| Literature DB >> 29141924 |
Ibtihal Siddiq Abdelgadir1, Fawzia Elgharbawy2, Khalil Mohamad Salameh3, Baha Eldin Juma2.
Abstract
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. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.Entities:
Keywords: genetics; neonatal health; renal medicine
Mesh:
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Year: 2017 PMID: 29141924 PMCID: PMC5695498 DOI: 10.1136/bcr-2017-221062
Source DB: PubMed Journal: BMJ Case Rep ISSN: 1757-790X