Antenatal bartter syndrome caused by a novel homozygous mutation in SLC12A1 Gene
Indian Journal of Nephrology, cilt.29, sa.5, ss.360-363, 2019 (Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 29 Sayı: 5
- Basım Tarihi: 2019
- Doi Numarası: 10.4103/ijn.ijn_175_18
- Dergi Adı: Indian Journal of Nephrology
- Derginin Tarandığı İndeksler: Scopus
- Sayfa Sayıları: ss.360-363
- Anahtar Kelimeler: Antenatal Bartter syndrome, mutation, SLC12A1 gene
- Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
- Sivas Cumhuriyet Üniversitesi Adresli: Hayır
Özet
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).