A novel compound heterozygous KCNJ1 gene mutation presenting as late-onset Bartter syndrome: Case report

RATIONALE: Bartter syndrome is an autosomal-recessive inherited disease in which patients present with hypokalemia and metabolic alkalosis. We present 1 case with Bartter syndrome, due to a novel compound heterozygous mutation in the KCNJ1 gene encoding the ATP-sensitive inward rectifier potassium c...

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Detalles Bibliográficos
Autores principales: Li, Jingyi, Hu, Shoulong, Nie, Yi, Wang, Rongfeng, Tan, Ming, Li, Hongmei, Zhu, Shuanli
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2019
Materias:
5200
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6716717/
https://www.ncbi.nlm.nih.gov/pubmed/31441846
http://dx.doi.org/10.1097/MD.0000000000016738

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6716717/
https://www.ncbi.nlm.nih.gov/pubmed/31441846
http://dx.doi.org/10.1097/MD.0000000000016738

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