Lange U, Müller-Ladner U, Dischereit G
Internistische Rheumatologie, Osteologie, Physikalische Medizin, Abteilung Rheumatologie und Klinische Immunologie, Justus-Liebig-Universität Gießen, Kerckhoff-Klinik GmbH, Benekestr. 2-8, 61231, Bad Nauheim, Deutschland,
Z Rheumatol. 2014 Jun;73(5):420-3. doi: 10.1007/s00393-013-1343-2.
The congenital form of ochronosis is a result of the rare autosomal recessive inherited metabolic disease alkaptonuria. The disruption of tyrosine metabolism based on a genetic defect in the enzyme homogentisate dioxygenase results in accumulation of homogentisic acid (HA) which is excreted in the urine and leads to a dark discoloration after a certain incubation time at room temperature. Furthermore, HA polymerizes forming a pigment that is deposited in connective tissues such as tendons, cartilage, bones, intervertebral discs, sclerae, ossicles, cardiac valves and coronary arteries and leads to dark brown discoloration and degeneration. The case of a 74-year-old female patient with ochronosis and classical manifestations is described and in addition a current overview of this rare disease is provided.
先天性褐黄病是一种罕见的常染色体隐性遗传代谢疾病——尿黑酸尿症的结果。基于尿黑酸双加氧酶的基因缺陷导致酪氨酸代谢紊乱，从而使尿黑酸（HA）积累，HA经尿液排出，在室温下经过一定的孵育时间后会导致尿液变黑。此外，HA会聚合形成一种色素，沉积在肌腱、软骨、骨骼、椎间盘、巩膜、听小骨、心脏瓣膜和冠状动脉等结缔组织中，导致深褐色变色和变性。本文描述了一名患有褐黄病且有典型症状的74岁女性患者的病例，并提供了关于这种罕见疾病的最新概述。
