期刊
NEPHROLOGY DIALYSIS TRANSPLANTATION
卷 28, 期 4, 页码 811-820出版社
OXFORD UNIV PRESS
DOI: 10.1093/ndt/gfs545
关键词
cystinuria; Dihydroxyadeninuria; hyperoxaluria; Mendelian inheritance; renal stones
Nephrolithiasis is a common disorder, with a rising prevalence in the general population. Its pathogenesis is still unclear, but a role for genetics has long been recognized, especially in cases of the more common calcium nephrolithiasis. Although relatively rare, monogenic causes of hypercalciuria and nephrolithiasis do exist and their timely recognition is important from a prognostic and therapeutic viewpoint. This article reviews the clinical and laboratory findings characterizing inherited causes of nephrolithiasis with a view to helping clinicians to recognize and manage these rare conditions.
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