Kusz D
Katedra i Oddział Kliniczny Ortopedii, Slaska Akademia Medyczna w Katowicach.
Chir Narzadow Ruchu Ortop Pol. 1999;64(6):677-82.
Alkaptonuria is a rare metabolic condition caused by congenital homogentisate oxidase deficiency of recessive autosomal inheritance. Homogentisate polymers are accumulated and cause urine darkening (alcaptonuria), brown/black pigmentation of connective tissue (ochronosis), articular cartilage pathology, osteoporosis and patomorphologic changes in internal organs. A case of 61 female with ochronotic polyarthropathy is presented. An early result of Weller THR is encouraging. Pathogenesis, clinical picture, diagnostics and treatment of alkaptonuria is presented on the ground of the literature.
黑尿症是一种罕见的代谢性疾病，由隐性常染色体遗传的先天性尿黑酸氧化酶缺乏引起。尿黑酸聚合物积聚，导致尿液变黑（黑尿症）、结缔组织棕色/黑色色素沉着（褐黄病）、关节软骨病变、骨质疏松以及内脏病理形态学改变。本文报告一例61岁患褐黄病性多关节病的女性病例。韦勒全髋关节置换术的早期结果令人鼓舞。基于文献阐述了黑尿症的发病机制、临床表现、诊断和治疗。
