Murgić Lucija, Grubisić Frane, Jajić Zrinka
University Department of Rheumatology, Physical Medicine and Rehabilitation, Sestre milosrdnice University Hospital, Zagreb, Croatia.
Acta Clin Croat. 2008 Jun;47(2):105-9.
Alkaptonuria is a rare metabolic disorder characterized by a deficiency of the homogentisic acid oxidase enzyme. The result is accumulation of homogentisic acid in collagenous structures throughout the body, especially in fibrous and cartilaginous tissue. This leads to gradual development of a phenomenon known as ochronosis. Characteristic features of ochronosis are urine darkening, progressive scleral pigmentation, subcutaneous cartilage pigmentation (for example, ear cartilage and nails) and degenerative ochronotic arthropathy resembling osteoarthritis. In addition, cardiovascular and genitourinary systems are also affected. Alkaptonuric ochronosis is particularly interesting because it can be detected based only on clinical signs and medical history. Herein we present a patient with typical signs and symptoms such as darkening of urine, pigmented sclerae, nails and ear cartilage, manifesting arthritis in his fifth decade. Additional clinical examination indicated alkaptonuria, which was unrecognized in childhood.
黑尿症是一种罕见的代谢紊乱疾病，其特征是尿黑酸氧化酶缺乏。结果是尿黑酸在全身的胶原结构中积累，尤其是在纤维组织和软骨组织中。这导致了一种称为褐黄病的现象逐渐发展。褐黄病的特征包括尿液变黑、巩膜色素沉着进行性加重、皮下软骨色素沉着（如耳软骨和指甲）以及类似骨关节炎的退行性褐黄病性关节病。此外，心血管系统和泌尿生殖系统也会受到影响。黑尿症性褐黄病特别有趣，因为仅根据临床体征和病史就能检测出来。在此，我们报告一名患者，其具有典型的体征和症状，如尿液变黑、巩膜、指甲和耳软骨色素沉着，在五十多岁时出现关节炎。进一步的临床检查表明该患者患有黑尿症，而其在儿童时期未被诊断出来。
