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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...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Wolters Kluwer Health
2019
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| Materias: | |
| 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 |