Ontology highlight
ABSTRACT:
SUBMITTER: Cunha TDS
PROVIDER: S-EPMC6233707 | biostudies-literature | 2018
REPOSITORIES: biostudies-literature
Cunha Tamara da Silva TDS Heilberg Ita Pfeferman IP
International journal of nephrology and renovascular disease 20181109
Bartter syndrome is an inherited renal tubular disorder caused by a defective salt reabsorption in the thick ascending limb of loop of Henle, resulting in salt wasting, hypokalemia, and metabolic alkalosis. Mutations of several genes encoding the transporters and channels involved in salt reabsorption in the thick ascending limb cause different types of Bartter syndrome. A poor phenotype-genotype relationship due to the interaction with other cotransporters and different degrees of compensation ...[more]