Renal System

Abstract

Renal agenesis is the complete absence of one or both kidneys commonly accompanied by other malformations of the genitourinary tract and various lower body defects. PAX2, one of the earliest genes expressed widely during fetal kidney development in the nephric duct, the metanephric mesenchyme, the ureteric bud, and the S-shaped body, is important for the development of the kidney. In renal agenesis, the corresponding ureter and vesical trigone are usually absent. Usually it is sporadic, but it may occur as an autosomal-dominant trait with variable expression. Unilateral agenesis is more common and may be accompanied by ipsilateral anomalies of mesonephric or paramesonephric duct derivatives, including the absence of epididymis, vas deferens, and ejaculatory duct in males and the absence of uterine horn, fallopian tube, and ovary in females.

Appendices

Appendix 1: Kidney Weights, Left and Right, Male and Female, From 1 Day to 19 Years of Age

Age	Right kidney				Left kidney
	n	Mean + confidence limits p ≤ 0.95			n	Mean + confidence limits p > 0.95
Males
1 days	662	7.1	7.5	7.9	662	7.3	7.7	8.1
2–30 days	137	14.6	16.2	17.8	137	14.4	15.9	17.5
31–60 days	110	60.0	17.4	18.8	110	15.9	17.4	18.8
61–90 days	93	17.7	19.4	21.1	93	18.0	19.8	21.5
91–120 days	87	19.6	21.5	23.4	87	19.5	21.3	23.0
121–150 days	74	19.6	21.8	24.1	74	20.4	22.7	25.0
151–180 days	56	20.9	23.8	26.6	56	21.3	23.5	25.6
1 year	62	29.0	31.9	34.8	62	29.8	33.6	37.4
2 years	70	40.6	45.7	50.9	73	42.2	47.3	52.5
3 years	65	47.7	53.2	58.7	65	49.5	55.0	60.5
4 years	37	47.9	53.8	59.8	37	50.7	55.9	61.1
5 years	45	51.0	56.1	61.2	45	52.6	57.6	62.7
6 years	40	59.5	69.4	79.3	10	62.4	72.3	82.1
7 years	27	59.6	68.4	77.1	27	59.9	67.8	75.7
8 years	38	66.9	76.3	85.8	38	68.2	77.7	87.1
9 years	29	68.7	78.7	88.6	29	70.1	80.7	91.3
10 years	40	76.7	87.2	97.7	41	80.3	91.2	102.2
11 years	21	78.9	90.0	101.2	20	78.8	91.3	103.8
12 years	32	95.9	106.1	116.4	32	97.0	106.6	116.2
13 years	24	86.8	98.0	109.1	24	90.5	103.2	115.9
14 years	29	102.2	113.4	124.6	30	103.8	116.8	129.7
15 years	31	114.3	130.2	146.1	30	115.6	130.7	145.8
16 years	43	122.7	134.0	145.2	42	121.3	133.8	146.3
17 years	52	129.9	140.3	150.6	54	138.2	150.6	163.0
18 years	57	141.3	153.4	165.6	56	145.3	156.9	168.5
19 years	64	139.4	147.5	155.7	64	142.5	152.0	161.4
Females
1 days	561	6.4	6.8	7.2	560	6.4	6.8	7.2
2–30 days	91	13.1	14.7	16.2	91	13.2	14.7	16.1
31–60 days	78	14.5	16.7	18.9	78	14.7	17.1	19.4
61–90 days	72	16.0	17.7	19.4	72	16.1	17.8	19.4
91–120 days	49	16.8	19.5	22.1	48	17.3	19.9	22.6
121–150 days	50	19.5	22.8	26.0	51	19.8	23.0	26.2
151–180 days	16	20.6	23.2	25.8	46	21.3	23.9	26.5
1 year	62	23.1	25.6	28.0	63	24.2	26.7	29.3
2 years	36	34.2	37.4	40.5	37	36.1	39.5	42.9
3 years	50	43.3	47.5	51.6	50	44.6	48.4	52.2
4 years	34	46.3	51.1	55.9	34	47.2	52.8	58.4
5 years	30	48.6	54.7	60.7	30	49.8	54.7	59.6
6 years	46	54.9	62.3	69.8	46	56.6	64.2	71.8
7 years	27	60.5	72.6	84.6	28	62.4	74.3	86.3
8 years	29	63.1	76.3	89.6	29	63.4	81.2	99.0
9 years	19	66.6	73.8	81.1	20	70.9	81.2	91.5
10 years	15	65.4	89.3	113.2	15	64.4	88.6	112.9
11 years	15	77.9	93.3	108.7	15	77.1	93.2	109.2
12 years	12	67.9	91.5	115.0	12	68.8	93.0	117.3
13 years	27	90.4	101.5	112.7	27	96.9	108.2	119.6
14 years	16	97.0	105.2	113.4	17	104.0	113.8	123.7
15 years	33	100.7	113.2	125.6	33	108.3	118.4	128.6
16 years	18	105.0	122.3	139.7	18	111.0	127.6	144.1
17 years	47	119.4	129.2	139.0	46	123.2	134.8	146.5
18 years	37	116.6	123.9	131.3	37	121.3	129.3	137.7
19 years	42	119.4	129.0	138.6	42	119.5	130.6	141.6

1. From Kayser E. Height and weight in human beings: autopsy report. Munich: R. Oldenbourg; 1987

Appendix 2: Renal and Urinary Tract Abnormalities in Genetic Disorders and Malformation Syndromes

McKusick No.	Condition	Inheritance	Abnormalities of kidney and urinary tract
101400	Acrocephalosyndactyly type 3 (Saethre-Chotzen syndrome)	AD	Duplication of one kidney
100300	Adams-Oliver syndrome (scalp defects and ectrodactyly), aplasia cutis congenita, scalp defects, terminal transverse defect of digits or limbs, lethal	AD	Cystic kidneys
175100	Adenomatous intestinal polyposis; Gardner syndrome	AD	Horseshoe kidney
105200	Amyloidosis, familial visceral; amyloidosis of Ostertag	Probably AD	Glomerular amyloid and giant cells; renal failure in adult life
118450	Arteriohepatic dysplasia (Alagille), cholestasis secondary to intrahepatic ductular hypolasia, peripheral pulmonary stenosis, hypertelorism, straight nose, vertebral and ocular anomalies, lethal	AD	Glomerular lipidosis and sclerosis diffuse calcinosis, single kidney, small kidneys, renal artery stenosis
173900	AD polycystic kidney disease	AD	Renal cysts; renal failure in adult life
191800	Bilateral renal agenesis, unilateral renal agenesis, heriditary renal adysplasia	AD, XL	Unilateral agenesis, sometimes with contralateral hypoplasia or dysplasia; bilateral renal agenesis
113650	Branchiootorenal syndrome	AD	Sharply tapered superior poles and blunting of clices, renal hypoplasia
118300	Charcot-Marie-Tooth peroneal muscular atrophy syndrome	AD	Chronic, interstitial nephritis, focal segmental glomerular sclerosis
153650	Deafness-hyperprolinemia-ichthyosis syndrome	AD	Glomerular sclerosis renal failure
129900	Ectrodactyly-ectodermal dysplasia-cleft syndrome	AD with variable expressivity	Unilateral renal agenesis
163200	Epidermal nevus (ichthyosis hystrix; Jadassohn nevus sebaceus syndrome)	AD	Wilms tumor, renal hamartoma
102500, 259699	Essential osteolysis	? AD	Chronic glomerulopathy progressing to renal failure
152460	Familial lobular glomerulopathy	Probably AD	Proteinuria, progressive renal failure
137950	Fibrillary glomerulopathy	AD	Proteinuria, hematuria, hypertension
135600	Fibromuscular arterial dysplasia	AD	Renal artery stenosis, hypertension especially in females
305600	Focal dermal hypoplasia (Goltz) syndrome	AD vs XL with male lethality?	Renal, ureteral malformations
141200	Hematuria, benign familial (thin GBM disease)	AD	Hematuria, thin GBM
187300	Hereditary hemorrhagic telangiectasia (Osler)	AD	Vascular lesions of kidneys, bladder, urethra cause hematuria
143400	Hydronephrosis, familial	AD with variable expressivity	Unilateral or bilateral hydronephrosis with or without ureteropelvic obstruction, contralateral renal agencies; expression of hereditary renal adysplasia (HRA)
148860	Klippel-Feil deformity, deafness, absent vagina syndrome	AD	Renal ectopia, unilateral agenesis
149000	Klippel-Trenaunay-Weber angioosteohypertrophy syndrome	AD	Renal angiomas, renal artery aneurysm nephroblastomatosis
149500	Kyrle disease (of skin)	Possibly AD	Diabetic nephropathy
151100	LEOPARD syndrome (multiple lentigines, pulmonic stenosis, mild hypertelorism, deafness)	AD variable expressivity	Unilateral renal agenesis or hypoplasia, hypospadias
151660	Lipodystrophy, familial limb and trunk type	AD vs XL	Diabetic nephropathy
151680	Lipodystrophy-Rieger anomaly-short stature-diabetes syndrome (Aarskog lipodystrophy)	Probably AD	Diabetic nephropathy
174000	Medullary cystic disease	AD	Probably primary tubulointerstitial disease
156610	Michelin tire baby syndrome	AD	Ureterocele
160010	Myoglobinuria, dominant	AD	Myoglobinuric acute or chronic renal failure
160900	Myotonic dystrophy	AD	Urinary retention, dysuria; note association with malignant hyperthermia; renal tubular necrosis, myoglobinuric nephropathy
161200	Nail-patella (hereditary onychoosteodysplasia) syndrome	AD	Thickening of GMBs, mesangial hyper-cellularity, glomerular sclerosis with tubular atrophy, chronic nephritis; focal deposits of IgM and/or complement; collagen fibers within GBM
162200	Neurofibromatosis type I	AD	Renal vascular involvement can cause hypertension
236730	Ochoa syndrome (urofacial syndrome), peculiar facial expression, inverted smiling/crying	AD with variable expressivity and variable penetrance	Hydronephrosis and hydroureter, intravesical stenosis of ureter, abnormal caliber of urethra urethral valves
307100	Optiz-Frias (G) syndrome, hypertelorism, hypospadias, low-set or posteriorly rotated ears, anal anomalies abnormalities of esophageal motility, posterior laryngeal cleft	AD vs XL	Duplication of renal pelvis and ureters, bilateral internal reflux, hypospadias
166300	Osteolysis (carpal-tarsal) with chronic progressive glomerulopathy syndrome	AD	Nephrotic syndrome progressing to renal failure
169545	Pelvic lipomatosis, crossed renal ectopia	AD	Renal ectopia
175200	Peutz-Jeghers gastrointestinal polyposis	AD	Renal cysts
163700	Polythelia (accessory nipple[s] or mammary gland) syndrome	Occasionally AD?	Unilateral renal agenesis; urinary tract obstruction
179800, 267200	Renal tubular acidosis-nephrocalcinosis-urinary tract infection-renal failure syndrome	AD and AR	Nephrocalcinosis
180700	Robinow fetal face-acral dysostosis syndrome	AD	Vesicoureteral reflux, renal scarring
270050	Russell-Silver dwarfism-asymmetry syndrome	AD and XL	Renal abnormalities
176450	Sacrococcygeal dysgenesis syndrome	Possibly AD	Neurogenic bladder and sequelae
187480	Tournes-Brocks syndrome deafness, lop ears, imperforate anus, triphalangeal or hypoplastic thumbs, preauricular ear tags or pits, lethal	AD	Renal hypoplasia, ureterovesical reflux, posterior urethral valves
191100	Tuberous sclerosis	AD	Cystic kidneys, renal angiomyolipomas
191900	Uriticaria-deafness-amyloidosis (Muckle-Wells) syndrome	AD	Renal amyloidosis
193300	von Hippel-Lindau syndrome	AD	Cystic Kidneys, renal carcinoma
194050	Williams syndrome, hypercalcemia, supravalvular aortic stenosis, mental retardation	AD submicroscopic deletion subunit 7q11–23 (elastin deletion)	Renal artery stenosis and other renal abnormalities
Autosomal recessive (AR)
200170	Acanthosis nigricans-muscle cramps-enlarged hands syndrome	AR	Nephromegaly, mechanism?
102700	Adenosine deaminase deficiency, combined immunodeficiency	AR	Glomerular mesangial sclerosis
102600	Adenosine phosphoribosyl transferase deficiency	AR	Renal calculi
203800	Alström-Hallgren retinitis pigmentosa-deafness-obesity-diabetes mellitus syndrome	AR	Progressive nephropathy, tubulointerstitial nephritis
204690	Amelogenesis imperfecta-nephrocalcinosis (enamel-renal syndrome)	AR	Nephrocalcinosis
207410	Antley-Bixler syndrome, midface hypoplasia, humeroradial synostosis, bowing of the femurs, fractures, cardiac malformations, choanal stenosis, lethal	AR	Renal malformations
208000	Arterial calcification generalized, of infancy	AR	Renal artery occlusion
301820	Arthrogryposis-jaundice-nephrocalcinosis	AR	Tubular degeneration, nephrocalcinosis
249600	Barakat mesangial sclerosis-ocular abnormalities	AR	Diffuse glomerular mesangial sclerosis
209900	Bardet-Biedl postaxial polydactyly-genital hypoplasia-retinopathy-obesity-mental retardation syndrome	AR	Progressive tubulointestional nephropathy
218650	Baraitser-Rodeck-Garner, craniosynostosis (coronal), hypertelorism, choroidal coloboma, mild mesomelic shortening of limbs, developmental delay, seizures	AR	Segmental renal dysplasia, cystic dysplasia
209930	Bartter syndrome with hypercalciuria and nephrocalcinosis	AR	Medullary nephrocalcinosis
241200	Bartter hypokalemic alkalosis-hyperaldosteronism syndrome	Probably AR	Juxtaglomerular hypertrophy
263200	Caroli (renal hapatic-pancreatic) dysgenesis, pancreatic dysplasia	AR	Usually ARPKD, less often cystic renal dysplasia
214150	Cerebrooculofacioskeletal syndrome (COFS Pena-Shokeir syndrome type 2), microcephaly, cataracts, joint contractures, reduced white matter; cerebral calcification, agenesis of corpus callosum, failure to thrive, lethal	AR	Renal anomalies
236450	Cerebronephroosteodysplasia, Hutterite type	Probably AR	Nephrotic syndrome
210550	Cholestatic jaudice–renal insufficiency	AR	Proximal renal tubular dysfunction
302950	Chondrodysplasia punctata, rhizomelic type	AR	Microcystic kidneys
225500	Chondroectodermal dysplasia	AR	Urinary tract anomalies
216440	Cockayne syndrome	AR	Glomerular sclerosis, tubular atrophy, interstitial fibrosis, immune deposits, nephrotic syndrome
218650	Craniosynostosis-mental retardation-cleft lip pa late-choroidal coloboma syndrome	AR	Dysplastic kidneys
218900	Crome syndrome	AR	Renal tubular necrosis
219000	Cryptophthalmos, cryptophthalmia, cleft lip/palate, genital anomalies, atresia of ear canal, anal atresia, syndactyly	AR	Renal dysplasia or agenesis, ureteric anomalies
219150	Cutis laxa, severe lethal form; neonatal cutis laxa; diaphragmatic or other hernias; emphysema	AR	Urinary tract diverticula
	Daentl Syndrome	AR or XL	Duplication of left renal artery, disparity in size of kidneys, persistent fetal lobulations, glomerular lipidosis, progressive focal glomerulosclerosis, nephrotic syndrome
194080	Denys-Drash syndrome (ambiguous genitalia-nephritis-Wilms tumor)	AR	Diffuse mesangial sclerosis, renal failure, Wilms tumor
305200	Ehlers-Danlos syndrome	AR, XL	Multiple renal and hepatic cysts, renovascular abnormalities, aneurysms of medium-sized and small arteries
	Elejalde syndrome (acrocephalopolydactylous dysplasia)	AR	Cystic renal dysplasia
226730	Epidermolysis bullosa with pyloric atresia and ureterovesical stenosis	AR	Hydronephrosis
248340	Facial clefting syndrome-gypsy type (Malpuech syndrome)	Possibly AR	Renal hypoplasia, ectopia; vesicoureteral reflux; bladder diverticula
227280	Faciocardiorenal (Eastman-Bixler) syndrome	AR	Horseshoe kidneys
227290	Faciooculoacousticorenal syndrome	Possibly AR	Proteinuria, vesicoureteral reflux
227650, 227660	Fanconi pancytopenia, with several complementation groups	AR	Renal agenesis, renal ectopia, collecting system duplication, horseshoe kidney
219000	Fraser cryptophthalmos-syndactyly-vaginal atresia syndrome	AR	Unilateral or bilateral renal dysplasia, hypoplasia, agenesis
229850	Fryns syndrome, cloudy corneas, hirsutism, absent or hypoplastic fingernails, hypoplastic distal phalanges, eventration and absence of diaphragm, bicornuate uterus, holoprosencephaly, lethal	AR	Cystic kidneys
277175	Gastrointestinal-renovascular hyalinosis	AR	Glomerular mesangial basement membrane-like deposits
231060	Genitopalatocardiac syndrome, male pseudohermaphroditism, micrognathia, cleft palate, conotruncal cardiac defect, other anomalies	AR	Renal dysplasia, dysgenesis of bladder
	Gil-Gibernau syndrome (hypercalciuria with myopia and macular coloboma)	AR	Renal tubular malformation, hypercalciuria
	Goldston syndrome (Dandy-Walker malformation)	AR	Cystic dysplasia with biliary dysgenesis
230740	Growth retardation-alopecia-pseudoanodontia syndrome	AR	Nephrocalcinosis
235400	Hemolytic-uremic syndrome	AR, AD	Microthrombotic ischemia, glomerular and tubular necrosis
203300	Hermansky-Pudlak, albinism, hemorrhagic diathesis, pigmented reticuloendothelial cell syndrome	AR	Renal failure
235740	Hirschsprung disease-polydactyly-deafness syndrome	AR	Unilateral renal agenesis
253200	Hunter-Jurenka (oculorenocerebral) syndrome	AR	Glomerular sclerosis, juxtaglomerular prominence, basement membrane thickening with granular deposits
211180	Hutterite microcephaly-abnormal facies-micrognathia syndrome, Bowen-Conradi type	AR	Horseshoe kidney, duplicated renal collecting system
236500	Hydranencephaly, renal adysplasia	AR	Renal hypo/dysplasia
236680	Hydrolethalus, hydrocephalus; very small mandible; polydactyly; congenital heart defect; abnormalities of trachea, bronchi, and lungs; cleft lip and palate, lethal	AR	Unilateral renal agenesis, hypoplasia kidneys, tubular cysts
239800	Hypertelorism-microtia-facial clefting syndrome	AR	Renal ectopia
261100	Imerslund-Grasbeck syndrome, pernicious anemia due to intestinal malabsorption of vitamin B12	AR	Proteinuria
243800	Johanson-Blizzard syndrome, hypoplasia of nose, midline cutaneous scalp lesions, imperforate anus, deafness, hypothyroidism, malabsorption; microcephaly, lethal	AR	Caliectasia, hydronephrosis, single urogenital orifice
213300	Joubert hypotonia-tachypnea-mental retardation-deficient cerebellar vermis syndrome	AR	Renal cysts
208060	Juvenile arteriosclerosis, severe, calcific	AR	Dilated Bowman spaces with shrunken glomeruli
	Juvenile nephronophthisis (Fanconi)	AR	Chronic tubulointerstitial nephritis
236700	Kaufman-McKusick syndrome, hydrometrocolpos, vaginal atresia, polydactyly (postaxial), imperforate anus, congenital heart disease, malrotation of gut, congenital intestinal adhesions, lethal	AR	Urethral stenosis, cystic renal disease
245210	Kousseff sacral meningocele-conotruncal head/neck anomaly syndrome	AR	Unilateral renal agenesis
265000	Lethal multiple pterygium syndrome, type Chen; multiple pterygia involving chin to sternum, axilla, elbows, hips, and knees; contractures of multiple joints; small chest; hydrops, cystic hygroma; cardiac, pulmonary hypoplasia; hypertelorism; low-set, malformed ears; flat nasal bridge; lethal	AR	Megaureter, hydronephrosis
147670	Lipodystrophy-coarse facies-acanthosis nigricans syndrome, Miescher type	AR	Diabetic nephropathy
247200	Lissencephaly type II (Walker-Warburg syndrome)	Chromosome 17 (short arm deletion) and ? AR	Unilateral agenesis, renal cystic dysplasia kidneys
309000	Lowe oculocerebrorenal syndrome	AR	Renal failure
248700, 255800	Marden-Walker myopathy-mental defect contracture syndrome (Schwartz-Jampel syndrome)	AR	Microcystic kidneys
249000	Meckel-Gruber syndrome, posterior encephalocele, polydactyly, microcephaly, microphthalmos, cleft palate, ambiguous, lethal	AR	Cystic dysplastic kidneys and liver
249100	Mediterranean fever, paroxysmal polyserositis, recurrent fever	AR	Renal amyloidosis
251300	Microcephaly-hiatus hernia-nephrosis syndrome, Galloway type Miranda syndrome (cerebral dysgenesis)	AR	Proteinuria, nephrotic syndrome, renal failure, abnormalities of GBM
226980	Multiple epiphyseal dysplasia-diabetes mellitus	AR	Cystic dysplasia with biliary dysgenesis
249630	Mutchinick mental retardation-microcephaly-cardiac anomaly syndrome	AR	Diabetic nephropathy
254900	Myoclonus-nephropathy syndrome	AR	Hydronephrosis, hydroureter
255120	Myopathy, carnitine palmitoyltransferase deficiency	AR	Proteinuria, progressive renal failure
264090	Neonatal progeroid (Wiedemann-Rautenstrauch) syndrome	AR or XL	Myoglobinuric renal damage
256350	Nephrotic syndrome, familial (French type)	AR	Urinary tract reflux
		AR	Nephrotic syndrome with onset often after birth: diffuse mesangial sclerosis; early onset of hypertension and renal insufficiency
256300	Nephrotic syndrome, congenital (Finnish type)	AR	Severe nephrotic syndrome; eventual glomerular sclerosis and renal failure early in first decade
256520	Neu-Laxova syndrome, microcephaly, short neck, flexion deformities, peripheral edema, hypoplastic genitalia, absent eyelids, sloping of forehead, hypertelorism, small jaw, flat nose, cataracts, overlapping fingers, syndactyly, agenesis of corpus callosum, lissencephaly, lethal	AR	Renal agenesis
256690	Neurofaciodigitorenal syndrome	AR vs XL	Unilateral renal agenesis
256670	Oculorenocerebellar syndrome with mental retardation; choreoathetosis, tapetoretinal degeneration, spastic diplegia, proteinuria	AR	Focal segmental glomerulosclerosis, renal failure
211750	Opitz C (trigonocephaly) syndrome	Probably AR	Renal agenesis
277170	Oropalatodigital syndrome, Varadi type	AR	Unilateral renal agenesis
	Ozer syndrome	? AR	Proteinuria and aminoaciduria
242530	Passwe syndrome ichythyosis, dwarfism, mental retardation, and renal disease)	AR	Disparate size of kidneys, tubular fibrosis, glomerular thickening and atrophy, hypertension
267000	Perlman macrosomia-nephroblastomatosis-metanephric hamartoma-Wilms tumor syndrome	AR	Bilateral renal hamartomas and nephroblastomatosis, renal dysplasia, Wilms tumor, medullary dysplasia, hydronephrosis
163200	Polycystic kidney disease, infantile type	AR	Tubular renal cysts; nephromegaly; renal failure common in infancy; hypertension
263100	Polycystic kidney disease-cataract-blindness syndrome	Possibly AR	Urinary tract infection, renal calculi, cystic renal dysplasia
179280	Radial-renal syndrome	AR and AD forms	Crossed renal ectopia, unilateral renal agenesis
266910	Renal dysplasia-limb defects syndrome	AR	Severe renal dysplasia with oligohydramnios
266900	Renal dysplasia-retinal aplasia, Lφken-Senior type	AR	Tubulointestinal nephritis (nephronophthsis) with progression to renal insufficiency
	Renal tubular dysgenesis, hypocalvaria, oligohydramnios	AR	Defective proximal tubular development (similar to ACE inhibitor syndrome)
268300	Roberts (pseudothalidomide) syndrome, severe tetraphocomelia owing to hypoplasia of fibulae and tibiae, absence of radii, short ulnae, cleft lip and palate, joint contractures, ambiguous or apparently enlarged genitalia, cogenital heart disease; chromosomes show characteristic “puffing” around centromere, particularly chromosomes 1, 9, and 16; lethal	AR	Horseshoe kidney, ureteral stenosis with hydronephrosis, occasional renal cysts
	Sickle cell anemia	AR	Glomerular hypertrophy and sclerosis, membranoproliferative glomerulonephritis, papillary necrosis
	Sinclair-Smith (familial hydrocephalus and nephrotic) syndrome	AR	Cystic kidneys (cortex and medulla), excessively immature glomeruli with congenital nephrotic syndrome
274000	Thrombocytopenia-absent radius, bilateral radial aplasia, radial clubhands (with thumbs present), purpura, thrombocytopenia, cogenital heart defects, lower limb defects, lethal	AR	Unilateral renal agenesis, hypospadias, transposition of penis and scrotum
236670	Walker-Warburg (Hard ± E syndrome, lissencephaly II) anterior chamber defects of eye, retinal dysplasia, hydrocephalus, lack of gyral patterns, occipital encephalocleles, lethal	AR	Unilateral agenesis, cystic kidneys
277700	Werner progeroid syndrome	AR	Diabetic nephropathy
267400	Winter syndrome (renal, genital, and middle-ear anomalies)	AR	Unilateral agenesis or hypoplasia, bilateral agenesis
X-Linked (XL)
104200, 203780, 301050	Alport nephritis-sensorineural deafness syndrome	XL; similar AR and AD entities	Progressive glomerulopathy with distinctive GBM abnormalities, interstitial lipid histiocytes (Fechtner type, with cataract and May-Hegglin anomaly, is AD)
314300	Cervicodermagenitourinary syndrome	XL?	Cystic renal dysplasia in males; pyelonephritis in both sexes; hypertension; renal failure
304150	Cutis laxa, X-linked (Elhers-Danlos syndrome type 9)	XL	Obstructive uropathy, bladder diverticula
305000	Dyskeratosis congenita (Zinsser-Cole-Engman syndrome)	XL	Urethral stenosis, horseshoe kidney
305450	FG syndrome (Opitz-Kaveggia) macrocephaly, prominent waxy forehead, frontal upsweep of hair (cowlick), hypotonia, agenesis of corpus callosum, mental retardation, anal anomalies, lethal	XL	Dilation of urinary tract
314300	Goeminne syndrome (congenital muscular torticollis, multiple keloids, cryptorchidism, renal dysplasia)	XL	Renal dysplasia, chronic pyelonephritis with hypertension
307800	Hereditary hypophosphatemic rickets with hypercalciuria (same as hypercalciuria, familial?)	XL	Nephrocalcinosis, renal tubular dysfunction
244200	Kallmann syndrome (cogenital anosmia, hypogonadism, unilateral renal agenesis)	XL	Unilateral renal agenesis
309800	Lenz microphthalmia, prominent ears, sloping shoulders, urogenital anomalies, lethal	XL	Urogenital anomalies
308000	Lesch-Nyhan hypoxanthine-guanine phosphoribosyl transferase deficiency	XL	Nephrocalcinosis, uric add crystals
249420 309350	Melnick-Needles syndrome, unusual facial appearance, micrognathia, “wavy” long bones, constrictions of ribs, tall vertebrae, sclerosis of skull, severe exomphalos or proptosis, micrognathia, low-set ears, absent or opaque corneas, partial syndactyly, lethal	XL	Unilateral stenosis, hydronephrosis
242700	Nezelof syndrome (arthrogryposis multiplex congenita, renal dysfunction, cholestatic liver disease)	XL	Renal tubular cell degeneration, nephrocalcinosis
311200	Orofaciodigital syndrome 1	XL with male lethality	Glomerulocystic kidneys in female heterozygotes
312870	Simpson-Golabi-Behmel overgrowth syndrome; cardiac, skeletal anomalies, umbilical and inguinal hernias; supernumerary digits; variable intelligence	XL	Cryptorchidism, penoscrotal hypospadias, penoscrotal transposition
306100	Swyer syndrome (46,X gonadal dysgenesis) with renal disease	XL	Glomerulosclerosis with tubular atrophy and interstitial fibrosis
314000	Thrombocytopenia-elevated IgA-renal disease	XL	Glomerulonephritis
Sporadic
173800	Acrorenal anomalies including Poland anomaly	Sporadic	Unilateral renal agenesis and other renal malformations
217900	Brachmann-de Lange syndrome, low birthweight, microcephaly, characteristic face, synophrys, nostrils anteverted, philtrum long, corners of mouth down-turned, hirsutism, chromosomal defect (3q del; ring 9)	Sporadic	Hypoplastic and dysplastic kidneys
	Caudal dysplasia, sacral agenesis/hypoplasia, lower limb and skeletal anomalies, anal atresia, bladder anomalies	Sporadic	Renal dysplasia and agenesis; anomalies of uterus, urethra, and bladder
	Cerebrorenodigital, digital, and limb anomalies; brain malformations, other anomalies	Sporadic	Renal dysplasia ectopy, agenesis, ureteral anomalies
	Cystic hamartoma of lung and kidney, hamartomatous pulmonary cysts	Sporadic	Medullary dysplasia, cellular mesoblastic nephroma
	Exstrophy of bladder (exstrophy-epispadias complex), Robinson defect	Sporadic	Exposure of posterior wall of bladder, megacystis, hydroureters, hydronephrosis and cystic renal dysgenesis, bilateral renal agenesis
	Exstrophy of cloaca	Sporadic	Duplication or atresia of ureter, anomalous drainage of ureters into vagina or vasa-deferentia, unilateral agenesis of kidney, cystic hydronephrosis, pelvic kidney, hydroureter
257700	Goldenhar complex (facioauriculovertebral syndrome, hemifacial microstomia)	Sporadic	Pelvic deformity, anomalous renal artery; unilateral cystic kidney
	Huber syndrome (carotid anastomosis and aplasia of internal carotid artery)	Sporadic	Bilateral cysts in cortex and medulla
103300	Hypoglossia-hypodactyly (Hanhart syndrome), severe limb abnormalities, hypoplastic or absent tongue, micrognathia, facial palsy, lethal	Sporadic	Renal anomalies
242150	Ichthyosiform erythrokeratoderma with deafness syndrome	Sporadic	Urinary tract infection
149900	Klippel-Trenaunay-Weber dysplasia	Sporadic	Diffuse bilateral nephroblastomatosis
215800	Laryngeal cleft	Sporadic	Unilateral renal agenesis, multicystic kidney, malfunctioning left kidney, persistent fetal lobulation, renal hypoplasia, pelvic ectopic kidney, urethrorectal fistula, exstrophy of bladder
	Melnick-Fraser (renal anomaly syndrome)	Sporadic	Renal agenesis, hypospadias, oligomeganephronia, cystic dysplasia
146510	Pallister-Hall syndrome, hypothalamia, hamartoblastoma, postaxial polydactyly, imperforate anus, laryngeal clefts, abnormal lung lobulation, multiple oral frenulae, hypoadrenalism, hypopituitarism, microphallus, congenital heart defect, intrauterine growth retardation, lethal	Sporadic	Renal dysplasia
Environmental (Teratogens)
	Alcohol (fetal alcohol syndrome)	In utero exposure	Small rotated kidneys, hydronephrosis, horseshoe kidney, renal dysplasia, microcystic dysplasia
	Alkylating agents (busulfan, chlorambucil, cyclophosphamide, mechlorethamine): growth retardation; cleft palate; microphthalmia; digit anomalies; cardiac defects; anoamalies of larynx, trachea, and esophagus	In utero exposure	Hydronephrosis, hydroureter
	Angiotensin-converting enzyme (ACE) inhibitor syndrome	In utero exposure	Renal tubular dysgenesis, postnatal renal failure, hypocalvaria
	Antithyroid drug syndrome	In utero exposure	Patent urachus
	Cocaine syndrome	In utero exposure	Prune-belly syndrome, renal and ureteral agenesis, hydronephrosis, hypospadias, ambiguous genitalia
	Cyclooxygenase inhibitors (NSAIDs)	In utero exposure	Oligohydramnios
	Herpes simplex syndrome	In utero exposure	Renal hypoplasia
	Indomethacin	In utero exposure	Oligohydramnios, tubular lesion in fetus/newborn
	Maternal diabetes: heart defects, facial clefts, limb defects, sacral agenesis, neural tube defects, focal femoral hypoplasia, lethal	In utero exposure	Renal agenesis, renal dysplasia, hydronephrosis, ureteral duplication, cystic renal dysplasia, caudal regression syndrome
	Maternal phenylketonuria: microcephaly, mental retardation, congenital heart defects, occasionally vertebral anomalies, cleft lip/palate, esophageal atresia, lethal	In utero exposure to untreated mother with phenylketonuria	Renal anomalies
	Retinoic acid (vitamin A): malformed or absent ears, cleft palate, congenital heart defect, CNS malformations (e.g., hydrocephaly decreased cerebral tissue, posterior fossa cysts), lethal	In utero exposure	Hypoplastic kidneys, hydronephrosis
	Rubella: cataracts, microphthalmia, pigmentary retinopathy, prenatal and postnatal growth retardation, heart defects, skeletal anomalies, sensorineural deafness, neurologic impairment, microcephaly	In utero exposure	Stenosis of renal artery, cystic kidneys, duplication of ureters, unlateral renal agenesis
273600	Thalidomide embryopathy	In utero exposure	Renal agenesis, hypoplasia, hydronephrosis, horseshoe kidney, cystic kidneys, renal ectopia, anomalies of rotation
132870	Hydration (fetal phenytoin [Dilantin] syndrome): growth retardation, hypoplastic bridge to nose, hirsutism, hypoplastic, fingernails, cleft lip and palate, heart defects, lethal	In utero exposure	Urinary tract malformations
	Trimethadione: growth deficiency, synophrys, midface hypoplasia, cleft lip and palate, ear abnormalities, ambiguous genitalia, heart defects, lethal	In utero exposure	Absent kidney and ureter, fetal lobulation of kidneys, hypospadias
	Valproate: neural tube defects, metopic ridge, well-formed philtrum, mild hirsutism, heart defects, hypospadias, pre- and postaxial polydactyly, characteristic facies, lethal	In utero exposure	Hypospadias
	Varicella zoster infection	In utero exposure	Renal agenesis, hydronephrosis
	Warfarin embryopathy: depressed nasal bridge, nasal hypoplasia, groove between alae nasi, low birthweight, CNS abnormalities, stippling of epiphyses, lethal	In utero exposure	Unilateral renal agenesis, abnormal urinary tract
Metabolic disorders
202900	Alaninuria-microcephaly-dwarfism-enamel hypoplasia-diabetes mellitus (Stimmler) syndrome	AR	Diabetic glomerulopathy
241200	Bartter hypokalemic alkalosis-hyperaldosteronism syndrome	Probably AR	Juxtaglomerular apparatus hyperplasia
209930	Bartter syndrome with hypercalciuria and nephrocalcinosis	AR	Medullary nephrocalcinosis
255120	Carnitine palmitoyl transferase deficiency myopathy	AR	Fatty change of renal tubules; myoglobinuric renal damage possible
219800	Cystinosis and Fanconi syndrome aminoaciduria, glucosuria, hypophosphatemic rickets	AR	Progressive renal tubular atrophy and interstitial fibrosis
220110	Cytochrome C oxidase deficiency, mitochondrial defect	AR	Hydroureter, nephrocalcinosis
222300	Diabetes insipidus/mellitus-optic atrophy-deafness syndrome	AR	Bladder neck sclerosis, megacystis, hydroureter, hydronephrosis, renal failure
125700	Diabetes insipidus, neurohypophyseal type	AD vs XL	Urinary tract dilation
125800	Diabetes insipidus, vasopressin resistant	XL more often than AD	Urinary tract dilation
301500	Fabry (lysosomal a-galactosidase A deficiency) disease	XL	Glycosphingolipid deposition in glomerular podocytes, distal tubular epithelium, vascular media; glomerular sclerosis; renal failure
231670	Glutaric acidemia type II	AR	Bilateral cystic kidneys, cystic dysplasia
232200	Glycogenosis IA (von Gierke)	AR	Nephromegaly, focal segmental glomerular sclerosis, renal failure, gout, renal calculi
232200	Glycogen storage disease IB (neutropenic form of von Gierke disease)	AR	Glomerulonephritis
232600	Glycogenosis 5 (McArdle)	AR	Myoglobinuric renal failure
230500	GM1 (generalized gangliosidosis type 1), deficiency of β-galactosidase, hydrops, periosteal cloaking of long bones on x-ray films, Hurler-like dysmorphism	AR	Storage material in glomerular epithelial and tubular cells
277900	Hepatolenticular degeneration (Wilson disease)	AR	Renal calculi
236200	Homocystinuria	AR	Nephrotic syndrome
143870	Hypercalciuria, familial	AD	Renal calculi
167030	Hyperoxaluria	AD	Renal calculi
145000, 239200	Hyperparathyroidism, familial	Uncertain	Nephrocalcinosis
239400	Hyperpipecolic acidemia	AR	Renal tubular ectasia
241150	Hyperkalemic alkalosis-renal tubulopathy (Gullner) syndrome	AR	Normal juxtaglomerular apparatus (vs Bartter syndrome); proximal tubular cytologic changes
307800	Hypophosphatemia, XL (vitamin d-resistant rickets type I)	XL	Nephrocalcinosis
252500	I-cell (mucolipidosis type 2), deficiency of N-acetyl glucosamine phosphotransferase, skin thickened, alveolar ridge hyperplasia, marked periosteal cloaking alveolar ridge hyperplasia, marked periosteal cloaking	AR	Storage material in glomerular epithelial and tubular cells; no renal functional impairment
242600	Iminoglycinuria type 2	AD	Oxalate renal lithiasis
245900	Lecithin-cholesterol acyl transferase deficiency	AR	Proteinuria, glomerular lipid deposits and foam cells, glomerular sclerosis, renal failure
308000	Lesch-Nyhan syndrome (hypoxanthine guanine phosphoribose transferase deficiency)	XL	Gout, urinary calculi, nephropathy
	Lipoprotein glomerulopathy with elevated serum p-lipoprotein and pre-β-lipoprotein	AR	Glomerular capillary lipoprotein “thrombi,” nephrotic syndrome
309400	Menkes syndrome, severe retardation, seizures, failure Menkes syndrome, severe retardation, seizures, failure and kinky, low serum copper, lethal	XR	Tortuous blood vessels, including renal vessels
252150	Molybdenum cofactor deficiency type A	AR	Xanthine calculi
202370	Neonatally lethal adrenoleukodystrophy	AR	Renal microcysts
	Nephrosialidosis due to deficiency of glycoprotein-specific α-neuraminidase with Hurler-like phenotype	AR	Storage of sialyl-oligosaccharides and glycoproteins in podocytes, tubular epithelium, interstitial cells; nephrotic syndrome and renal insufficiency
311850	Phosphoribosyl pyrophosphate synthetase abnormality syndrome of spinocerebellar ataxia-sensorineural hearing loss	XL	Hyperuricemia, nephrolithiasis, urate nephropathy
266500	Phytanic acid storage (adult Refsum) disease neuropathy, retinitis pigmentosa, peripheral cerebellar ataxia, retinitis pigmentosa, peripheral cerebellar ataxia	AR	Fatty change of kidney tubules, lamellate microtubular epithelial inclusions in distal convoluted tubules
176000	Porphyria, acute intermittent	AD	Urinary retention, hypertension
263700	Porphyria erythropoietica	AR	Renal siderosis from hemolysis
176860	Protein C deficiency	AD more often than AR	Renal vein thrombosis
179800	Renal tubular acidosis	AD and AR	Nephrocalcinosis, urinary tract infection, renal failure, renal calculi
269920	Sialic acid storage disease, severe infantile type (Salla disease), sparse hair, coarse facial features, Hepatosplenomegaly, ascites, diarrhea, vacuolated lymphocytes, ultrastructural and biochemical features, lethal	AR	Free sialic acid in urine; enlarged, foamy podocytes; nephrotic syndrome
256550	Sialidosis type 2 (see nephrosialidosis)	AR	Oligosaccharide and glycoprotein storage
270400	Smith-Lemli-Opitz syndrome, microcephaly, narrow bifrontal diameter, ptosis, epicanthic folds, broad nasal tip, anteverted nostrils, long philtrum, posteriorly rotated ears, small jaw, skin syndactyly between toes 2 and 3, heart defects, polydactyly, failure to thrive, deficiency of 7-dehydrocholesterol reductase, lethal	AR	Cystic renal dysplasia
201910	Steroid 21-hydroxylase deficiency (adrenal hyperplasia type 3)	AR	Renal anomalies
	Wochner syndrome (thyrotoxicosis and renal disease)	Sporadic	Subacute proliferative glomerulonephritis with immunoglobulin deposits
278000	Wolman (acid lipase deficiency), vomiting, diarrhea, hepatosplenomegaly, bilateral adrenal calcification, enzyme deficient of acid lipase, lethal	AR
278300	Xanthine oxidase deficiency	AR	Renal calculi
214100	Zellweger (cerebrohepatorenal) syndrome, peroxisomal deficiency, hypotonia, tall and narrow forehead, Brushfield spots, cataracts (occasionally), contractures of limbs, nystagmus, seizures, punctate calcification around epiphyses, abnormalities of gyral pattern of brain, peroxisomes absent from liver, lethal	AR	Focal cortical glomerular and tubular cysts, cystic dysplasia, altered metanephric duct remnants, persistent fetal lobulations, horseshoe kidney, urethral duplication
Skeletal dysplasia
200600	Achondrogenesis (type Parenti-Fraccaro), hydrops, short trunk limbs, depressed nasal bridge, very poor ossification of vertebral bodies, very short tubular bones with metaphyseal cupping, cranium poorly ossified, always lethal	AR	Hydronephrosis
208500	Asphyxiating thoracic dystrophy, narrow chest, short limbs, occasional postaxial polydactyly, short horizontal ribs, spur on medial and lateral aspects of acetabulum giving “trident” appearance, lethal	AR	Tubulointerstitial nephropathy with tubular dysfunction and progressive renal insufficiency in children surviving infancy; occasional dysplasia and diffuse cystic disease in newborns; frequent biliary dysgenesis
218600	Baller-Gerold syndrome, craniostenosis, dysplastic ears, radial aplasia, hypoplastic or absent thumbs, vertebral anomalies, lethal	AR	Renal cystic dysplasia
113470	Brachymesomelia-renal syndrome Langer	New mutation AD?	Nephromegaly, glomerular cysts
211990	Campomelic dysplasia, flat face, micrognathia, short palpebral fissures, bowing of limbs, skin dimpling, sex reversal, talipes equinovarus, small scapulae, short clavicles, bent tubular bones (especially femora and tibia), lethal	AR	Renal cystic dysplasia
	Campomelia-short gut polycystic dysplasia, severe shortening and bowing of long bones, vertebral anomalies, cystic dysplasia of liver and pancreas, short gut, pulmonary hypoplasia, polysplenia, other anomalies	AR	Renal dysplasia
302950	Chrondrodysplasia punctata (severe rhizomelic form), rhizomelia, flattened face, cataracts, ichthyosis and skin dimpling, joint contractures, symmetric rhizomelic shortening of limbs, stippling of epiphyses, peroxisomal defect, lethal	AR	Renal cystic dysplasia
256050	de la Chapelle neonatal osseous dysplasia, prenatal short stature, narrow chest, short ribs, hemivertebrae, hypoplastic or bowed bones, lethal	AR	Renal cystic dysplasia
222600	Diastrophic dysplasia, short-limbed dwarfism, severe talipes equinovarus, abducted “hitchhiker” thumbs, shortening and metaphyseal widening of long bones, cleft palate, micrognathia, cystic enlargement of external ear, lethal	AR	Renal cystic dysplasia
224400	Dyssegmental dysplasia, short bowed limbs, coronal clefts of vertebrae, great variability in size of vertebral bodies, advanced carpal maturation, rib defects, lethal	AR	Renal cystic dysplasia
200995	Elejalde syndrome, large birthweight, overgrowth of subcutaneous tissue to give pseudohydrops appearance, lethal	AR	Cystic dysplasia with increased collagen tissue
225500	Ellis-van Creveld syndrome, polydactyly, heart defects (especially ASD), narrow chest, distal shortening of limbs, small nails, multiple oral frenulae, lethal	AR	Renal cystic dysplasia
228520	Fibrochondrogenesis, flat face, prominent eyes, cleft palate, narrow chest, short limbs, enlarged joints, characteristic histology, short dumbbell-shaped, tubular bones, short ribs, platyspondyly, small ilia, lethal	AR	Renal cystic dysplasia
146000	Hypochondroplasia, short limbs and trunk, characteristic histology, flared metaphyses, delayed ossification, flat vertebrae, lethal	AR	Renal cystic dysplasia
277300	Jarcho-Levin syndrome; spondylocostal dysplasia; urogenital anomalies; contractures of limbs; anal atresia; extremely crowded ribs, with very short, broad thorax; lethal	AR	Renal cystic dysplasia
245190	Kniest dysplasia (severe neonatal lethal form); short trunk, neck, and limbs; dumbbell-shaped long bones; coronal clefts of vertebrae, lethal	AD and AR	Renal cystic dysplasia
249700	Langer syndrome (brachymesomelia-renal syndrome)	Sporadic	Glomerulocystic kidneys
245600	Larsen syndrome: severe, multiple joint dislocations of elbows, hips, and knees, flat nasal bridge; prominent forehead; broad thumbs; talipes equinovarus; long spatulated fingers, lethal	AR	Renal cystic dysplasia
308050	Limb reduction-ichthyosis (CHILD) syndrome	Possibly XL	Urinary tract malformations
250600	Metatropic dysplasia, severe short stature, progressive kyphoscoliosis, prominent joints, narrow chest, short ribs, tail-like projection of sacral region, lethal	Both AD and AR forms	Renal cystic dysplasia
	Moerman-Vandenberghe-Fryns, short-limbed dysplasia, spondylocostal dysostosis, cleft palate, heart defect, duplication of uterus and vagina, Dandy-Walker cyst, hydrocephalus, absent corpus callosum, lethal (similar to achondrogenesis)	? AR	Renal dysplasia (hypo/dysplastic), hydroureters
120150	Osteogenesis imperfecta congenita type II, soft calvarium, blue sclerae, pinched nose, short bent limbs, multiple fractures of long bones, wormian bones in skull, thin ribs with multiple fractures (beaded), lethal	AD, most new mutations, occasional germline mosaicism	Renal cystic dysplasia
269150	Schinzel-Giedion midfacial retraction-hypertrichosis skeletal anomaly syndrome	AR	Hydronephrosis
181450	Schinzel ulnar ray anomaly syndrome (? same as Pallister ulnar-mammary syndrome)	AD?	Unilateral renal agenesis
269250	Schneckenbecken dysplasia, macrocephaly, short limbs, edema, narrow thorax, dumbbell-shaped long bones, wide fibula, platyspondyly, wide vertebral bodies, characteristic “snail-shaped” pelvis, lethal	AR	Renal cystic dysplasia
263530	Short-rib- polydactyly syndrome type 1	AR	Renal cystic dysplasia, renal agenesis
263520	Short-rib- polydactyly syndrome type 2 (Mohn-Majewski)	AR	Renal cystic dysplasia
263610	Short-rib- polydactyly syndrome type 3 (Verma-Naumoff)	AR	Renal dysplasia
183802	Split hand (syndactyly-spina bifida-obstructive uropathy)	AD	Ureteral atresia, megaloureter, hydronephrosis
271520	Spondylocostal dysostosis-visceral defects-Dandy-Walker cyst syndrome	Possibly AR	Renal hypoplasia, renal dysplasia, ureterovesical stenosis
271650	Spondyloepimetaphyseal dysplasia	AR (Irapa) and AD (Minnesota) types	Hydronephrosis
183900	Spondyloepiphyseal dysplasia congenita (severe lethal forms), short limbs and trunk, short neck, barrel chest, flat face, cleft palate, delayed bone age, poor ossification of pubis, coronal clefts in vertebrae with platyspondyly, lethal	Most are AD	Renal cystic dysplasia
108720	Atelosteogenesis (spondylohumerofemoral hypoplasia); rhizomelic limb shortening; bowing, dislocation of elbows/knees; talipes equinovarus; depressed nasal bridge; cleft palate; hypoplastic thoracic vertebral bodies and ribs; short humeri and femora; absence of ossification of some phalanges and metacarpals; lethal	Sporadic	Renal cystic dysplasia
187600	Thanatophoric dysplasia (and variants), very short limbs and digits, large head, depressed nasal bridge, narrow thorax, occasionally cloverleaf skull, very flat vertebral bodies, shortening and bowing of long bones, short ribs, lethal	Sporadic	Hydronephrosis, renal cystic dysplasia
	Ulbright syndrome (renal dysplasia, mesomelia, radio-humeral fusion)	AR	Renal hypoplasia, dysplasia
Immunodeficiency
300300	Agammaglobulinemia, infantile (Bruton)	XL	Amyloidosis, glomerulonephritis (autoimmune)
120550, 120570	Complement deficiency C1q A chain and C1q B chain (complement component 1) syndromes with lupus-like symptoms	AD	Glomerulonephritis
306400, 233690, 233700	Granulomatous disease, chronic	XL, AR	Can cause glomerulonephritis
308240	Immunodeficiency, common variable	Uncertain AD or XL	Autoimmune changes (like SLE), amyloidosis
102700	Immunodeficiency syndrome, combined type, adenosine deaminase deficiency	AR	Glomerular mesangial sclerosis
308230	Immunodeficiency, X-linked, with hyper-IgM	XL	Glomerulonephritis
137100	Immunoglobulin A deficiency	Heterogeneous	Scleroderma, SLE-like changes
	Infantile (Bruton) agammaglobulinemia	Heterogeneous	Nephrolithiasis, hydronephrosis
243340	Ischemic hypoplasia-renal dysfunction immunodeficiency syndrome	AR	Renal dysfunction, mechanism?
242900	Schimke spondyloepiphyseal dysplasia immune defect (immunoosseous dysplasia) syndrome	AR	Immune complex glomerulonephritis, renal failure

1. GBM glomerular basement membrane, VSD ventricular septal defect, PDA patent ductus arteriosus, CNS central nervous system, ASD atrial septal defect, ARPKD autosomal recessive polycystic kidney disease, SLE systemic lupus erythematosus
2. Modified from Gilbert-Barness E, editor. Potter’s pathology of the fetus, infant, and child. 2nd ed. Philadelphia: Elsevier; 2007

Appendix 3: Renal and Urinary Tract Abnormalities in Chromosomal Defects

Name of syndrome	Chromosomal defects
Trisomies
Trisomy distal 2q	Urinary tract anomalies
Trisomy 3p	Renal anomalies
Trisomy 3q	Renal cystic dysplasia
Trisomy 3q, partial (de Lange syndrome)	Renal, urinary tract anomalies
Trisomy 4p	Renal anomalies
Trisomy distal 4q	Renal anomalies
Trisomy 5p	Hydronephrosis
Trisomy 6p	Urinary tract anomalies
Trisomy 7 mosaic	Renal agenesis, unilateral or bilateral
Trisomy 8	Obstructive uropathy with hydronephrosis, posterior urethral valves with hydroureters and hydronephrosis
Trisomy 9	Bilateral cystic dysplastic kidneys, atresia of proximal ureters, rudimentary atretic urinary bladder, microcysts of kidneys, double ureters, bladder diverticulum
Trisomy 10p	Renal anomalies, renal cysts, unilateral renal agenesis
Trisomy 10q	Renal anomalies
Trisomy 11p	Wiedemann-Beckwith syndrome
Trisomy 11q	Urinary tract anomalies
Trisomy 12p	Renal malformations
Trisomy 13	Duplication of kidneys and ureters, unilateral renal agenesis, stenosis of prostatic urethra, excessive renal arteries and veins, micro-multicystic or pluricystic kidneys, adult-type polycystic kidneys, excessive fetal lobulations, cystic dysplasia, segmental cystic dysplasia, cystic dilation of collecting system, hydronephrosis, ureteropelvic junction atresia, Wilms tumor
Trisomy distal 15q	Renal agenesis, recurrent urinary tract infections
Trisomy 17q	Renal anomalies
Trisomy 18	Cystic kidneys, horseshoe kidneys, ureteral duplication, renal duplication, renal dysplasia, renal agenesis, renal ectopy, renal glomerulosclerosis and cystic tubules, persistent metanephric blastema, micromulticystic kidneys, reduction of fetal lobulation, Wilms tumor
Trisomy 20p	Renal anomalies
Trisomy 21-Down syndrome	Renal dysplasia, nodular renal blastema, persistent fetal lobulation, retardation of maturation of nephrogenic zone of cortex, hemangioma, stricture of ureteropelvic junction, hydronephrosis, focal cystic malformation of collecting tubules, immature, glomeruli, glomerular cysts
Trisomy 22	Unilateral or bilateral
Deletions
5p (del(5p)) syndrome	Unilateral renal agenesis
9p-(del(9p)) syndrome	Hydronephrosis and horseshoe kidneys, micropenis, hypospadias, and/or cryptorchidism in males
11p-(del(11p)) syndrome and Wilms tumor	Wilms tumor, sometimes bilateral, disorganization of renal parenchyma, medullary origin of Wilms tumor
17p-(del(17p)) (Miller-Dieker syndrome)	Bilateral double collecting system, hydronephrosis and abnormal caliceal patterns, fetal lobulations, cystic kidneys, agenesis
18q-(del(18q)) syndrome	Cryptorchidism and hypospadias in males, horseshoe kidneys, bilateral cortical nephroblastomatosis
del(21)	Hypoplastic kidneys, unilateral renal agenesis, renal cystic dysplasia
Duplications
dup(lp)	Ambiguous genitalia
dup(2p), dup(3q), dup(9p), dup(15q)	Horseshoe kidneys
dup(3q), del(4p), del(11q), dup(3p), dup(10p), dup(12p), r(13), dup(13q), dup(14q) r(15)	Duplication of kidneys and/or ureters
dup(3q), del(4q), dup(4q), dup(5p), dup(6p) dup(8q), (10), del (11q), dup(17p), dup(19q)	Hydronephrosis
dup(3q), dup(10p), dup(lq), del(4p), r(22)	Cysts in kidneys
dup (4p)	Unilateral hydronephrosis, pelvic displacement of kidneys with caliceal ectasia, bilateral intrarenal pelvis and excessive rotation of kidneys, hypoplastic kidneys
dup (10q)	Cystic renal dysplasia, hydronephrosis
dup (20p)	Unilateral hydronephrosis with duplicated collecting system, hypospadias and cryptorchidism in males dup (3q) partial Brachmann de Lange syndrome
Monosomies
Monosomy 1q	Hydronephrosis, unilateral renal agenesis, penile urethra
Monosomy medial 2q	Renal hypoplasia
Monosomy 3p	Renal cystic dysplasia
Monosomy 4p (Wolf-Hirschhorn syndrome)	Renal anomalies, oligonephronic hypoplasia
Monosomy distal 4q	Renal anomalies
Monosomy 5p (cri du chat syndrome)	Renal anomalies
Monosomy interstitial 5q	Renal anomalies
Monosomy proximal 6q	Renal ectopia
Monosomy 10p	Urinary tract anomalies
Monosomy 10q	Hydronephrosis, urinary tract infections, renal failure
Monosomy 11p	Wilms tumor
Monosomy 11q	Hydronephrosis, renal duplication
Monosomy 12p	Double ureter
Monosomy 16q	Renal hypoplasia
Monosomy 18q	Renal anomalies
Monosomy 21	Unilateral renal agenesis, renal cystic dysplasia
Ring chromosomes
Ring chromosome 13	Renal hypoplasia and agenesis
Ring chromosome 15	Renal anomalies
Ring chromosome 22	Ureteropelvic stenosis, renal cysts
Other rare chromosome abnormalities
Chromosome abnormalities in renal cell carcinoma	Abnormal caliceal collecting system, unilateral aplasia, cystic kidneys, renal dysplasia
Triple X	Bilateral renal agenesis
45X (Turner)	Horseshoe kidney; hydroureter; hypertension, renal or secondary to coarctation
45 (Ullrich-Turner)	Horseshoe kidneys, double or clubbed renal pelvis, hypoplasia, hydronephrosis, bifid ureters, duplication of kidneys and/or ureters, unilateral renal agenesis, renal hypoplasia, retrocaval ureter with massive hydronephrosis, micromulticystic kidneys, membranoproliferative glomerulonephritis with persistent complement activation
47,XXX	Bilateral renal agenesis
47,XYY	Microcysts of kidneys, thin ureters, small bladder, cystic dysplastic kidneys
47,XXY, 48,XXXY, 49,XXXXY (Klinefelter syndromes)	Cryptorchidism, small testes, and hypoplastic scrotum in males; hydronephrosis, hydroureter, and ureterocele
Triploidy
Tetrasomy 18p	Horseshoe kidney, double ureter
Triploidy	Micromulticystic kidneys, hypoplasia, hydronephrosis, cryptorchidism, hypospadias, labia majora-like structures

1. Modified from Gilbert-Barness E, Opitz JM. Renal abnormalities in malformation syndromes. In: Edelmann CM, Bernstein J, editors. Pediatric kidney disease. Boston: Little, Brown & Co.; 1992