Genetic Evaluation of Children with Idiopathic Recurrent Acute Pancreatitis.

Abstract

OBJECTIVES:

Several genetic risk factors have been identified in adults with idiopathic acute recurrent pancreatitis (IARP). However, the literature regarding the genetics of IARP is sparse in children. In this study, we aimed to analyze the genetic risk factors in children with IARP.

METHODS:

All children (< 18 years) with ARP from January 2015 to May 2018 were prospectively enrolled in the study. Children with a known cause of ARP like obstructive, toxic/metabolic, and autoimmune were excluded from the final analysis. Children with IARP underwent genetic testing for mutations/polymorphisms in genes known to predispose to pancreatitis including cationic trypsinogen protease serine 1 (PRSS1), serine protease inhibitor Kazal type 1 (SPINK1), cystic fibrosis transmembrane conductance regulator gene (CFTR), chymotrypsin C (CTRC), claudin-2 (CLDN2) and cathepsin B (CTSB).

RESULTS:

A total of 239 children (116 boys, 10.3 ± 3.7 years) were enrolled during the study period. Of these, 204 (85.35%) children were identified as IARP. The mean age of symptom onset and the number of pancreatitis episodes were 8.3 ± 3.7 years and 3.3 ± 1.8, respectively. A family history of pancreatitis was noted in 4.6% children. Mutations/polymorphisms in at least 1 gene were identified in 89.5% (129/144) children including SPINK1 in 41.9%, PRSS1 (rs10273639) in 58.2%, CTRC in 25.6%, CTSB in 54.9%, CLDN2 in 72.9%, and CFTR in 2.3%. There was no significant incidence of genetic mutations/polymorphisms in IARP with or without pancreas divisum (95.7 vs 88.4%; p = 0.467).

CONCLUSIONS:

Genetic alterations are present in the majority of the children with IARP. The incidence of genetic mutations is similar in children with or without pancreas divisum.

• Authors: Zaheer Nabi, Rupjyoti Talukdar, Ravikanth Venkata, Mohsin Aslam, Upender Shava, D Nageshwar Reddy
• Journal: Digestive diseases and sciences (Dig Dis Sci) Vol. 65 Issue 10 Pg. 3000-3005 (10 2020) ISSN: 1573-2568 [Electronic] United States
• PMID: 31900721 (Publication Type: Journal Article)

Chemical References

• Genetic Markers

Topics

• Acute Disease
• Adolescent
• Age Factors
• Child
• DNA Mutational Analysis
• Female
• Genetic Markers
• Genetic Predisposition to Disease
• Genetic Testing
• Humans
• India
• Male
• Mutation
• Mutation Rate
• Pancreatitis (diagnosis, genetics)
• Phenotype
• Polymorphism, Single Nucleotide
• Predictive Value of Tests
• Prospective Studies
• Recurrence
• Risk Assessment
• Risk Factors