Ventura-Ríos L, Hernández-Díaz C, Gutiérrez-Pérez L, Bernal-González A, Pichardo-Bahena R, Cedeño-Garcidueñas A L, Pineda C
Musculoskeletal Ultrasound Laboratory, Instituto Nacional de Rehabilitación, Calzada México-Xochimilco 289, Col. Arenal de Guadalupe, Del. Tlalpan, 14389, México, D.F., Mexico.
Musculoskeletal Ultrasound Diploma Course, Instituto Nacional de Rehabilitación, Mexico City, Mexico.
Clin Rheumatol. 2016 May;35(5):1389-95. doi: 10.1007/s10067-014-2557-7. Epub 2014 Mar 20.
Alkaptonuria is a rare, hereditary metabolic disorder in which a deficiency in the homogentisate 1,2-dioxygenase enzyme results in an accumulation of homogentisic acid. Deposition of excess homogentisic acid in different intra- and extra-articular structures with high content of connective tissue causes brownish-black pigmentation and weakening, ultimately resulting in tissue degeneration and finally osteoarthritis. Ochronotic arthropathy is considered a rapidly progressive, disabling condition in which weight-bearing joints and the thoracolumbar spine are predominantly affected. Patients often require multiple joint replacements, such as in the case of the patient presented here. At present, there is no definitive cure for ochronosis, and management is predominantly symptomatic.
黑尿症是一种罕见的遗传性代谢紊乱疾病，其中尿黑酸1,2 -双加氧酶缺乏会导致尿黑酸积累。过量的尿黑酸沉积在结缔组织含量高的不同关节内和关节外结构中，会导致棕黑色色素沉着和组织弱化，最终导致组织变性并最终发展为骨关节炎。褐黄病性关节病被认为是一种快速进展的致残性疾病，其中负重关节和胸腰椎主要受到影响。患者通常需要进行多次关节置换，如此处介绍的患者病例。目前，褐黄病尚无确切的治愈方法，治疗主要是对症治疗。
