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

Filiz Aktürk Acar, Güneş Işik, Mehmet Mutlu, Şebnem Kader, Yakup Aslan, Mukaddes KalyoncuIndian Journal of Nephrology 2019 29(5):360-363 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).
Source: Indian Journal of Nephrology - Category: Urology & Nephrology Authors: Source Type: research