[黑尿症：一种罕见的代谢紊乱。两例同胞病例报告]

[Alkaptonuria: a rare metabolic disorder. A report of two cases in siblings].

作者信息

Matuszewska Elzbieta, Kaczmarski Maciej, Wasilewska Jolanta, Daniluk Urszula, Krasnow Aleksander, Mikołuć Bozena

机构信息

III Klinika Chorób Dzieci Akademii Medycznej w Białymstoku.

出版信息

Pol Merkur Lekarski. 2003 May;14(83):444-6.

PMID:12939823

Abstract

Alkaptonuria is a rare metabolic condition caused by congenital homogentisate oxidase deficiency of recessive inheritance. Homogentisate polymers are accumulated and cause urine darkening, brown pigmentation of connective tissue, articular cartilage pathology. The authors present clinical picture, pathogenesis, diagnostic and therapeutic possibilities in patients with alkaptonuria. Two siblings with alkaptonuria are described.

摘要

黑尿症是一种罕见的代谢性疾病，由隐性遗传的先天性尿黑酸氧化酶缺乏引起。尿黑酸聚合物会蓄积，导致尿液变黑、结缔组织褐色色素沉着、关节软骨病变。作者介绍了黑尿症患者的临床表现、发病机制、诊断和治疗方法。文中描述了两名患黑尿症的兄弟姐妹。