Antenatal Bartter Syndrome Caused by a Novel Homozygous Mutation in SLC12A1 Gene

Antenatal Bartter syndrome (BS) is an autosomal recessive hereditary renal tubular disorder caused by mutation in the solute carrier family 12 member 1 (SLC12A1) gene on chromosome 15q21.1. This syndrome is characterized by polyuria, hyponatremia, hypokalemic hypochloremic metabolic alkalosis, and h...

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Autores principales: Acar, Filiz Aktürk, Işik, Güneş, Mutlu, Mehmet, Kader, Şebnem, Aslan, Yakup, Kalyoncu, Mukaddes
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6755923/
https://www.ncbi.nlm.nih.gov/pubmed/31571745
http://dx.doi.org/10.4103/ijn.IJN_175_18
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author Acar, Filiz Aktürk
Işik, Güneş
Mutlu, Mehmet
Kader, Şebnem
Aslan, Yakup
Kalyoncu, Mukaddes
author_facet Acar, Filiz Aktürk
Işik, Güneş
Mutlu, Mehmet
Kader, Şebnem
Aslan, Yakup
Kalyoncu, Mukaddes
author_sort Acar, Filiz Aktürk
collection PubMed
description Antenatal Bartter syndrome (BS) is an autosomal recessive hereditary renal tubular disorder caused by mutation in the solute carrier family 12 member 1 (SLC12A1) gene on chromosome 15q21.1. This syndrome is characterized by polyuria, hyponatremia, hypokalemic hypochloremic metabolic alkalosis, and hypercalciuria associated with increased urinary loss of electrolytes. Herein, we report a very low-birth-weight premature newborn with antenatal BS caused by a novel homozygous mutation in the SLC12A1 gene, c.596G>A (p.R199H).
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spelling pubmed-67559232019-09-30 Antenatal Bartter Syndrome Caused by a Novel Homozygous Mutation in SLC12A1 Gene Acar, Filiz Aktürk Işik, Güneş Mutlu, Mehmet Kader, Şebnem Aslan, Yakup Kalyoncu, Mukaddes Indian J Nephrol Case Report Antenatal Bartter syndrome (BS) is an autosomal recessive hereditary renal tubular disorder caused by mutation in the solute carrier family 12 member 1 (SLC12A1) gene on chromosome 15q21.1. This syndrome is characterized by polyuria, hyponatremia, hypokalemic hypochloremic metabolic alkalosis, and hypercalciuria associated with increased urinary loss of electrolytes. Herein, we report a very low-birth-weight premature newborn with antenatal BS caused by a novel homozygous mutation in the SLC12A1 gene, c.596G>A (p.R199H). Wolters Kluwer - Medknow 2019 /pmc/articles/PMC6755923/ /pubmed/31571745 http://dx.doi.org/10.4103/ijn.IJN_175_18 Text en Copyright: © 2019 Indian Journal of Nephrology http://creativecommons.org/licenses/by-nc-sa/4.0 This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms.
spellingShingle Case Report
Acar, Filiz Aktürk
Işik, Güneş
Mutlu, Mehmet
Kader, Şebnem
Aslan, Yakup
Kalyoncu, Mukaddes
Antenatal Bartter Syndrome Caused by a Novel Homozygous Mutation in SLC12A1 Gene
title Antenatal Bartter Syndrome Caused by a Novel Homozygous Mutation in SLC12A1 Gene
title_full Antenatal Bartter Syndrome Caused by a Novel Homozygous Mutation in SLC12A1 Gene
title_fullStr Antenatal Bartter Syndrome Caused by a Novel Homozygous Mutation in SLC12A1 Gene
title_full_unstemmed Antenatal Bartter Syndrome Caused by a Novel Homozygous Mutation in SLC12A1 Gene
title_short Antenatal Bartter Syndrome Caused by a Novel Homozygous Mutation in SLC12A1 Gene
title_sort antenatal bartter syndrome caused by a novel homozygous mutation in slc12a1 gene
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6755923/
https://www.ncbi.nlm.nih.gov/pubmed/31571745
http://dx.doi.org/10.4103/ijn.IJN_175_18
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