Article
Antenatal Bartter syndrome: a new compound heterozygous mutation in exon 2 of KCNJ1 gene.
BMJ case reports - 18 Oct 2021
Mani Srinivasan, Nair Jayasree, Handa Deepali
Abstract excerpt
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...
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