Comprehensive screening for PRSS1, SPINK1, CFTR, CTRC and CLDN2 gene mutations in Chinese paediatric patients with idiopathic chronic pancreatitis: a cohort study.

ABSTRACT:

Objective

Genetic alterations may contribute to chronic pancreatitis (CP) in Chinese young patients. This study was designed to investigate mutations of cationic trypsinogen (PRSS1), pancreatic secretory trypsin inhibitor or serine protease inhibitor Kazal type 1 (SPINK1), cystic fibrosis transmembrane conductance regulator (CFTR), chymotrypsin C (CTRC) and CLDN2 genes and the copy number variations (CNVs) of PRSS1 and asses associations with the development of idiopathic CP (ICP) in Chinese children.

Design

Retrospective.

Setting

A single center.

Participants

75 ICP Chinese children (40 boys and 35 girls).

Primary and secondary outcome measures

Mutations of PRSS1, SPINK1, CFTR, CTRC and CLDN2 genes and CNVs.

Results

7 patients had heterozygous mu

SUBMITTER: Wang W 

PROVIDER: S-EPMC3773632 | biostudies-literature | 2013 Sep

REPOSITORIES: biostudies-literature