Antenatal bartter syndrome caused by a novel homozygous mutation in SLC12A1 Gene

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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Bibliographic Details
Main Authors: Filiz Aktürk Acar, Güneş Işik, Mehmet Mutlu, Şebnem Kader, Yakup Aslan, Mukaddes Kalyoncu
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2019-01-01
Series:Indian Journal of Nephrology
Subjects:
Antenatal Bartter syndrome
mutation
SLC12A1 gene
Online Access:http://www.indianjnephrol.org/article.asp?issn=0971-4065;year=2019;volume=29;issue=5;spage=360;epage=363;aulast=Acar
Description
Summary: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).
ISSN:0971-4065
1998-3662

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