Cerebral calcification, osteopetrosis and renal tubular acidosis: is it carbonic anhydrase-II deficiency?

Saudi J Kidney Dis Transpl. 2013 May;24(3):561-5. doi: 10.4103/1319-2442.111067.

Abstract

Carbonic anhydrase-II deficiency is an autosomal recessive disorder with a triad of cerebral calcification, osteopetrosis and renal tubular acidosis (often combined proximal and distal). Mental retardation, growth failure, complications of osteopetrosis and other features were all recorded in this syndrome. We present a case of an Iraqi male with all these features and a positive family history.

Publication types

  • Case Reports

MeSH terms

  • Acidosis, Renal Tubular / diagnosis*
  • Acidosis, Renal Tubular / enzymology
  • Acidosis, Renal Tubular / genetics
  • Acidosis, Renal Tubular / therapy
  • Adult
  • Brain Diseases / diagnosis*
  • Brain Diseases / enzymology
  • Brain Diseases / genetics
  • Brain Diseases / therapy
  • Calcinosis / diagnosis*
  • Calcinosis / enzymology
  • Calcinosis / genetics
  • Calcinosis / therapy
  • Carbonic Anhydrases / deficiency
  • Carbonic Anhydrases / genetics
  • Genetic Predisposition to Disease
  • Growth Disorders / diagnosis
  • Humans
  • Intellectual Disability / diagnosis
  • Male
  • Osteopetrosis / diagnosis*
  • Osteopetrosis / enzymology
  • Osteopetrosis / genetics
  • Osteopetrosis / therapy
  • Phenotype
  • Predictive Value of Tests
  • Prognosis
  • Syndrome
  • Tomography, X-Ray Computed
  • Urea Cycle Disorders, Inborn / diagnosis*
  • Urea Cycle Disorders, Inborn / enzymology
  • Urea Cycle Disorders, Inborn / genetics
  • Urea Cycle Disorders, Inborn / therapy

Substances

  • Carbonic Anhydrases

Supplementary concepts

  • Osteopetrosis with renal tubular acidosis