Open AccessAFGHAN MUTATION OF CA-II GENE
Author(s) -
Anila Faisal,
Amarah Kiani,
Ahsen Farooq
Publication year - 2016
Publication title -
the professional medical journal/the professional medical journal
Language(s) - English
Resource type - Journals
eISSN - 2071-7733
pISSN - 1024-8919
DOI - 10.29309/tpmj/2016.23.06.1632
Subject(s) - osteopetrosis , renal tubular acidosis , medicine , calcification , mutation , carbonic anhydrase ii , gene , pathology , endocrinology , acidosis , genetics , carbonic anhydrase , biochemistry , biology , enzyme
Carbonic anhydrase-II deficiency is an autosomal recessive disorder groundedon a triad of cerebral calcification, osteopetrosis and renal tubular acidosis away in whichproximal tubules, distal collecting ducts or combined.1 Other features include growth andmental retardation along with the complications of osteopetrosis.2 The only treatment to curethe calcification is allogeneic bone marrow stem cell replacement; however it does not have anyconsiderable effect on the renal lesions3 We report a case of a 3 week old male child of Afghanorigin with all these features who was clinically diagnosed as having carbonic anhydrase type IIdeficiency however unfortunately the baby passed during cranioplasty and genetic testing forenzyme deficiency could not be done. Our aim to present this case of a male child of Afghanorigin is to enhance the awareness about this rare syndrome in our medical community andinviting further research for a possible Afghan mutation of CA-II gene.