HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

[Osteopetrosis with carbonic anhydrase II deficiency: report of 24 cases].

Abstract
Twenty four patients suffering from osteopetrosis caused by carbonic anhydrase II deficiency are colliged. This pathology seems to be frequent in Tunisia. Mental retardation is present in 52%, 85% of patients have short stature and 25% have optic atrophy. All affected subjects show craniofacial disproportion and dental anomalies. Twenty patients have at least one bone fracture. Metabolic acidosis is constant: it is profound during the first life decade. A severe selective reduction of carbonic anhydrase II in erythrocyte is confirmed in 18 cases. Osteosclerosis and defective skeletal modelling are constant, cerebral calcification can be seen at the scanner approximately at the age of two years and six months. All patients are homozygous for a splice junction mutation in intron 2 of the carbonic anhydrase II gene, this mutation does not seem to protect patients from bone fractures nor induce a severe metabolic acidosis.
AuthorsHalioui-Louhaichi Sonia, Fraj Mohamed, Bejaoui Mohamed, Alouini Rafika, Fathallah Dehmani, Dallagi Kossay, Hammou Azza
JournalLa Tunisie medicale (Tunis Med) Vol. 83 Issue 7 Pg. 409-13 (Jul 2005) ISSN: 0041-4131 [Print] Tunisia
Vernacular TitleL'osteopetrose par deficit en anhydrase carbonique II: a propos de 24 observations.
PMID16220698 (Publication Type: English Abstract, Journal Article)
Chemical References
  • Carbonic Anhydrase II
Topics
  • Adolescent
  • Carbonic Anhydrase II (deficiency, genetics)
  • Child
  • Child, Preschool
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Introns
  • Male
  • Mutation
  • Osteopetrosis (etiology, genetics)
  • Tunisia

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research graph!


Choose Username:
Email:
Password:
Verify Password:
Enter Code Shown: