IBMS BoneKEy | Perspective

Genetic causes of renal lithiasis

Dominique Prié
Gérard Friedlander

---

DOI:10.1138/20090400

Abstract

The great majority of renal stones are made of calcium, phosphate, oxalate or uric acid. The frequency of familial cases of renal stones and studies of nephrolithiasis occurrence in monozygote and dizygote twins suggest that genetic factors contribute significantly to renal stone formation. Disorders that alter ion transport in the kidney or in the intestine or that are associated with impaired bone formation may augment the risk of renal stone formation by increasing urine saturation. Recent data indicate that in most cases, renal stones form at the tip of the loop of Henle and then grow at the surface of the papilla by heterogeneous nucleation. Increasing knowledge of physiology and the targeted disruption of genes in mice have facilitated the identification of mutations or rare polymorphisms in various genes in humans. In this review we consider the pathophysiology of renal stone formation and describe the genetic disorders associated with nephrolithiasis.

---

This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 3.0 United States License.