Bartter syndrome epidemiology and demographics: Difference between revisions
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==Overview== | ==Overview== | ||
The prevalence of Barter Syndrome is approximately 1 in 1,000,000 individuals. The annual incidence of the syndrome has been estimated at 1.2 per million people. According to a review of twenty-eight patients with Bartter | The [[prevalence]] of [[Barter Syndrome]] is approximately 1 in 1,000,000 individuals. The annual [[incidence]] of the syndrome has been estimated at 1.2 per million people. According to a review of twenty-eight patients with [[Bartter syndrome]] during the years 1964-1986 who were followed for an average of 10 years, their mean age at the time of diagnosis was 32.9 years. These patients were observed to have short stature than normal subjects. | ||
==Epidemiology and Demographics== | ==Epidemiology and Demographics== | ||
===Prevalence=== | ===Prevalence=== | ||
*The prevalence of Barter | *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> | ||
* | *[[Bartter 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> | ||
===Incidence=== | ===Incidence=== | ||
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===Age=== | ===Age=== | ||
*According to a review of twenty-eight patients with Bartter | *According to a review of twenty-eight patients with [[Bartter syndrome]] during the years 1964-1986 who were followed for an average of 10 years, their mean age at the time of diagnosis was 32.9 years. These patients were observed to have short stature than normal subjects.<ref name="pmid3421146">{{cite journal| author=Rudin A| title=Bartter's syndrome. A review of 28 patients followed for 10 years. | journal=Acta Med Scand | year= 1988 | volume= 224 | issue= 2 | pages= 165-71 | pmid=3421146 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3421146 }} </ref> | ||
==References== | ==References== | ||
Latest revision as of 20:04, 5 August 2020
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Main article: Bartter syndrome
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Tayyaba Ali, M.D.[2]
Overview
The prevalence of Barter Syndrome is approximately 1 in 1,000,000 individuals. The annual incidence of the syndrome has been estimated at 1.2 per million people. According to a review of twenty-eight patients with Bartter syndrome during the years 1964-1986 who were followed for an average of 10 years, their mean age at the time of diagnosis was 32.9 years. These patients were observed to have short stature than normal subjects.
Epidemiology and Demographics
Prevalence
- The prevalence of Barter syndrome is approximately 1 in 1,000,000 individuals.[1]
- Bartter 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]
Incidence
- The annual incidence of the syndrome has been estimated at 1.2 per million people.[2]
Age
- According to a review of twenty-eight patients with Bartter syndrome during the years 1964-1986 who were followed for an average of 10 years, their mean age at the time of diagnosis was 32.9 years. These patients were observed to have short stature than normal subjects.[2]
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.
- ↑ 2.0 2.1 Rudin A (1988). "Bartter's syndrome. A review of 28 patients followed for 10 years". Acta Med Scand. 224 (2): 165–71. PMID 3421146.