Article Text
Summary
Antenatal Bartter syndrome is a rare condition that can present with different clinical features. These features include early onset maternal polyhydramnios, failure to thrive, prematurity and nephrocalcinosis.
We are presenting this 20-day-old girl who had an antenatal history of polyhydramnios. She developed persistent non-bilious vomiting that was associated with constipation soon after birth. She presented with failure to thrive and features suggestive of intestinal obstruction. On the initial evaluation, she was noted to have hypokalaemic, hyponatraemic metabolic alkalosis. The initial work-up was done to exclude surgical and renal causes of her presentation, and the diagnosis was confirmed by gene analysis to be type III—classic Bartter syndrome. She was closely monitored for her growth and development with the appropriate salt replacement therapy.
- genetics
- neonatal health
- renal medicine
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Footnotes
Contributors ISA conceived the idea of the case report, drafted the manuscript and made final changes. FE helped in the initial draft and literature search and updated the final version. KMS and BEJ revised and edited the manuscript as experts in the field.
Competing interests None declared.
Patient consent Obtained.
Provenance and peer review Not commissioned; externally peer reviewed.