Sahana Ravikumar and Amitoj Singh Chhina*

MD (Paediatrics), Cloudnine Hospital, Bengaluru, India

*Corresponding Author: Amitoj Singh Chhina, MD (Paediatrics), Cloudnine Hospital, Bengaluru, India.

Received: January 23, 2026; Published: February 27, 2026

Abstract

Background: Guanylate Cyclase C (GC-C; Gucy2c) is a transmembrane receptor that is expressed in the intestinal epithelial cells and activation of GC-C by its secreted ligand guanylin stimulates intestinal fluid secretion. Familial mutations in GC-C cause chronic diarrheal disease or constipation and are associated with intestinal inflammation and infection.

Clinical Description: We describe a case of meconium ileus with an unusual presentation and underlying cause. The newborn presented with non-passage of meconium and cystic fibrosis was suspected but immunoreactive trypsinogen levels were normal. Whole exome sequencing helped establish a diagnosis.

Management: A multidisciplinary follow-up including medical geneticist and pediatric gastroenterologist was arranged. The child has been on regular follow-up, with a normal growth and development and has had no further gastrointestinal issues.

Conclusions: High index of suspicion and detailed diagnostic work up are required for early diagnosis and management of GUCY2C mutations.

Keywords: GUCY-2C Mutation; Familial Diarrhea; Neonate; Cystic Fibrosis; Intestinal Obstruction; Genetic Disorder

References

1. Allan JL., et al. “Familial occurrence of meconium ileus”. European Journal of Pediatrics 135 (1981): 291–292.
2. Kerem E., et al. “Clinical and genetic comparisons of patients with cystic fibrosis, with or without meconium ileus”. Journal of Pediatrics 114 (1989): 767-773.
3. Romi H., et al. “Meconium ileus caused by mutations in GUCY2C, encoding the CFTR-activating guanylate cyclase 2C”. American Journal of Human Genetics5 (2015): 893-899.
4. Loening-Baucke V and Kimura K. “Failure to pass meconium: Diagnosing neonatal intestinal obstruction”. American Family Physician 60 (1999): 2043–2050.
5. Franke A., et al. “Genome-wide meta-analysis increases to 71 the number of confirmed Crohn’s disease susceptibility loci”. Nature Genetics 42 (2010): 1118-1125.
6. Berni Canani R., et al. “Congenital diarrheal disorders: improved understanding of gene defects is leading to advances in intestinal physiology and clinical management”. Pediatric Gastroenterology and Nutrition 50 (2010): 360-366.
7. Saito YA. “The role of genetics in IBS”. Gastroenterology Clinics of North America 40 (2011): 45-67.
8. Basu N., et al. “Receptor guanylyl cyclase C (GC-C): regulation and signal transduction”. Molecular and Cellular Biochemistry 334 (2010): 67-80.
9. Steinbrecher Kris A. “The multiple roles of guanylate cyclase C, a heat stable enterotoxin receptor”. Current Opinion in Gastroenterology1 (2024): 1-6.

Citation

Citation: Sahana Ravikumar and Amitoj Singh Chhina. “An Unusual Case of Delayed Meconium Passage: Guanylate Cyclase C Mutation in a Neonate". Acta Scientific Gastrointestinal Disorders 9.2 (2026): 04-06.

Copyright

Copyright: © 2026 Sahana Ravikumar and Amitoj Singh Chhina. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.