Castagna A, Giombini A, Vinanti G, Massazza G, Pigozzi F
Humanitas Clinical Institute, Rozzano, Milan, Italy.
Knee Surg Sports Traumatol Arthrosc. 2006 Feb;14(2):176-81. doi: 10.1007/s00167-005-0657-2. Epub 2005 Aug 3.
Alcaptonuria is an inherited hereditary metabolic disorder, which is associated with various systemic abnormalities and related to the accumulation of homogentisic acid and a derived melanine-like pigment in the connective tissues; the latter is termed ochronosis. We present the arthroscopic findings in the shoulder of a 58-year-old female with ochronotic arthropathy and discuss the role of arthroscopy in the diagnosis and management of this rare metabolic disorder.
黑尿症是一种遗传性代谢紊乱疾病,与多种全身异常有关,且与尿黑酸及一种类似黑色素的衍生物在结缔组织中的蓄积有关;后者被称为褐黄病。我们展示了一名58岁患有褐黄病性关节病女性患者肩部的关节镜检查结果,并讨论了关节镜检查在这种罕见代谢紊乱疾病的诊断和治疗中的作用。