Antenatal Bartter Syndrome Caused by a Novel Homozygous Mutation in <i>SLC12A1</i> <i>Gene</i>
INDIAN JOURNAL OF NEPHROLOGY, sa.5, ss.360-363, 2019 (ESCI, Scopus)
- Yayın Türü: Makale / Tam Makale
- Basım Tarihi: 2019
- Doi Numarası: 10.4103/ijn.ijn_175_18
- Dergi Adı: INDIAN JOURNAL OF NEPHROLOGY
- Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus
- Sayfa Sayıları: ss.360-363
- Karadeniz Teknik Üniversitesi Adresli: Evet
Özet
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).