Novel SLC12A1 mutations cause Bartter syndrome in two patients with different prognoses.
Yi S, Li M, Yang Q, Zhang X, Chen F, Qin Z, Yi S, Huang L, Wei H, Zhang Q, Luo J.
Yi S, et al.
Clin Chim Acta. 2022 Jun 1;531:120-125. doi: 10.1016/j.cca.2022.03.025. Epub 2022 Mar 28.
Clin Chim Acta. 2022.
PMID: 35358470
Review.
BACKGROUND: Bartter syndrome is an inherited renal tubular disorder that is characterized by hypokalemic, hypochloremic metabolic alkalosis in which the primary defect is a deficiency of transporters involved in sodium chloride reabsorption. ...Both pa …
BACKGROUND: Bartter syndrome is an inherited renal tubular disorder that is characterized by hypokalemic, hypochloremic met …