Cerebral calcification, osteopetrosis and renal tubular acidosis: is it carbonic anhydrase-II deficiency?

Cerebral calcification, osteopetrosis and renal tubular acidosis: is it carbonic anhydrase-II deficiency?

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 s...

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Main Authors: Ala A Sh. Ali, Sarmad A Al-Mashta
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2013-01-01
Series:Saudi Journal of Kidney Diseases and Transplantation
Online Access:http://www.sjkdt.org/article.asp?issn=1319-2442;year=2013;volume=24;issue=3;spage=561;epage=565;aulast=Sh.
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spelling doaj-f58858b394a444928da0a32e31b64bb32020-11-24T22:06:30ZengWolters Kluwer Medknow PublicationsSaudi Journal of Kidney Diseases and Transplantation1319-24422013-01-0124356156510.4103/1319-2442.111067Cerebral calcification, osteopetrosis and renal tubular acidosis: is it carbonic anhydrase-II deficiency?Ala A Sh. AliSarmad A Al-MashtaCarbonic 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.http://www.sjkdt.org/article.asp?issn=1319-2442;year=2013;volume=24;issue=3;spage=561;epage=565;aulast=Sh.
collection DOAJ
language English
format Article
sources DOAJ
author Ala A Sh. Ali
Sarmad A Al-Mashta
spellingShingle Ala A Sh. Ali
Sarmad A Al-Mashta
Cerebral calcification, osteopetrosis and renal tubular acidosis: is it carbonic anhydrase-II deficiency?
Saudi Journal of Kidney Diseases and Transplantation
author_facet Ala A Sh. Ali
Sarmad A Al-Mashta
author_sort Ala A Sh. Ali
title Cerebral calcification, osteopetrosis and renal tubular acidosis: is it carbonic anhydrase-II deficiency?
title_short Cerebral calcification, osteopetrosis and renal tubular acidosis: is it carbonic anhydrase-II deficiency?
title_full Cerebral calcification, osteopetrosis and renal tubular acidosis: is it carbonic anhydrase-II deficiency?
title_fullStr Cerebral calcification, osteopetrosis and renal tubular acidosis: is it carbonic anhydrase-II deficiency?
title_full_unstemmed Cerebral calcification, osteopetrosis and renal tubular acidosis: is it carbonic anhydrase-II deficiency?
title_sort cerebral calcification, osteopetrosis and renal tubular acidosis: is it carbonic anhydrase-ii deficiency?
publisher Wolters Kluwer Medknow Publications
series Saudi Journal of Kidney Diseases and Transplantation
issn 1319-2442
publishDate 2013-01-01
description 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.
url http://www.sjkdt.org/article.asp?issn=1319-2442;year=2013;volume=24;issue=3;spage=561;epage=565;aulast=Sh.
work_keys_str_mv AT alaashali cerebralcalcificationosteopetrosisandrenaltubularacidosisisitcarbonicanhydraseiideficiency
AT sarmadaalmashta cerebralcalcificationosteopetrosisandrenaltubularacidosisisitcarbonicanhydraseiideficiency
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