Open AccessCarbonic Anhydrase II Deficiency in a Saudi Woman
Author(s) -
Omar N. Alhuzaim,
Ohoud Almohareb,
Safiya M. Sherbeeni
Publication year - 2015
Publication title -
clinical medicine insights case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.187
H-Index - 12
ISSN - 1179-5476
DOI - 10.4137/ccrep.s16897
Subject(s) - osteopetrosis , medicine , renal tubular acidosis , hypokalemia , pediatrics , nephrocalcinosis , endocrinology , gastroenterology , pathology , kidney , acidosis
Carbonic anhydrase (CA) II deficiency is a rare autosomal recessive disorder caused by mutation in the CA II gene that leads to osteopetrosis, renal tubular acidosis (RTA), and cerebral calcification. Our aim is to present a patient with the classic triad of CA II deficiency syndrome to enhance the awareness about this rare syndrome.
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