Kidney chloride channel B
Chloride channel B is located in the thick ascending loop of Henle. Functional defects in this ion channel result in classic Bartter syndrome.
Epidemiology
Although exact data are not available, mutation in this gene are thought to occur 1 in 50,000-100,000 newborn.
Genetests:
Related Diseases:
References:
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None (2001) Inherited primary renal tubular hypokalemic alkalosis: a review of Gitelman and Bartter syndromes.
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2. |
Bettinelli A et al. (2005) Simultaneous mutations in the CLCNKB and SLC12A3 genes in two siblings with phenotypic heterogeneity in classic Bartter syndrome.
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3. |
Tajima T et al. (2006) Molecular analysis of the CLCNKB gene in Japanese patients with classic Bartter syndrome.
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4. |
Orphanet article
Orphanet ID 119467
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5. |
NCBI article
NCBI 1188
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6. |
OMIM.ORG article
Omim 602023
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7. |
Wikipedia article
Wikipedia EN (CLCNKB)
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Update: Aug. 14, 2020