Bartter syndrome epidemiology and demographics
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- The prevalence of Barter Syndrome is approximately 1 in 1,000,000 individuals.[1]
- Barter syndrome is a result of mutations that disable the function of NA-K-Cl channels. This condition leads to prenatal or neonatal death before it can be diagnosed and therefore has a lower prevalence.[1]
References
- ↑ 1.0 1.1 Ji W, Foo JN, O'Roak BJ, Zhao H, Larson MG, Simon DB; et al. (2008). "Rare independent mutations in renal salt handling genes contribute to blood pressure variation". Nat Genet. 40 (5): 592–599. doi:10.1038/ng.118. PMC 3766631. PMID 18391953.