Familial hypomagnesaemia--hypercalciuria leading to end-stage renal failure

Pediatr Nephrol. 1995 Feb;9(1):74-6. doi: 10.1007/BF00858976.


Several disorders of hypomagnesaemia of hetary renal origin are now recognised. The cases of two sisters from a consanguineous marriage with the syndrome of renal magnesium wasting, hypercalciuria and nephrocalcinosis are presented. Pathological examination of the heterozygous parental kidneys revealed mild focal interstitial fibrosis. This condition is a previously unreported cause of end-stage renal failure in childhood, and this report suggests that transplantation from heterozygous parental donors can be successfully undertaken without recurrence of the syndrome.

Publication types

  • Case Reports

MeSH terms

  • Calcium / urine*
  • Child
  • Consanguinity
  • Female
  • Humans
  • Kidney Failure, Chronic / etiology*
  • Kidney Failure, Chronic / therapy
  • Kidney Transplantation / physiology
  • Magnesium / blood*
  • Metal Metabolism, Inborn Errors / complications*
  • Metal Metabolism, Inborn Errors / genetics*
  • Metal Metabolism, Inborn Errors / metabolism
  • Nephrocalcinosis / etiology


  • Magnesium
  • Calcium