A mosaic mutation in the CLCNKB gene causing Bartter syndrome: A case report

• Hauptverfasser: Lan Zhou (Verfasst von), Xiaohui Chen (Verfasst von), Jiaojiao Xiong (Verfasst von), Ling Lei (Verfasst von)
• Format: Buch
• Veröffentlicht: Frontiers Media S.A., 2023-04-01T00:00:00Z.
• Schlagworte: article
• Online-Zugang: Connect to this object online.

BackgroundType III Bartter syndrome (BS) is an autosomal recessive disease caused by mutations in the CLCNKB (chloride voltage-gated channel Kb) gene that encodes CLC-Kb. CLC-Kb is mainly located in the thick ascending limb of Henle's loop and regulates chloride efflux from tubular epithelial ce...