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


Acar F. A. , Isik G., MUTLU M., KADER Ş., ASLAN Y., KALYONCU M.

INDIAN JOURNAL OF NEPHROLOGY, vol.29, no.5, pp.360-363, 2019 (Peer-Reviewed Journal) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 29 Issue: 5
  • Publication Date: 2019
  • Doi Number: 10.4103/ijn.ijn_175_18
  • Journal Name: INDIAN JOURNAL OF NEPHROLOGY
  • Journal Indexes: Emerging Sources Citation Index, Scopus
  • Page Numbers: pp.360-363

Abstract

Antenatal Butter 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).