Type 4 renal tubular acidosis (subtype 2) in a patient with methylmalonic acidaemia

Eur J Pediatr. 1990 Dec;150(2):115-8. doi: 10.1007/BF02072052.

Abstract

A 10-month-old male infant with vitamin B12 non-responsive methylmalonic acidaemia is reported. Laboratory results revealed hyperkalaemic, hyperchloraemic, metabolic acidosis with slight azotaemia. The urinary pH decreased (below 5.5) to compensate for acidaemia. Levels of plasma renin activity and plasma aldosterone concentration were low. The renal biopsy showed tubulo-interstitial nephritis. We suggested the diagnosis of type 4 renal tubular acidosis, subtype 2, i.e. hyporeninaemic hypoaldosteronism. We suggest that chronic renal disease may be a common complication of methylmalonic acidaemia.

Publication types

  • Case Reports

MeSH terms

  • Acidosis, Renal Tubular / blood*
  • Acidosis, Renal Tubular / etiology
  • Acidosis, Renal Tubular / pathology
  • Aldosterone / blood
  • Biopsy
  • Humans
  • Infant
  • Ketosis / complications
  • Kidney / pathology
  • Kidney Function Tests
  • Male
  • Methylmalonic Acid / blood*
  • Renin / blood

Substances

  • Aldosterone
  • Methylmalonic Acid
  • Renin