关键词: 高草酸尿症, 肾结石, 基因诊断

Abstract:

ABSTRACT Here in we presented a case of a 12-year-old boy who was diagnosed nephrolithiasis 6 years ago and laboratory analysis conformed calcium oxalate monohydrate as the composition of the stones. His serum creatinine level was found elevated 8 months ago and his renal function deteriorated in recent one month. His father was also diagnosed nephrolithiasis but the stone was quite small. With the help of monogenic disease screen we confirmed the diagnosis of primary hyperoxaluria. In this case we concluded that analysis of stone composition and GRHPR gene are very useful for diagnosis of hyperoxaluria type II．

Key words: primary hyperoxaluria, kidney stone, gene , diagnosis