The importance of genetic testing in children with idiopathic chronic pancreatitis

Česká verzia

Authors: E. Hegyi ¹; L. Vávrová ²; M. Konečný ²; L. Kovács ¹; I. Čierna ¹
Authors place of work: II. detská klinika LF UK a DFNsP Bratislava, Slovenská republika ¹; Oddelenie lekárskej genetiky, Onkologický ústav sv. Alžbety, s. r. o., Bratislava, Slovenská republika ²
Published in the journal: Gastroent Hepatol 2015; 69(6): 554-559
Category:
doi: https://doi.org/10.14735/amgh2015554

Summary

While in adults the major etiological factor of chronic pancreatitis is excessive alcohol consumption, in children, together with anatomical anomalies of the pancreas and biliary tract, genetic factors seem to be crucial.

Aim:
Our aim was to investigate the frequency of mutations in genes associated with the development of recurrent acute pancreatitis or chronic pancreatitis in children and then monitor the genotype-phenotype correlations in the patients.

Material and methods:
Twenty-one children with recurrent acute pancreatitis or chronic pancreatitis of unknown etiology diagnosed between 2008 and 2013 at the 2^nd Department of Pediatrics, University Children’s Hospital, Bratislava, were enrolled in the study. Molecular genetic analysis of PRSS1, SPINK1 and CTRC genes was performed in cooperation with the Department of Medical Genetics at St. Elisabeth’s Institute of Oncology.

Results:
Family history was positive in five cases. In 2 out of 21 patients, the p.R122H mutation of PRSS1 gene was found; one patient was a trans-heterozygous carrier of the p.G208A (PRSS1) and p.G60G (CTRC) variants. The p.N34S mutation of SPINK1 gene was seen in six patients (two homozygous and four heterozygous), out of which four were trans-heterozygotes with the p.G60G (CTRC) variant. One patient was homozygous for p.G60G, one was heterozygous for p.R254W and one was heterozygous for p.G214R variant of the CTRC gene.

Conclusion:
In a group of 21 pediatric patients with recurrent acute pancreatitis/chronic pancreatitis of unknown etiology, a high prevalence of causal mutations associated with the development of the disease was found. These results confirm the importance of genetic testing in children with idiopathic recurrent acute pancreatitis/chronic pancreatitis.

Key words:
chronic pancreatitis – hereditary pancreatitis – genetic predisposition to disease – genetic analysis – pancreatitis in children

The authors declare they have no potential conflicts of interest concerning drugs, products, or services used in the study.

The Editorial Board declares that the manuscript met the ICMJE „uniform requirements“ for biomedical papers.

Submitted:
5. 11. 2015

Accepted:
29. 11. 2015

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