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Pancreatic, hepatobiliary, and gastrointestinal manifestations of children with cystic fibrosis: A 10-year experience from a tertiary care center in southern India



To describe the demography and spectrum of pancreatic, hepatobiliary, and gastrointestinal (GI) manifestations in children with cystic fibrosis (CF) from the Indian subcontinent.


In this retrospective study, relevant information from the database of all children with CF below 18 years of age was collected and analyzed.


Among the total 109 children, 58 (53%) were from the southern states of India. The most common manifestation was pancreatic insufficiency (PI) in 85 (83%) children. Those with PI presented at an earlier age (1.8 vs. 6.9 years). Cirrhosis with portal hypertension was documented in only one patient and meconium ileus in three (2.8%). There was significant malnutrition in the PI cohort with a mean weight-for-age Z-score of − 3.17 ± 1.79 at diagnosis. Twenty-one (19%) patients had died during the follow-up and 18 (90%) of them had PI. There was no difference in the prevalence of selected pulmonary manifestations in the PI and pancreatic sufficient (PS) groups. Among children with PI, 78 were screened for ΔF508 mutation, 16 (21%) were homozygous, and 17 (22%) were heterozygous. In the PS group, only 2 (14%) were heterozygous for ΔF508 mutation. The median duration of follow-up of the patients was 1.8 (1.5) years.


PI is the most common GI manifestation of children with CF and is associated with severe malnutrition and poor outcome. Timely identification and management of the comorbidities involving the digestive system are essential for better growth and quality of life in these children.

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1. Department of Medical Genetics of Christian Medical College, Vellore, for providing the facility for CFTR genetic testing.

2. Cystic Fibrosis Foundation (CFF), United States of America (USA), for providing grant which was used for CFTR mutation analysis and confirmation of diagnosis.

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Authors and Affiliations



Conceptualized and designed the study, collected and analyzed data, reviewed literature, and prepared initial draft of the manuscript: L.T., M.K., A.P.L., S.V. Data analysis and manuscript preparation: G.R., S.V. All authors critically revised and approved the final version of the manuscript.

Corresponding author

Correspondence to B. Arul Premanand Lionel.

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LT, MK, BAPL, SV, and GR declare that they have no conflict of interest.

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IRB approval number: 13029 dated 24.06.2020.

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The study was performed conforming to the Helsinki declaration of 1975, as revised in 2000 and 2008 concerning human and animal rights, and the authors followed the policy concerning informed consent as shown on


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Thomas, L., Kumar, M., Lionel, B.A.P. et al. Pancreatic, hepatobiliary, and gastrointestinal manifestations of children with cystic fibrosis: A 10-year experience from a tertiary care center in southern India. Indian J Gastroenterol 41, 266–272 (2022).

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  • Cystic fibrosis
  • Exocrine pancreatic insufficiency
  • Genotype
  • India
  • Liver diseases
  • Malnutrition
  • Meconium ileus
  • Mutation
  • Pancreatitis
  • Pediatrics