Skip to main content

Genetic Evaluation of Children with Idiopathic Recurrent Acute Pancreatitis



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.


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).


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).


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.

This is a preview of subscription content, access via your institution.


  1. Hasan A, Moscoso DI, Kastrinos F. The role of genetics in pancreatitis. Gastrointest Endosc Clin N Am. 2018;28:587–603.

    Article  Google Scholar 

  2. Sultan M, Werlin S, Venkatasubramani N. Genetic prevalence and characteristics in children with recurrent pancreatitis. J Pediatr Gastroenterol Nutr. 2012;54:645–650.

    Article  Google Scholar 

  3. Vue PM, McFann K, Narkewicz MR. Genetic mutations in pediatric pancreatitis. Pancreas. 2016;45:992–996.

    CAS  Article  Google Scholar 

  4. Xiao Y, Yuan W, Yu B, et al. Targeted gene next-generation sequencing in Chinese children with chronic pancreatitis and acute recurrent pancreatitis. J Pediatr. 2017;191:e153.

    Article  Google Scholar 

  5. Morinville VD, Husain SZ, Bai H, et al. Definitions of pediatric pancreatitis and survey of present clinical practices. J Pediatr Gastroenterol Nutr. 2012;55:261–265.

    Article  Google Scholar 

  6. Avanthi SU, Ravi Kanth VV, Agarwal J, et al. Association of claudin2 and PRSS1-PRSS2 polymorphisms with idiopathic recurrent acute and chronic pancreatitis: a case-control study from India. J Gastroenterol Hepatol. 2015;30:1796–1801.

    CAS  Article  Google Scholar 

  7. Giefer MJ, Lowe ME, Werlin SL, et al. Early-onset acute recurrent and chronic pancreatitis is associated with PRSS1 or CTRC gene mutations. J Pediatr. 2017;186:95–100.

    CAS  Article  Google Scholar 

  8. Saito N, Suzuki M, Sakurai Y, et al. Genetic analysis of Japanese children with acute recurrent and chronic pancreatitis. J Pediatr Gastroenterol Nutr. 2016;63:431–436.

    CAS  Article  Google Scholar 

  9. Lucidi V, Alghisi F, Dall’Oglio L, et al. The etiology of acute recurrent pancreatitis in children: a challenge for pediatricians. Pancreas. 2011;40:517–521.

    Article  Google Scholar 

  10. Mahurkar S, Idris MM, Reddy DN, et al. Association of cathepsin B gene polymorphisms with tropical calcific pancreatitis. Gut. 2006;55:1270–1275.

    CAS  Article  Google Scholar 

  11. Bertin C, Pelletier AL, Vullierme MP, et al. Pancreas divisum is not a cause of pancreatitis by itself but acts as a partner of genetic mutations. Am J Gastroenterol. 2012;107:311–317.

    CAS  Article  Google Scholar 

  12. Lin TK, Abu-El-Haija M, Nathan JD, et al. Pancreas divisum in pediatric acute recurrent and chronic pancreatitis: report from INSPPIRE. J Clin Gastroenterol.. 2019;53:e232–e238.

    CAS  Article  Google Scholar 

Download references


There was no funding for the present study.

Author information

Authors and Affiliations


Corresponding author

Correspondence to Zaheer Nabi.

Ethics declarations

Conflict of interest

The authors declare no conflict of interest.

Ethical approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional research committee and with the 1964 Declaration of Helsinki and its later amendments or comparable ethical standards.

Informed consent

Informed consent was obtained from all the participants in the study.

Additional information

Publisher's Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Electronic supplementary material

Below is the link to the electronic supplementary material.

Supplementary material 1 (PNG 1198 kb)

Rights and permissions

Reprints and Permissions

About this article

Verify currency and authenticity via CrossMark

Cite this article

Nabi, Z., Talukdar, R., Venkata, R. et al. Genetic Evaluation of Children with Idiopathic Recurrent Acute Pancreatitis. Dig Dis Sci 65, 3000–3005 (2020).

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI:


  • Pancreatitis
  • Children
  • Genetic mutations