Download PDF
J Pediatr Genet 2022; 11(03): 232-235
DOI: 10.1055/s-0040-1717109
Case Report

Chronic pancreatitis caused by a Homozygous SPINK1 c.194 + 2T > C variant and Pancreas Divisum in a 3-year-old child—case report

Katarzyna Zdanowicz 
1   Department of Pediatrics, Gastroenterology, Hepatology, Nutrition and Allergology, Medical University of Bialystok, Bialystok, Poland
,
Miroslawa Uscinowicz
1   Department of Pediatrics, Gastroenterology, Hepatology, Nutrition and Allergology, Medical University of Bialystok, Bialystok, Poland
,
Magdalena Rakowska
2   Department of Gastroenterology, Hepatology, Feeding Disorders and Pediatrics, Children's Memorial Health Institute, Warsaw, Poland
,
Katarzyna Wertheim-Tysarowska
3   Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland
,
Agnieszka Magdalena Rygiel
3   Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland
,
Grzegorz Oracz
2   Department of Gastroenterology, Hepatology, Feeding Disorders and Pediatrics, Children's Memorial Health Institute, Warsaw, Poland
,
Dariusz Marek Lebensztejn
1   Department of Pediatrics, Gastroenterology, Hepatology, Nutrition and Allergology, Medical University of Bialystok, Bialystok, Poland
› Author Affiliations Funding None.
› Further Information
    Permissions and Reprints

Abstract

Chronic pancreatitis (CP) is a rare disease in children. We describe the first case of a 3-year-old Caucasian patient with CP with the presence of a homozygous pathogenic variant c.194 + 2T > C in serine protease inhibitor, Kazal type 1 (SPINK1) and pancreas divisum.

Keywords

SPINK1 - pancreas divisum - children


Publication History

Received: 14 July 2020

Accepted: 21 August 2020

Article published online:
05 October 2020

© 2020. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

  • References

  • 1 Kadaj-Lipka R, Lipiński M, Adrych K. et al. Diagnostic and therapeutic recommendations for chronic pancreatitis. Recommendations of the Working Group of the Polish Society of Gastroenterology and the Polish Pancreas Club. Prz Gastroenterol 2018; 13 (03) 167-181
    PubMedGoogle Scholar
  • 2 Rosendahl J, Landt O, Bernadova J. et al. CFTR, SPINK1, CTRC and PRSS1 variants in chronic pancreatitis: is the role of mutated CFTR overestimated?. Gut 2013; 62 (04) 582-592
    CrossrefPubMedGoogle Scholar
  • 3 Nemeth BC, Sahin-Toth M. Human cationic trypsinogen (PRSS1) variants and chronic pancreatitis. American J Physiol Gastrointestinal Liver Physiol 2014; 306 (06) G466-G473
    CrossrefPubMedGoogle Scholar
  • 4 Párniczky A, Abu-El-Haija M, Husain S. et al. EPC/HPSG evidence-based guidelines for the management of pediatric pancreatitis. Pancreatology 2018; 18 (02) 146-160
    CrossrefPubMedGoogle Scholar
  • 5 Lee YJ, Kim KM, Choi JH, Lee BH, Kim GH, Yoo HW. High incidence of PRSS1 and SPINK1 mutations in Korean children with acute recurrent and chronic pancreatitis. J Pediatr Gastroenterol Nutr 2011; 52 (04) 478-481
    CrossrefPubMedGoogle Scholar
  • 6 Tang XY, Zou WB, Yu FF. et al. Meta-analysis of the impact of the SPINK1 c.194 + 2T > C variant in chronic pancreatitis. Dig Liver Dis 2020; 52 (02) 143-148
    CrossrefPubMedGoogle Scholar
  • 7 Cho SM, Shin S, Lee KA. PRSS1, SPINK1, CFTR, and CTRC pathogenic variants in Korean patients with idiopathic pancreatitis. Ann Lab Med 2016; 36 (06) 555-560
    CrossrefPubMedGoogle Scholar
  • 8 Masson E, Chen JM, Audrézet MP, Cooper DN, Férec C. A conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young French patients. PLoS One 2013; 8 (08) e73522
    CrossrefPubMedGoogle Scholar
  • 9 Liu M, Xia T, Zhang D. et al. Genetic background and clinical characters of pediatric chronic pancreatitis: data and implications from the east. Gastroenterol Res Pract 2017; 2017: 7548753
    PubMedGoogle Scholar
  • 10 Kume K, Masamune A, Kikuta K, Shimosegawa T. [-215G>A; IVS3+2T>C] mutation in the SPINK1 gene causes exon 3 skipping and loss of the trypsin binding site. Gut 2006; 55 (08) 1214
    CrossrefPubMedGoogle Scholar
  • 11 Sun C, Liao Z, Jiang L. et al. The contribution of the SPINK1 c.194+2T>C mutation to the clinical course of idiopathic chronic pancreatitis in Chinese patients. Dig Liver Dis 2013; 45 (01) 38-42
    CrossrefPubMedGoogle Scholar
  • 12 Gasiorowska A, Talar-Wojnarowska R, Czupryniak L. et al. The prevalence of cationic trypsinogen (PRSS1) and serine protease inhibitor, Kazal type 1 (SPINK1) gene mutations in Polish patients with alcoholic and idiopathic chronic pancreatitis. Dig Dis Sci 2011; 56 (03) 894-901
    CrossrefPubMedGoogle Scholar
  • 13 Hasan A, Moscoso DI, Kastrinos F. The role of genetics in pancreatitis. Gastrointest Endosc Clin N Am 2018; 28 (04) 587-603
    CrossrefPubMedGoogle Scholar
  • 14 Ota Y, Masamune A, Inui K, Kume K, Shimosegawa T, Kikuyama M. Phenotypic variability of the homozygous IVS3+2T>C mutation in the serine protease inhibitor Kazal type 1 (SPINK1) gene in patients with chronic pancreatitis. Tohoku J Exp Med 2010; 221 (03) 197-201
    CrossrefPubMedGoogle Scholar
  • 15 Rygiel AM, Wojnicka-Stolarz M, Niepokój K. et al. Chronic pancreatitis in a patient with the p.Asn34Ser homozygous SPINK1 mutation--own experience. Dev Period Med 2015; 19 (3 Pt 2): 347-350
    PubMedGoogle Scholar
  • 16 Venet T, Masson E, Talbotec C. et al. Severe infantile isolated exocrine pancreatic insufficiency caused by the complete functional loss of the SPINK1 gene. Hum Mutat 2017; 38 (12) 1660-1665
    CrossrefPubMedGoogle Scholar
  • 17 Zou WB, Tang XY, Zhou DZ. et al. SPINK1, PRSS1, CTRC, and CFTR genotypes influence disease onset and clinical outcomes in chronic pancreatitis. Clin Transl Gastroenterol 2018; 9 (11) 204
    CrossrefPubMedGoogle Scholar
  • 18 Staritz M, Meyer zum Büschenfelde KH. Elevated pressure in the dorsal part of pancreas divisum: the cause of chronic pancreatitis?. Pancreas 1988; 3 (01) 108-110
    CrossrefPubMedGoogle Scholar
  • 19 Pant C, Sferra TJ. Understanding pediatric chronic pancreatitis: inspiration and hard work required. J Pediatr 2015; 166 (04) 798-800
    CrossrefPubMedGoogle Scholar
  • 20 Garg PK, Khajuria R, Kabra M, Shastri SS. Association of SPINK1 gene mutation and CFTR gene polymorphisms in patients with pancreas divisum presenting with idiopathic pancreatitis. J Clin Gastroenterol 2009; 43 (09) 848-852
    CrossrefPubMedGoogle Scholar
  • 21 DiMagno MJ, Wamsteker EJ. Pancreas divisum. Curr Gastroenterol Rep 2011; 13 (02) 150-156
    CrossrefPubMedGoogle Scholar
  • 22 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 (02) 311-317
    CrossrefPubMedGoogle Scholar