Abstract
In the clinical picture of genuine human alkaptonuria, excretion of homogentisic acid in urine remains the only pathological sign for decades. Meanwhile in the body of the patients with alkaptonuria, the process takes place that is much more serious from pathological-anatomical as well clinical point of view – deposition of homogentisic acid and its derivatives in some tissues causes their discoloration. According to Bürger (1954), vital staining of so-called bradytrophic tissues takes place. Basically it is a benign process that is asymptomatic for a long time. As time goes by, age and lower resistance of tissues prepare the conditions for pathological changes, namely, of degenerative character, with the subsequent manifestation of articular as well as extra articular signs. Tissues containing homogentisic acid and its oxidative polymer – pigment – have typical yellow-brown or even black colour. The first pathological-anatomical description of this disease was made by Virchow in 1865 (Virchow 1866).
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References
Albrecht, H.: Über Ochronose. Z. Heilkunde. 23, 366–378 (1902)
Boedecker, C.: Über das Alcapton; ein neuer Beitrag zur Frage: Welche Stoffe des Harnes können Kupferreduktion bewirken? Z. Rat. Med. 7, 130–145 (1859)
Bürger, M.: Einführung in die pathologische Physiologie. Thieme, Leipzig (1954)
Červeňanský, J., Siťaj, Š., Urbánek, T.: Alkaptonuria and ochronosis. J. Bone Joint Surg. Am. 41, 1169–1182 (1959)
Coodley, E.L., Greco, A.J.: Clinical aspects of ochronosis. Wih report of a case. Am. J. Med. 8, 816–822 (1950)
Fisher, A.A., Davis, M.W.: Alkaptonuric ochronosis with aortic valve and joint replacements and femoral fracture: a case report and literature review. Clin. Med. Res. 2, 209–215 (2004)
Gaines, J.J., Pai, P.M.: Cardiovascular ochronosis. Arch. Pathol. Lab. Med. 111, 991–994 (1987)
Galdston, M., Steel, M., Dobriner, K.: Alcaptonuria and ochronosis; with a report of three patients and metabolic studies in two. Am. J. Med. 13, 432–452 (1952)
Gross, O., Allard, E.: Untersuchungen über Alkaptonurie. Z. Klin. Med. 64, 359–369 (1907)
Hulten, O., Gellerstedt, N.: Über Abnutzungsprodukte in Gelenken und ihre Resorption unter dem Bilde einer Synovitis detritica. Acta Chir. Scand. 84, 1–29 (1941)
Katsch, G.: Genuine und relative Alkaptonurie. Z. Klin. Med. 119, 1–9 (1932)
Keller, J.M., Macaulay, W., Nercessian, O.A., Jaffe, I.A.: New developments in ochronosis: review of the literature. Rheumatol. Int. 25, 81–85 (2005)
Kleinschmidt, W.: Über einen Fall von ‘endogener Ochronose bei Alkaptonurie’ (in German) Frankfurt Z. Pathol. 28, 73 (1922)
Knudson, C.B., Knudson, W.: Cartilage proteoglycans. Semin. Cell Dev. Biol. 12, 69–78 (2001)
Kocyigit, H., Gurgan, A., Terzioglu, R., Gurgan, U.: Clinical, radiographic and echocardiographic findings in a patient with ochronosis. Clin. Rheumatol. 17, 403–406 (1998)
Lagier, R., Steiger, U.: Hip arthropathy in ochronosis: anatomical and radiological study. Skeletal Radiol. 5, 91–98 (1980)
Lerner, A.B.: Metabolism of phenylalanine and tyrosine. Adv. Enzymol. Relat. Subj. Biochem. 14, 73–128 (1953)
Lichtenstein, L., Kaplan, L.: Hereditary ochronosis; pathologic changes observed in two necropsied cases. Am. J. Pathol. 30, 99–125 (1954)
Marshall, D.: Med. News (Philadelphia) 35, (1887)
Pick, L.: Über die Ochronose. Berl. Klin. Wochenschr. 43, 556 (1906a)
Pick, L.: A Case of Ochronosis. Lancet 1, 1144 (1906b)
Procházka, J., Hněvkovský, O.: Degenerative articular changes in alkaptonuria and their role in the problem of etiology of arthroses. Acta Chir. Orthop. Traumatol. Cech. 20, 53–59 (1953)
Švejda, J.: Příspěvek k otázce ochronozy. Čas Lék Čes 84, 1036–1038 (1945) the remark (in Czech)
Umber, F.: Ernährung und Stoffwechselkrankheiten. Urban und Schwarzenberg, Berlin-Wien (1925)
Virchow, R.: Ein Fall von allgemeiner Ochronose der Knorpel und knorpelähnlichen Theile. Virchows Arch. 37, 212–219 (1866)
Wooley, P.B.: Exogenous ochronosis. Br. Med. J. 2, 760–761 (1952)
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Rovenský, J., Urbánek, T. (2015). Clinical Manifestation of Alkaptonuria and Ochronosis. In: Rovenský, J., Urbánek, T., Oľga, B., Gallagher, J. (eds) Alkaptonuria and Ochronosis. Springer, Cham. https://doi.org/10.1007/978-3-319-15108-3_9
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DOI: https://doi.org/10.1007/978-3-319-15108-3_9
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