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, cilt.29, ss.360-363, 2019 (ESCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 29 Konu: 5
  • Basım Tarihi: 2019
  • Doi Numarası: 10.4103/ijn.ijn_175_18
  • Dergi Adı: INDIAN JOURNAL OF NEPHROLOGY
  • Sayfa Sayıları: ss.360-363

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).