A Case Report of Celiac Disease with Gitelman Syndrome: A Rare Combination

Abstract

associated with HLA molecule DQ2 subtype. However, it may also be associated with HLA-DQ8 in some cases [1]. Gitelman syndrome usually presents in or beyond adolescence [2]. GS is a rare autosomal recessive disorder which is caused by mutations in the SLC12A3 gene. This gene is responsible for encoding the thiazide sensitive sodium chloride co-transporter which is expressed in the distal convoluted tubule of the kidney and is therefore responsible for the reabsorption of sodium and chloride. As a result of mutation, there is defective reabsorption of these ions leading to hypokalemic metabolic alkalosis [3].