原发性高草酸尿
医学
肾钙质沉着症
草酸钙
突变
内分泌学
内科学
代谢紊乱
草酸盐
肾
钙
遗传学
生物
化学
有机化学
基因
作者
Michel Tintillier,J.-M. Pochet,J.-P. Cosyns,Etienne Delgrange,Julian Donckier
出处
期刊:Clinical Nephrology
[Dustri-Verlag Dr. Karl Feistle]
日期:2004-08-01
卷期号:62 (08): 155-157
被引量:4
摘要
Primary hyperoxaluria type 1 (PH1) is a rare autosomal metabolic recessive disease, caused by the deficiency of the liver peroxysomal alanine:glyoxylate aminotransferase (AGT), characterized by accumulation of calcium oxalate crystals in kidneys and others organs. We present the case of an elderly woman with PH1, presenting as acute renal failure. Precipitation of calcium oxalate crystals was probably due to amiodarone-induced severe hypothyroidism. Residual AGT activity is associated with the G170R (G630A) mutation. A new mutation of AGT, called R36C, was also discovered; the role of this new mutation is actually not known.
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