Hypomagnesaemia-hypercalciuria-nephrocalcinosis: a report of nine cases and a review

Nephrol Dial Transplant. 2000 May;15(5):605-10. doi: 10.1093/ndt/15.5.605.


Background: The cardinal characteristics of primary hypomagnesaemia-hypercalciuria-nephrocalcinosis include renal magnesium wasting, marked hypercalciuria, renal stones, nephrocalcinosis, a tendency towards chronic renal insufficiency and sometimes even ocular abnormalities or hearing impairment.

Methods: As very few patients with this syndrome have been described, we provide information on nine patients on follow-up at our institutions and review the 42 cases reported in the literature (33 females and 18 males).

Results: Urinary tract infections, polyuria-polydipsia, renal stones and tetanic convulsions were the main clinical findings at diagnosis. The clinical course was highly variable; renal failure was often reported. The concomitant occurrence of ocular involvement or hearing impairment was reported in a large subset of patients. Parental consanguinity was noted in some families.

Conclusions: The results indicate an autosomal recessive inheritance. The diagnosis of primary hypomagnesaemia-hypercalciuria-nephrocalcinosis deserves consideration in any patient with nephrocalcinosis and hypercalciuria.

Publication types

  • Review

MeSH terms

  • Adolescent
  • Adult
  • Calcium / blood*
  • Child
  • Eye Diseases / complications
  • Female
  • Hearing Disorders / complications
  • Humans
  • Kidney Diseases / complications
  • Magnesium / blood*
  • Male
  • Nephrocalcinosis / complications*
  • Seizures / complications
  • Syndrome
  • Urologic Diseases / complications


  • Magnesium
  • Calcium