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Pediatr Nephrol. 2006 Mar;21(3):423-6. Epub 2005 Dec 29.

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

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1
Department of Pediatrics, The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel.

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.

PMID:
16382316
DOI:
10.1007/s00467-005-2125-0
[Indexed for MEDLINE]
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