Farreli J, Shoemaker J D, Otti T, Jordan W, Schoch L, Neu L T, Bastani B
Division of Nephrology, St Louis University Health Sciences Center-School of Medicine, MO 63110, USA.
Am J Kidney Dis. 1997 Jun;29(6):947-52. doi: 10.1016/s0272-6386(97)90471-6.
We present the case of a young woman who developed renal failure of unknown cause, and after 2 months of maintenance hemodialysis developed livedo reticularis, retinopathy, and peripheral sensory neuropathy. The patient was subsequently shown to have primary oxalosis type I, a rare autosomal recessive error of metabolism characterized by accumulation of calcium oxalate crystals in the kidneys, eyes, skin, and other organs. Intravascular obstruction, caused by deposition of calcium oxalate crystals in cutaneous arterioles, is thought to be responsible for the ischemic livedo reticularis lesions observed in this patient. A method is described for measuring serum glycolate by isotope dilution gas chromatography-mass spectrometry (GC-MS). An approach to the diagnosis and management is also briefly mentioned.
我们报告了一例年轻女性病例，该患者出现不明原因的肾衰竭，在维持性血液透析2个月后出现网状青斑、视网膜病变和周围感觉神经病变。随后发现该患者患有I型原发性高草酸尿症，这是一种罕见的常染色体隐性代谢紊乱疾病，其特征是草酸钙晶体在肾脏、眼睛、皮肤和其他器官中蓄积。草酸钙晶体在皮肤小动脉中的沉积导致的血管内阻塞被认为是该患者出现缺血性网状青斑病变的原因。本文描述了一种通过同位素稀释气相色谱-质谱联用仪（GC-MS）测量血清乙醇酸的方法。同时也简要提及了诊断和管理方法。
