Pediatric Nephrology

, Volume 21, Issue 3, pp 423–426 | Cite as

Clinical and molecular findings in a family with the carbonic anhydrase II deficiency syndrome

  • Danny Lotan
  • Arik Eisenkraft
  • Jeffrey M. Jacobsson
  • Omer Bar-Yosef
  • Robert Kleta
  • Nurit Gal
  • Lisa Raviv-Zilka
  • Hagar Gore
  • Yair Anikster
Brief Report
First Online:
Received:
Revised:
Accepted:

Abstract

Carbonic anhydrase II (CA2) deficiency syndrome is an autosomal recessive disorder leading to osteopetrosis, renal tubular acidosis, and cerebral calcifications. Affected members of an Arab family with the CA2 deficiency syndrome carried the “Egyptian mutation” in CA2, i.e., c.191 del A, H64fsX90. One affected member, homozygote for the mutation, developed primary pulmonary hypertension. Primary pulmonary hypertension was never described before in patients with this unique syndrome. The likelihood of both occurring randomly in a single individual is very low. We therefore speculate that there might be a possibility of an etiologic link between these entities.

Keywords

Carbonic anhydrase II deficiency syndrome  CA2 Growth failure Primary pulmonary hypertension Osteopetrosis Renal tubular acidosis 
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Copyright information

© IPNA 2005

Authors and Affiliations

  • Danny Lotan
    • 1
    • 2
    • 6
  • Arik Eisenkraft
    • 1
  • Jeffrey M. Jacobsson
    • 3
    • 6
  • Omer Bar-Yosef
    • 1
  • Robert Kleta
    • 4
  • Nurit Gal
    • 5
  • Lisa Raviv-Zilka
    • 3
    • 6
  • Hagar Gore
    • 5
  • Yair Anikster
    • 1
    • 5
    • 6
  1. 1.Department of PediatricsThe Edmond and Lily Safra Children’s HospitalTel-HashomerIsrael
  2. 2.Department of Pediatric NephrologyThe Edmond and Lily Safra Children’s HospitalTel-HashomerIsrael
  3. 3.Department of Pediatric RadiologyThe Edmond and Lily Safra Children’s HospitalTel-HashomerIsrael
  4. 4.MGBNational Human Genome Research InstituteBethesdaUSA
  5. 5.Metabolic Disease UnitThe Edmond and Lily Safra Children’s HospitalTel-HashomerIsrael
  6. 6.Sackler School of MedicineTel-Aviv UniversityTel AvivIsrael

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