Renal magnesium wasting, incomplete tubular acidosis, hypercalciuria and nephrocalcinosis in siblings

Eur J Pediatr. 1978 Jun 20;128(2):67-79. doi: 10.1007/BF00496992.


Polyuria, hyposthenuria, hypomagnesemia, hypercalciuria, advanced nephrocalcinosis, low citrate excretion and low glomerular filtration rates were observed in two female siblings who were followed over 10 years. Acid loading revealed incomplete distal tubular acidosis. Hypomagnesemia was due to renal magnesium wasting. It is suggested that the defect in tubular transport of magnesium is an important factor in the pathogenesis of this syndrome.

Publication types

  • Case Reports

MeSH terms

  • Acidosis, Renal Tubular / genetics*
  • Adolescent
  • Adult
  • Calcium / urine*
  • Citrates / urine
  • Female
  • Glomerular Filtration Rate
  • Humans
  • Magnesium / urine*
  • Nephrocalcinosis / genetics*
  • Polyuria / genetics
  • Renal Tubular Transport, Inborn Errors / genetics*


  • Citrates
  • Magnesium
  • Calcium