Metabolic alkalosis other diagnostic studies
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Marufa Marium, M.B.B.S[2]
Overview
- Genetic testing for identifying genes involved in the pathogenesis of Metabolic Alkalosis include CFTR, SCNN1A/SCNN1B/SCNN1G, NKCC2;, SLC12A3/CLCNKB, SLC26A3 causing Cystic Fibrosis, Liddle Syndrome, Bartter syndrome, Gitelman syndrome and Congenital Chloride Diarrhhea respectively.
Other Diagnostic Studies
- Genetic testing for identifying genes involved in the pathogenesis of Metabolic Alkalosis include:
References
- ↑ Tetti M, Monticone S, Burrello J, Matarazzo P, Veglio F, Pasini B, Jeunemaitre X, Mulatero P (March 2018). "Liddle Syndrome: Review of the Literature and Description of a New Case". Int J Mol Sci. 19 (3). doi:10.3390/ijms19030812. PMC 5877673. PMID 29534496.
- ↑ Simon DB, Karet FE, Rodriguez-Soriano J, Hamdan JH, DiPietro A, Trachtman H, Sanjad SA, Lifton RP (October 1996). "Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK". Nat Genet. 14 (2): 152–6. doi:10.1038/ng1096-152. PMID 8841184.
- ↑ Vargas-Poussou R, Dahan K, Kahila D, Venisse A, Riveira-Munoz E, Debaix H, Grisart B, Bridoux F, Unwin R, Moulin B, Haymann JP, Vantyghem MC, Rigothier C, Dussol B, Godin M, Nivet H, Dubourg L, Tack I, Gimenez-Roqueplo AP, Houillier P, Blanchard A, Devuyst O, Jeunemaitre X (April 2011). "Spectrum of mutations in Gitelman syndrome". J Am Soc Nephrol. 22 (4): 693–703. doi:10.1681/ASN.2010090907. PMC 3065225. PMID 21415153.
- ↑ Kamal NM, Khan HY, El-Shabrawi M, Sherief LM (May 2019). "Congenital chloride losing diarrhea: A single center experience in a highly consanguineous population". Medicine (Baltimore). 98 (22): e15928. doi:10.1097/MD.0000000000015928. PMC 6709049 Check
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