Persistent isolated proximal renal tubular acidosis--a systemic disease with a distinct clinical entity

Pediatr Nephrol. 1994 Feb;8(1):70-1. doi: 10.1007/BF00868266.


We describe a 16-year-old female with persistent isolated proximal renal tubular acidosis, cerebral calcification, mental retardation, band keratopathy, cataracts, glaucoma and short stature. Severe metabolic acidosis and hypokalaemia were linked to an abnormally low renal threshold for bicarbonate reabsorption (8 mmol/l). Maximal rates of urinary excretion of titratable acid and ammonium were normal; erythrocyte carbonic anhydrase II was normal. This rare case represents a systemic disease with a distinct clinical entity which may be transmitted by autosomal recessive inheritance.

Publication types

  • Case Reports

MeSH terms

  • Acidosis, Renal Tubular / complications*
  • Acidosis, Renal Tubular / genetics
  • Adolescent
  • Brain Diseases / complications
  • Calcinosis / complications
  • Cataract / complications
  • Corneal Diseases / complications
  • Female
  • Glaucoma / complications
  • Growth Disorders / complications
  • Humans