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Congenital sodium diarrhoea caused by rare de novo activating guanylate cyclase mutation
  1. Surichhya Bajracharya1,
  2. Duane Stich1,
  3. James Berman2 and
  4. Vincent Biank3
  1. 1Neonatology, Advocate Children's Hospital, Park Ridge, Illinois, USA
  2. 2Pediatric Gastroenterology, Advocate Children's Hospital, Park Ridge, Illinois, USA
  3. 3Pediatric Gastroenterology, NorthShore University HealthSystem, Evanston, Illinois, USA
  1. Correspondence to Dr Surichhya Bajracharya; suribajracharya{at}gmail.com

Abstract

A male infant with prenatal history significant for polyhydramnios requiring multiple amnioreductions with suspicion of small bowel atresia was born at 31 weeks 5 days’ gestation with abdominal distension. He underwent three exploratory laparotomies and ileostomy for small bowel obstruction and was found to have fluid-filled intestinal dilatation. Serum and stool chemistries suggested sodium secretory diarrhoea. A rapid whole-exome sequencing confirmed de novo guanylate cyclase mutation variant as a cause for his congenital sodium secretory diarrhoea. He required large volume of fluid and electrolyte replacement along with total parenteral nutrition. Several medications to restore normal sodium homeostasis by targeting molecular mechanisms and pathogenesis described in previous literature failed to decrease stool output and electrolyte loss. He was discharged home at 11 months of age on total parenteral nutrition and weekly iron therapy.

  • Gastroenterology
  • Neonatal and paediatric intensive care

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Footnotes

  • Contributors SB—active participation in the treatment of the case with substantial contribution to the literature search, conception or design of the work, acquisition of data, drafting the work and revising it critically for important intellectual content. DS—active participation in the treatment of the case with substantial contribution to drafting the work and revising it critically for important intellectual content. JB—active participation in the treatment of the case with substantial contribution to the literature search, drafting the work and revising it critically for important intellectual content. VB—active participation in the treatment of the case with substantial contribution to the literature search, drafting the work and revising it critically for important intellectual content.

  • 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.

  • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

  • Competing interests None declared.

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