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Two novel mutations in the CLCNKB gene leading to classic Bartter syndrome presenting as syncope and hypertension in a 13-year-old boy
Classic Bartter syndrome is a rare condition caused by mutations in the CLCNKB gene and characterised by metabolic alkalosis, hypokalaemia, hyper-reninaemia and hyperaldosteronism. Early signs and symptoms usually occur before a child’s sixth birthday and include polyuria and developmental delay. We...
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| Publicado no: | BMJ Case Rep |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Publishing Group
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7341725/ https://ncbi.nlm.nih.gov/pubmed/32624484 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2019-233872 |
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