title: [Carbonic anhydrase II deficiency: osteopetrosis, renal tubular acidosis and intracranial calcifications. Review of the literature and 3 cases].
abstract: Three children in two unrelated families are affected by carbonic anhydrase II (CA II) deficiency. This disease has been reported in 27 other patients to date; the study of the pedigrees indicates that it is supported by autosomal recessive inheritance. All the patients have a very high CA I/CA II ratio (greater than 10(4) versus 6 to 10 in controls) and carrier detection is possible in obligate heterozygotes (CA I/CA II = 12 to 17). The clinical presentation consists in renal tubular acidosis, osteopetrosis and cerebral calcifications. The long term follow-up of these patients shows that the prognosis is mainly of neurological and mental expression.
mesh_terms: D000141:Acidosis, Renal Tubular / Q000235:genetics*; D000293:Adolescent; D001827:Body Height; D001927:Brain Diseases / Q000235:genetics*; D002114:Calcinosis / Q000235:genetics*; D002256:Carbonic Anhydrases / Q000172:deficiency*; D003241:Consanguinity; D005260:Female; D005500:Follow-Up Studies; D006720:Homozygote; D006801:Humans; D007223:Infant; D008607:Intellectual Disability; D008297:Male; D010022:Osteopetrosis / Q000235:genetics*; D010375:Pedigree; D011379:Prognosis
chemical_list: D002256:Carbonic Anhydrases
vernacular_title: Déficit en anhydrase carbonique II: ostéopétrose, acidose rénale tubulaire et calcifications intrâcraniennes. Revue de la littérature à partir de trois observations.