Distal renal tubular acidosis and ovalocytosis: a case report

Osteoporos Int. 2008 Jan;19(1):119-22. doi: 10.1007/s00198-007-0419-8. Epub 2007 Aug 10.

Abstract

A 23-year-old man presented with osteoporosis, revealed by femoral fractures, and a history of nephrolithiasis, short stature, metabolic acidosis, hypokalemia and ovalocytosis, a red blood cell abnormality common in malaria endemic regions. Biological investigations led to the diagnosis of type 1 distal renal tubular acidosis (dRTA). Ovalocytosis and dRTA may co-exist in the same patient, since both can originate in mutations of the anion-exchanger 1 (AE1) gene, which codes for band 3, the bicarbonate/chloride exchanger, present in both the red cell membrane and the basolateral membrane of the collecting tubule alpha-intercalated cell.

Publication types

  • Case Reports

MeSH terms

  • Absorptiometry, Photon
  • Acidosis, Renal Tubular* / complications
  • Acidosis, Renal Tubular* / diagnosis
  • Adult
  • Anion Exchange Protein 1, Erythrocyte
  • Bone Density
  • Elliptocytosis, Hereditary / complications*
  • Humans
  • Male
  • Mutation
  • Osteoporosis / complications*
  • Osteoporosis / diagnostic imaging

Substances

  • Anion Exchange Protein 1, Erythrocyte