Genetic Background and Clinical Characters of Pediatric Chronic Pancreatitis: Data and Implications from the East

Abstract EN

Background.

The clinical pattern and genetic background of juvenile idiopathic chronic pancreatitis (ICP) are yet unclear.

Methods.

A retrospective study of 73 Chinese juvenile ICP patients was performed, and genetic tests were carried out to detect relevant mutations using direct sequencing technique and high-resolution melting technique.

Subjects without pancreatitis served as controls.

Results.

The SPINK1 c.194+2T>C variant was present in 56.16% and 42.00% of juvenile and adult ICP patients, respectively (p=0.020), but was not present in any of the control subjects.

Thirty-four (46.58%) of the 73 juvenile ICP patients were male, and a significantly higher ratio of male patients in the adult group was identified (46.58% versus 64.00%, p=0.022).

Although most of the juvenile patients presented with abdominal pain (70/73, 95.89%), the patterns of pain attack are significantly different in patients with or without SPINK1 c.194+2T>C mutation.

Patients carrying the mutation are more likely to present with recurrent acute pancreatitis (70.70%).

Conclusions.

The main symptom of pediatric ICP was abdominal pain.

SPINK1 c.194+2T>C mutation had a higher occurrence in juvenile ICP patients than in adult group and typically presented with recurrent acute pancreatitis.

There may be unidentified factors that lead to a greater incidence rate of ICP in adult male population.