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Am J Gastroenterol. 2017 Aug;112(8):1320-1329. doi: 10.1038/ajg.2017.106. Epub 2017 Apr 25.

An Evaluation of Factors Associated With Pathogenic PRSS1, SPINK1, CTFR, and/or CTRC Genetic Variants in Patients With Idiopathic Pancreatitis.

Author information

1
Division of Gastroenterology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
2
Pancreatitis Center, Division of Pancreaticobiliary Surgery, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
3
Department of Surgery, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
4
Cell Biology &Molecular Physiology, and Human Genetics, University of Pittsburgh/UPMC, Pittsburgh, Pennsylvania, USA.
5
Division of Gastroenterology, Hepatology and Nutrition, Department of Medicine, University of Pittsburgh/UPMC, Pittsburgh, Pennsylvania, USA.

Abstract

OBJECTIVES:

We evaluated factors associated with pathogenic genetic variants in patients with idiopathic pancreatitis.

METHODS:

Genetic testing (PRSS1, CFTR, SPINK1, and CTRC) was performed in all eligible patients with idiopathic pancreatitis between 2010 to 2015. Patients were classified into the following groups based on a review of medical records: (1) acute recurrent idiopathic pancreatitis (ARIP) with or without underlying chronic pancreatitis; (2) idiopathic chronic pancreatitis (ICP) without a history of ARP; (3) an unexplained first episode of acute pancreatitis (AP)<35 years of age; and (4) family history of pancreatitis. Logistic regression analysis was used to determine the factors associated with pathogenic genetic variants.

RESULTS:

Among 197 ARIP and/or ICP patients evaluated from 2010 to 2015, 134 underwent genetic testing. A total of 88 pathogenic genetic variants were found in 64 (47.8%) patients. Pathogenic genetic variants were identified in 58, 63, and 27% of patients with ARIP, an unexplained first episode of AP <35 years of age, and ICP without ARP, respectively. ARIP (OR: 18.12; 95% CI: 2.16-151.87; P=0.008) and an unexplained first episode of AP<35 years of age (OR: 2.46; 95% CI: 1.18-5.15; P=0.017), but not ICP, were independently associated with pathogenic genetic variants in the adjusted analysis.

CONCLUSIONS:

Pathogenic genetic variants are most likely to be identified in patients with ARIP and an unexplained first episode of AP<35 years of age. Genetic testing in these patient populations may delineate an etiology and prevent unnecessary diagnostic testing and procedures.

PMID:
28440306
DOI:
10.1038/ajg.2017.106
[Indexed for MEDLINE]

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