Chanchlani R, Sinha A, Gulati A, Agarwal V, Bagga A
Department of Pediatrics, Division of Nephrology, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, India.
Indian J Nephrol. 2012 Nov;22(6):459-61. doi: 10.4103/0971-4065.106044.
Primary hyperoxaluria is an autosomal recessive disorder caused by deficiency of alanine-glyoxylate aminotransferase, which is encoded by the AGXT gene. We report three Indian children with primary hyperoxaluria type1 having a common mutation in this gene. All patients had evidence of chronic kidney disease at the time of diagnosis, with subsequent progression to end-stage renal disease. The detection of an identical mutation in the AGXT gene suggests that specific genetic screening for this mutation may be useful when considering the diagnosis of primary hyperoxaluria type1.
原发性高草酸尿症是一种常染色体隐性疾病，由丙氨酸 - 乙醛酸氨基转移酶缺乏引起，该酶由AGXT基因编码。我们报告了三名患有1型原发性高草酸尿症的印度儿童，他们在该基因中存在一个共同突变。所有患者在诊断时均有慢性肾病的证据，随后进展为终末期肾病。AGXT基因中相同突变的检测表明，在考虑诊断1型原发性高草酸尿症时，针对该突变的特定基因筛查可能有用。
