Late-Onset Bartter Syndrome Type II Due to a Novel Compound Heterozygous Mutation in KCNJ1 Gene: A Case Report and Literature Review

BACKGROUND: Bartter syndrome (BS) type II is a rare autosomal recessive renal tubular disorder caused by mutations in the KCNJ1 gene, which encodes the apical renal outer medullary potassium (ROMK) channel in the thick ascending limb (TAL) of Henle’s loop. BS type II is typically considered as a dis...

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Detalles Bibliográficos
Autores principales: Tian, Mi, Peng, Hui, Bi, Xin, Wang, Yan-Qiu, Zhang, Yong-Zhe, Wu, Yan, Zhang, Bei-Ru
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9021870/
https://www.ncbi.nlm.nih.gov/pubmed/35463019
http://dx.doi.org/10.3389/fmed.2022.862514

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9021870/
https://www.ncbi.nlm.nih.gov/pubmed/35463019
http://dx.doi.org/10.3389/fmed.2022.862514

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