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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...
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| Publicado no: | Medicine (Baltimore) |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Wolters Kluwer Health
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6716717/ https://ncbi.nlm.nih.gov/pubmed/31441846 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MD.0000000000016738 |
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