Genetic Considerations

Several genetic diseases can result in low blood chloride levels. These include cystic fibrosis. Bartter syndrome is a group of several disorders of impaired salt reabsorption in the thick ascending loop of Henle, hypochloremia, hypokalemic metabolic alkalosis, and hypercalciuria. Several genes have been associated with Bartter syndrome (butmetanide-sensitive Na-K-2Cl cotransporter BSND gene simultaneous mutation in both the CLCNKA and the CLCNKB genes and the thiazide-sensitive sodium-chloride cotransporter SLC12A3). Congenital adrenal hyper-plasia is a heritable disorder of adrenal corticosteroid synthesis that is transmitted in autosomal recessive disorder; it too can result in hypochloremia.

0 0

Post a comment