Osteopetrosis, renal tubular acidosis without urinary concentration abnormality, cerebral calcification and severe mental retardation in three Turkish brothers

J Pediatr Endocrinol Metab. 2001 Nov-Dec;14(9):1671-7.


Deficiency of carbonic anhydrase II (CA II) isoenzyme produces metabolic disorders of bone, kidney and brain. In this report we describe the clinical, radiological, pathological and genetic findings in three brothers who were affected with the autosomal recessive syndrome of osteopetrosis, renal tubular acidosis (RTA) and cerebral calcification. The RTA was hybrid type, but urinary concentration ability was intact. Additional features were severe mental retardation, stunted growth, microcephaly, dental malocclusion, high-arched palate, and broad thumbs. Previous reported patients with this syndrome were predominantly from the Middle East and Mediterranean region. This is the first report with CA II deficiency from the Turkish population. The presence of mental retardation and relative infrequency of skeletal fractures in our patients resembles the clinical course of patients with the Arabic mutation of the CA II gene, but this mutation was not found in our patients.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Acidosis, Renal Tubular / genetics*
  • Acidosis, Renal Tubular / physiopathology*
  • Adolescent
  • Adult
  • Brain Diseases / diagnosis
  • Brain Diseases / genetics*
  • Calcinosis / diagnosis
  • Calcinosis / genetics*
  • Child
  • Humans
  • Intellectual Disability / genetics*
  • Kidney Concentrating Ability / genetics*
  • Magnetic Resonance Imaging
  • Male
  • Osteopetrosis / diagnostic imaging
  • Osteopetrosis / genetics*
  • Radiography
  • Syndrome
  • Turkey