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CASE REPORT
Ahead of Print

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


1 Division of Neonatology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey
2 Department of Pediatric Nephrology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey
3 Department of Pediatric Nephrology and Rheumatology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey

Correspondence Address:
Filiz Aktürk Acar,
Division of Neonatology, Departments of Pediatrics, Faculty of Medicine, Karadeniz Technical University, Trabzon
Turkey
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijn.IJN_175_18

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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Indian Journal of Nephrology
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