Title of article
Cerebral calcification, osteopetrosis and renal tubular acidosis: is it carbonic anhydrase-II deficiency?
Author/Authors
Ali, Ala A. Sh. Medical City Complex - Baghdad Teaching Hospital - Department of Nephrology, Dialysis and Renal Transplantation, Iraq , Al-Mashta, Sarmad A. Medical City Complex - Baghdad Teaching Hospital - Department of Nephrology, Dialysis and Renal Transplantation, Iraq
From page
561
To page
565
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.
Journal title
Saudi Journal of Kidney Diseases and Transplantation
Journal title
Saudi Journal of Kidney Diseases and Transplantation
Record number
2677448
Link To Document