title: Cerebral calcification, osteopetrosis and renal tubular acidosis: is it carbonic anhydrase-II deficiency?
abstract: Carbonic anhydrase-II deficiency is an autosomal recessive disorder with a triad of cerebral calcification, osteopetrosis and renal tubular acidosis (often combined proximal and distal). Mental retardation, growth failure, complications of osteopetrosis and other features were all recorded in this syndrome. We present a case of an Iraqi male with all these features and a positive family history.
authors: Department of Nephrology, Baghdad Teaching Hospital, The Medical City Complex, Baghdad, Iraq. ala1975@gmail.com
authors: Ala A
authors: AA
authors: Sh Ali
authors: Sarmad A
authors: SA
authors: Al-Mashta
mesh_terms: D000141:Acidosis, Renal Tubular / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics / Q000628:therapy; D000328:Adult; D001927:Brain Diseases / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics / Q000628:therapy; D002114:Calcinosis / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics / Q000628:therapy; D002256:Carbonic Anhydrases / Q000172:deficiency / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006130:Growth Disorders / Q000175:diagnosis; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis; D008297:Male; D010022:Osteopetrosis / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics / Q000628:therapy; D010641:Phenotype; D011237:Predictive Value of Tests; D011379:Prognosis; D013577:Syndrome; D014057:Tomography, X-Ray Computed; D056806:Urea Cycle Disorders, Inborn / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics / Q000628:therapy
chemical_list: D002256:Carbonic Anhydrases