Genetic and clinical profile of neonates with meconium ileus: A case series
We present a case series describing the management and genetic findings in five neonates with meconium ileus, presenting within 48 h of birth. Whole-exome sequencing identified cystic fibrosis transmembrane conductance regulator mutations in three neonates, confirming cystic fibrosis, with one heterozygous variant of unknown significance. Two ultimately required surgical intervention after failed conservative management. One died of septic shock.
Authors
- Chaitra Angadi (ORCID: https://orcid.org/0000-0001-6436-3810)
- Suman Chaurasia (ORCID: https://orcid.org/0000-0002-3871-5322)
- Poonam Singh (ORCID: https://orcid.org/0000-0001-5570-0862)
- Sriparna Basu (ORCID: https://orcid.org/0000-0001-5048-4849)
- Pankaj Chaudhary
- Mayank Priyadarshi (ORCID: https://orcid.org/0000-0002-4436-6181)
Institutions
- All India Institute of Medical Sciences Rishikesh (IN)
- Jawaharlal Institute of Post Graduate Medical Education and Research (IN)
- All India Institute of Medical Sciences (IN)
Publication Details
- Journal
- Tropical Doctor
- Published
- 2025-09-16
- DOI
- https://doi.org/10.1177/00494755251376415
- Primary Topic
- Cystic Fibrosis Research Advances
- Type
- article
- Field-Weighted Citation Impact
- 0.00