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Alport Syndrome and Thin Basement Membrane Nephropathy

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Pediatric Kidney Disease

Abstract

Several forms of familial glomerular hematuria result from mutations that affect type IV collagen, the major collagenous constituent of glomerular basement membranes (GBM): Alport syndrome (AS), thin basement membrane nephropathy (TBMN) and HANAC syndrome. Persistent hematuria is a cardinal feature of each of these disorders. Mutations in any of three type IV collagen genes, COL4A3, COL4A4 or COL4A5 can cause AS, which is characterized clinically by progressive deterioration of kidney function with associated hearing and ocular involvement in many affected individuals. TBMN, previously known as “benign familial hematuria”, generally is non-progressive and does not have associated extra-renal findings. About 40 % of cases of TBMN exhibit mutations in COL4A3 or COL4A4 or linkage to one of these genes. Together, AS and TBMN account for about 30–50 % of children with isolated glomerular hematuria seen in pediatric nephrology clinics (Trachtman et al. Kidney Int 25:94–99, 1984; Schroder et al. Acta Paediatr Scand 79:630–636, 1990; Lang et al. Histopathology 16:331–337, 1990; Piqueras et al. Pediatr Nephrol 12:386–391, 1998). Hereditary angiopathy with nephropathy, aneurysms and cramps (HANAC syndrome) arises from mutations in the COL4A1 gene.

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Authors and Affiliations

  1. Department of Pediatrics, Division of Pediatric Nephrology, University of Minnesota Masonic Children’s Hospital, 2450 Riverside Ave, MB 680, Minneapolis, MN, 55454, USA

    Michelle N. Rheault & Clifford E. Kashtan

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  1. Michelle N. Rheault
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  2. Clifford E. Kashtan
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Correspondence to Clifford E. Kashtan .

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  1. Division of Nephrology, The Hospital for Sick Children, Toronto, Ontario, Canada

    Denis F. Geary

  2. Division of Pediatric Nephrology, University of Heidelberg, Heidelberg, Germany

    Franz Schaefer

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Rheault, M.N., Kashtan, C.E. (2016). Alport Syndrome and Thin Basement Membrane Nephropathy. In: Geary, D., Schaefer, F. (eds) Pediatric Kidney Disease. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-52972-0_18

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