Familial idiopathic hypercalciuria

N Engl J Med. 1979 Feb 15;300(7):337-40. doi: 10.1056/NEJM197902153000703.

Abstract

The frequency of hypercalciuria was determined in the families of nine hypercalciuric patients with idiopathic hypercaliuria who formed recurrent calcium oxalate renal stones. Idiopathic hypercalciuria occurred in 26 of 73 relatives, in three consecutive generations of two families and in two successive generations of four other families. Multiple siblings or children of the probands were affected in three families. Nineteen of 44 first-degree relatives (43 per cent) had idiopathic hypercalciuria, as compared to seven of 29 (29 per cent) other relatives; there was no relation to age or sex. Renal stones were formed by 19 of the 44 first-degree relatives but by none of the others; nine of the 19 were women. We conclude that there is a familial form of hypercalciuria, which appears to be transmitted as an autosomal dominant trait. Stone disease is frequent in first-degree relatives, and affects both sexes equally.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Age Factors
  • Calcium / urine*
  • Calcium Metabolism Disorders / genetics*
  • Calcium Metabolism Disorders / urine
  • Female
  • Humans
  • Kidney Calculi / genetics
  • Male
  • Middle Aged
  • Pedigree

Substances

  • Calcium