Late-onset primary hyperoxaluria type 1 in a Chinese individual with absent alanine: glyoxylate aminotransferase activity

Nephrolithiasis is a common clinical problem, and its cause is often classified as idiopathic. Primary hyperoxaluria, mostly type 1, constitutes one of the rare causes of recurrent nephrolithiasis, but its diagnosis is often missed or delayed. The exact prevalence of primary hyperoxaluria type 1 ( PH1 ), therefore, has been unclear. The reported prevalence varies in different countries. No Chinese PH1 has ever been reported in the literature. We report a rare case of late-onset primary hyperoxaluria, which was diagnosed only after the development of end-stage renal failure. To our knowledge, this case is the first confirmed Chinese PH1.

Late-onset primary hyperoxaluria type 1 in a Chinese individual with absent alanine: glyoxylate aminotransferase activity