Grosicka Anida, Kucharz Eugeniusz Józef
Klinika Chorób Wewnetrznych i Reumatologii, Samodzielny Publiczny Szpital Kliniczny Nr 7 SUM w Katowicach.
Wiad Lek. 2009;62(3):197-203.
Alkaptonuria is a hereditary disease resulted from accumulation of homogentisic acid within the body due to deficiency of homogentisic acid oxidase. The main clinical feature is dark brown color of urine caused by high urinary output of homogentisic acid. There are no other symptoms or signs of the disease until the fourth decade of life when ochronosis is developed. Life-long accumulation of abnormal metabolites becomes overt in form of severe spondylosis, peripheral arthropathy, tendon rupture, bone osteoporosis as well as aortic valve stenosis and skin pigmentation. The features of the disease are associated with affinity of homogentisic acid to the connective tissue and its effect on collagen structure. Only symptomatic treatment is applied in case of alkaptonuria and ochronosis.
黑尿症是一种遗传性疾病，由于尿黑酸氧化酶缺乏，导致体内尿黑酸蓄积。主要临床特征是尿黑酸尿排出量高致使尿液呈深褐色。在出现褐黄病的生命第四个十年之前，该病无其他症状或体征。异常代谢产物的终身蓄积以严重的脊柱关节病、外周关节病、肌腱断裂、骨质疏松以及主动脉瓣狭窄和皮肤色素沉着的形式显现出来。该病的特征与尿黑酸对结缔组织的亲和力及其对胶原蛋白结构的影响有关。对于黑尿症和褐黄病，仅采取对症治疗。
