Metabolic alkalosis other diagnostic studies: Difference between revisions
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Created page with "__NOTOC__ {{Metabolic alkalosis}} {{CMG}}; {{AE}} ==Overview== There are no other diagnostic studies associated with [disease name]. OR [Diagnostic study] may be helpful i..." |
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__NOTOC__ | __NOTOC__ | ||
{{Metabolic alkalosis}} | {{Metabolic alkalosis}} | ||
{{CMG}}; {{AE}} | {{CMG}}; {{AE}} {{MMT}} | ||
==Overview== | ==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== | ==Other Diagnostic Studies== | ||
* | *Genetic testing for identifying genes involved in the pathogenesis of Metabolic Alkalosis include: | ||
**CFTR for Cystic Fibrosis | |||
**SCNN1A/SCNN1B/SCNN1G<ref name="pmid29534496">{{cite journal |vauthors=Tetti M, Monticone S, Burrello J, Matarazzo P, Veglio F, Pasini B, Jeunemaitre X, Mulatero P |title=Liddle Syndrome: Review of the Literature and Description of a New Case |journal=Int J Mol Sci |volume=19 |issue=3 |pages= |date=March 2018 |pmid=29534496 |pmc=5877673 |doi=10.3390/ijms19030812 |url=}}</ref> for Liddle Syndrome | |||
** | **NKCC2<ref name="pmid8841184">{{cite journal |vauthors=Simon DB, Karet FE, Rodriguez-Soriano J, Hamdan JH, DiPietro A, Trachtman H, Sanjad SA, Lifton RP |title=Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK |journal=Nat Genet |volume=14 |issue=2 |pages=152–6 |date=October 1996 |pmid=8841184 |doi=10.1038/ng1096-152 |url=}}</ref> for Bartter syndrome | ||
** | **SLC12A3/CLCNKB<ref name="pmid21415153">{{cite journal |vauthors=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 |title=Spectrum of mutations in Gitelman syndrome |journal=J Am Soc Nephrol |volume=22 |issue=4 |pages=693–703 |date=April 2011 |pmid=21415153 |pmc=3065225 |doi=10.1681/ASN.2010090907 |url=}}</ref> for Gitelman syndrome | ||
**SLC26A3 <ref name="pmid31145360">{{cite journal |vauthors=Kamal NM, Khan HY, El-Shabrawi MHF, Sherief LM |title=Congenital chloride losing diarrhea: A single center experience in a highly consanguineous population |journal=Medicine (Baltimore) |volume=98 |issue=22 |pages=e15928 |date=May 2019 |pmid=31145360 |pmc=6709049 |doi=10.1097/MD.0000000000015928 |url=}}</ref> for Congenital Chloride Diarrhhea. | |||
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==References== | ==References== | ||
Latest revision as of 05:45, 21 February 2021
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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
|pmc=value (help). PMID 31145360. Vancouver style error: initials (help)