Antenatal Bartter syndrome: a new compound heterozygous mutation in exon 2 of KCNJ1 gene

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.

Bartter Syndrome: A Systematic Review of Case Reports and Case Series

“…We have identified six such case reports, in which an initial hyperkalemic presentation was seen. Mani et al [ 35 ] suggest that an early postnatal transient hyperkalemia with a history of prematurity, polyuria, and polyhydramnios should raise suspicion for antenatal BS, due to KCNJ1 mutation. Adding to that, a report by Akuma et al [ 14 ] suggests that physicians must be aware of the Type II subtype of neonatal BS, which presents with early transient hyperkalemia, ultimately preventing a misdiagnosis, such as pseudohypoaldosteronism or otherwise.…”