Open AccessAntenatal bartter syndrome caused by a novel homozygous mutation in SLC12A1 Gene
Author(s) -
Filiz Aktürk Acar,
Güneş Işık,
Mehmet Mutlu,
Şebnem Kader,
Yakup Aslan,
Mukaddes Kalyoncu
Publication year - 2019
Publication title -
indian journal of nephrology/indian journal of nephrology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.317
H-Index - 24
eISSN - 1998-3662
pISSN - 0971-4065
DOI - 10.4103/ijn.ijn_175_18
Subject(s) - medicine , hypercalciuria , bartter syndrome , polyuria , hyponatremia , metabolic alkalosis , endocrinology , hypokalemia , mutation , gene mutation , pediatrics , gene , urinary system , genetics , biology , diabetes mellitus
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) .