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Antenatal Bartter syndrome: a new compound heterozygous mutation in exon 2 of KCNJ1 gene
  1. Srinivasan Mani,
  2. Jayasree Nair and
  3. Deepali Handa
  1. Pediatrics, University at Buffalo Jacobs School of Medicine and Biomedical Sciences, Buffalo, New York, USA
  1. Correspondence to Dr Srinivasan Mani; drvazan{at}gmail.com

Abstract

A 30+6/7-week infant was born by vaginal delivery to a 21-year-old primigravida with pregnancy complicated by polyhydramnios. The infant developed polyuria and significant weight loss in the first 2 weeks of life despite appropriate fluid management. He developed hyponatraemia, hypochloraemia, transient hyperkalaemia and prerenal azotaemia with metabolic acidosis. On further evaluation, he had elevated plasma renin and aldosterone levels. Bartter syndrome was considered in the differential diagnosis. Bartter syndrome gene panel revealed a rare compound heterozygous mutation in exon 2 of the KCNJ1 gene (Lys186Glu/Thr71Met), suggesting antenatal Bartter syndrome (type 2). The infant developed late-onset hypokalaemia and metabolic alkalosis by week 4 of life. He regained birth weight by week 3 of life but failed to thrive (10–20 g/kg/day) despite high caloric intake (140 kcal/kg/day). His electrolyte abnormalities gradually improved, and he was discharged home without the need for electrolyte supplements or medications.

  • fluid electrolyte and acid-base disturbances
  • genetics
  • neonatal intensive care
  • failure to thrive
  • neonatal health

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Footnotes

  • Twitter @smani_3

  • Contributors SM and DH conceptualized, designed and drafted the initial manuscript. JN and SM discussed the study with the parents and obtained consent. SM, JN and DH critically reviewed and revised the manuscript. All authors approved the final manuscript as submitted.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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