107. Genetic Basis of Renal Stones

  1. Clifford J. Rosen MD
  1. Rajesh V. Thakker

Published Online: 19 JUL 2013

DOI: 10.1002/9781118453926.ch107

Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism, Eighth Edition

Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism, Eighth Edition

How to Cite

Thakker, R. V. (2013) Genetic Basis of Renal Stones, in Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism, Eighth Edition (ed C. J. Rosen), John Wiley & Sons, Inc., Ames, USA. doi: 10.1002/9781118453926.ch107

Publication History

  1. Published Online: 19 JUL 2013

ISBN Information

Print ISBN: 9781118453889

Online ISBN: 9781118453926

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Keywords:

  • autosomal dominant hypocalcaemic hypercalciuria (ADHH);
  • Bartter syndrome;
  • Dent's disease;
  • familial hypomagnesaemia;
  • genetics;
  • hypercalciuric nephrolithiasis;
  • hypocalcemic hypercalciuria;
  • idiopathic hypercalciuria (IH);
  • renal stones

Summary

This chapter focuses on the genetics of renal stones and in particular those associated with hypercalciuric renal stone disease (nephrolithiasis) in man. The greatest risk factor for nephrolithiasis, after controlling for known dietary determinants, is having an affected family member. Families with idiopathic hypercalciuria (IH) and recurrent calcium oxalate stones usually reveal an autosomal dominant mode of inheritance. Patients with autosomal dominant hypocalcaemia with hypercalciuria (ADHH) usually have mild hypocalcaemia that is generally asymptomatic but may in some patients be associated with carpopedal spasm and seizures. Studies of monogenic forms of hypercalciuric nephrolithiasis, e.g., Bartter syndrome, Dent's disease, autosomal dominant hypocalcemic hypercalciuria, hypercalciuric nephrolithiasis with hypophosphatemia, and familial hypomagnesemia with hypercalciuria have helped to identify a number of transporters, channels, and receptors that are involved in regulating the renal tubular reabsorption of calcium.