Bartter syndrome epidemiology and demographics: Difference between revisions
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{{Bartter syndrome}} | {{Bartter syndrome}} | ||
The prevalence of Barter Syndrome is approximately 1 in 1,000,000 individuals.<ref name="pmid18391953">{{cite journal| author=Ji W, Foo JN, O'Roak BJ, Zhao H, Larson MG, Simon DB | display-authors=etal| title=Rare independent mutations in renal salt handling genes contribute to blood pressure variation. | journal=Nat Genet | year= 2008 | volume= 40 | issue= 5 | pages= 592-599 | pmid=18391953 | doi=10.1038/ng.118 | pmc=3766631 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18391953 }} </ref> | *The prevalence of Barter Syndrome is approximately 1 in 1,000,000 individuals.<ref name="pmid18391953">{{cite journal| author=Ji W, Foo JN, O'Roak BJ, Zhao H, Larson MG, Simon DB | display-authors=etal| title=Rare independent mutations in renal salt handling genes contribute to blood pressure variation. | journal=Nat Genet | year= 2008 | volume= 40 | issue= 5 | pages= 592-599 | pmid=18391953 | doi=10.1038/ng.118 | pmc=3766631 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18391953 }} </ref> | ||
*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.<ref name="pmid18391953">{{cite journal| author=Ji W, Foo JN, O'Roak BJ, Zhao H, Larson MG, Simon DB | display-authors=etal| title=Rare independent mutations in renal salt handling genes contribute to blood pressure variation. | journal=Nat Genet | year= 2008 | volume= 40 | issue= 5 | pages= 592-599 | pmid=18391953 | doi=10.1038/ng.118 | pmc=3766631 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18391953 }} </ref> | |||
==References== | ==References== | ||
Revision as of 18:50, 28 July 2020
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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.