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Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.

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Metabolic alkalosis other diagnostic studies

Introduction

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[1] for Liddle Syndrome
    • NKCC2[2] for Bartter syndrome
    • SLC12A3/CLCNKB[3] for Gitelman syndrome
    • SLC26A3 [4] for Congenital Chloride Diarrhhea.
References

References

  1. ↑ 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.
  2. ↑ 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.
  3. ↑ 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.
  4. ↑ 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)

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Marufa Marium, M.B.B.S[2]