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Carbonic anhydrase II deficiency.

Michael P Whyte1

  • 1Division of Bone and Mineral Diseases, Department of Internal Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA; Shriners Hospitals for Children-St. Louis, St. Louis, MO 63110, USA.

Bone
|January 29, 2023
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Summary

Carbonic anhydrase II deficiency causes osteopetrosis, renal tubular acidosis, and cerebral calcification due to CA II enzyme dysfunction. This genetic disorder impacts bone resorption, kidney function, and neurological development.

Keywords:
AcidosisAutosomal recessive inheritanceBasal ganglia calcificationBone remodelingBone resorptionBrittle bone diseaseCarbonic acidCarbonic anhydraseCerebral calcificationDense bone diseaseEndochondral bone formationErlenmeyer flask deformityFracturingHyperostosisMarrow cell transplantationMental retardationMetabolic bone diseaseOsteoclastOsteopetrosisOsteosclerosisRaine syndromeRenal tubular acidosis

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Area of Science:

  • Genetics and Molecular Biology
  • Biochemistry
  • Pediatrics

Background:

  • Carbonic anhydrase II (CA II) deficiency, also known as osteopetrosis with renal tubular acidosis and cerebral calcification syndrome, is a rare genetic disorder.
  • It affects over 100 individuals, primarily from the Middle East and Mediterranean regions, impacting osteoclast and renal tubule function.
  • CA II deficiency is a metabolic and molecularly understood form of osteopetrosis, characterized by impaired osteoclast bone resorption.

Purpose of the Study:

  • To elucidate the critical role of carbonic anhydrase II (CA II) in osteoclast and renal tubule function.
  • To describe the clinical manifestations, etiology, and diagnostic approaches for CA II deficiency.
  • To highlight the unique combination of osteopetrosis, renal tubular acidosis, and cerebral calcification in this condition.

Main Methods:

  • Review of clinical cases and genetic analyses of individuals with CA II deficiency.
  • Analysis of the molecular basis of CA II deficiency, focusing on mutations in the CA2 gene.
  • Examination of mouse models to understand the pathogenesis of associated symptoms.

Main Results:

  • CA II deficiency results in osteopetrosis due to osteoclasts' inability to acidify their environment, leading to bone resorption failure.
  • Affected individuals present with fractures, developmental delay, short stature, cranial nerve issues, and mental retardation.
  • The disorder is uniquely associated with renal tubular acidosis (RTA) and cerebral calcification, with prenatal diagnosis possible through mutational analysis of CA2.

Conclusions:

  • CA II is essential for skeletal integrity and kidney tubule function.
  • While skeletal findings may improve, RTA and central nervous system issues persist, indicating the complexity of the disease.
  • Further research is needed to understand the pathogenesis of mental subnormality and cerebral calcification and to develop effective therapies.