Abstract
Background
Genetic predisposition in paediatric idiopathic acute, acute recurrent pancreatitis
and its consequences are unknown. We studied frequency of genetic markers in acute,
acute recurrent, chronic pancreatitis and their impact on natural history.
Methods
Over a period of 2 years 68 consecutive children with pancreatitis (35.3% acute, 32.3%
acute recurrent, 32.3% chronic) and 25 controls were recruited in a single centre.
Common mutations for serine-protease-inhibitor (SPINK1 N34S), protease-inhibitor (PRSS1
R122H) and cystic fibrosis transmembrane conductance regulator (CFTR DeltaF508, 5T)
were analysed.
Results
Mean age was 13.4 ± 2.5 years. Overall, 30 cases (SPINK1 N34S n = 26, CFTR 5T n = 4) and 1 control (SPINK1 N34S) had mutations (p = 0.0001). The prevalence of SPINK1 N34S mutation was similar in chronic and acute recurrent
pancreatitis (45%). Six children with severe acute pancreatitis had SPINK1 N34S mutations
(25%, p < 0.05), and 4 were homozygous. On follow-up 5 acute pancreatitis patients with mutations
and 1 without mutations developed chronic pancreatitis (p = 0.004); 8 cases of acute recurrent pancreatitis progressed to chronic pancreatitis
(38%); of these 66.7% had mutations vs. 16.7% who did not (p = 0.03).
Conclusions
Almost 50% of idiopathic chronic, acute recurrent and 33% of acute pancreatitis in
children are genetically predisposed. Presence of genetic mutations in acute and recurrent
acute pancreatitis increases the risk of developing chronic pancreatitis.
Keywords
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Article Info
Publication History
Published online: May 15, 2015
Accepted:
April 18,
2015
Received:
December 19,
2014
Identification
Copyright
© 2015 Editrice Gastroenterologica Italiana S.r.l. Published by Elsevier Inc. All rights reserved.
