Genetic diagnosis of Bartter syndrome in Iranian patients and detection of a novel homozygous CLCNKB mutation

An Iranian girl with clinical symptoms of Bartter syndrome like hypokalemia, polyuria, polydipsia, hyponatremia, and hypochloremic alkalosis was referred to us in whom the CLCNKB gene was genetically evaluated using Sanger sequencing. A homozygous pathogenic variant of c.1332_1335delCTCT was detecte...

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Autores principales: Nojehdeh, Somayeh Takrim, Mojbafan, Marzieh, Hooman, Nakysa, Hoseini, Rozita, Otukesh, Hasan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9734084/
https://www.ncbi.nlm.nih.gov/pubmed/36514463
http://dx.doi.org/10.1002/ccr3.6698
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author Nojehdeh, Somayeh Takrim
Mojbafan, Marzieh
Hooman, Nakysa
Hoseini, Rozita
Otukesh, Hasan
author_facet Nojehdeh, Somayeh Takrim
Mojbafan, Marzieh
Hooman, Nakysa
Hoseini, Rozita
Otukesh, Hasan
author_sort Nojehdeh, Somayeh Takrim
collection PubMed
description An Iranian girl with clinical symptoms of Bartter syndrome like hypokalemia, polyuria, polydipsia, hyponatremia, and hypochloremic alkalosis was referred to us in whom the CLCNKB gene was genetically evaluated using Sanger sequencing. A homozygous pathogenic variant of c.1332_1335delCTCT was detected in this patient.
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spelling pubmed-97340842022-12-12 Genetic diagnosis of Bartter syndrome in Iranian patients and detection of a novel homozygous CLCNKB mutation Nojehdeh, Somayeh Takrim Mojbafan, Marzieh Hooman, Nakysa Hoseini, Rozita Otukesh, Hasan Clin Case Rep Case Report An Iranian girl with clinical symptoms of Bartter syndrome like hypokalemia, polyuria, polydipsia, hyponatremia, and hypochloremic alkalosis was referred to us in whom the CLCNKB gene was genetically evaluated using Sanger sequencing. A homozygous pathogenic variant of c.1332_1335delCTCT was detected in this patient. John Wiley and Sons Inc. 2022-12-09 /pmc/articles/PMC9734084/ /pubmed/36514463 http://dx.doi.org/10.1002/ccr3.6698 Text en © 2022 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Report
Nojehdeh, Somayeh Takrim
Mojbafan, Marzieh
Hooman, Nakysa
Hoseini, Rozita
Otukesh, Hasan
Genetic diagnosis of Bartter syndrome in Iranian patients and detection of a novel homozygous CLCNKB mutation
title Genetic diagnosis of Bartter syndrome in Iranian patients and detection of a novel homozygous CLCNKB mutation
title_full Genetic diagnosis of Bartter syndrome in Iranian patients and detection of a novel homozygous CLCNKB mutation
title_fullStr Genetic diagnosis of Bartter syndrome in Iranian patients and detection of a novel homozygous CLCNKB mutation
title_full_unstemmed Genetic diagnosis of Bartter syndrome in Iranian patients and detection of a novel homozygous CLCNKB mutation
title_short Genetic diagnosis of Bartter syndrome in Iranian patients and detection of a novel homozygous CLCNKB mutation
title_sort genetic diagnosis of bartter syndrome in iranian patients and detection of a novel homozygous clcnkb mutation
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9734084/
https://www.ncbi.nlm.nih.gov/pubmed/36514463
http://dx.doi.org/10.1002/ccr3.6698
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