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Genetic Evaluation of Children with Idiopathic Recurrent Acute Pancreatitis
Zaheer Nabi1, Rupjyoti Talukdar2, Ravikanth Venkata2
1Asian Institute of Gastroenterology, 6-3-661, Hyderabad, 500082, India. zaheernabi1978@gmail.com.
Insights
Genetic mutations are common in children with idiopathic acute recurrent pancreatitis (IARP), affecting most patients. These genetic factors were found in the majority of pediatric IARP cases, highlighting their importance in disease development.
Area of Science:
- Pediatric Gastroenterology
- Medical Genetics
- Pancreatic Diseases
Background:
- Idiopathic acute recurrent pancreatitis (IARP) has known genetic risk factors in adults.
- Genetic research in pediatric IARP is limited, creating a knowledge gap.
- Understanding genetic predispositions in children is crucial for diagnosis and management.
Purpose of the Study:
- To investigate and analyze the genetic risk factors associated with IARP in children.
- To identify specific gene mutations and polymorphisms contributing to pediatric IARP.
- To compare genetic findings in IARP patients with and without pancreas divisum.
Main Methods:
- Prospective enrollment of children (<18 years) diagnosed with acute recurrent pancreatitis (ARP).
- Exclusion of ARP cases with known causes (obstructive, toxic/metabolic, autoimmune).
- Genetic testing for mutations/polymorphisms in key pancreatitis-associated genes (PRSS1, SPINK1, CFTR, CTRC, CLDN2, CTSB).
Main Results:
- 239 children were enrolled; 204 (85.35%) were classified as IARP.
- Genetic mutations/polymorphisms were identified in 89.5% of tested IARP children.
- High incidences of mutations were noted in CLDN2 (72.9%), CTSB (54.9%), PRSS1 (58.2%), and SPINK1 (41.9%).
Conclusions:
- The majority of children diagnosed with IARP exhibit underlying genetic alterations.
- Genetic mutations are prevalent in pediatric IARP, underscoring their significance.
- No significant difference in genetic mutation incidence was observed between IARP patients with or without pancreas divisum.
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.
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