[Dutch patients with hereditary pancreatitis; high mutation frequency, relatively little pain].

Abstract

OBJECTIVE:

To assess genetic, clinical and morphological characteristics of hereditary pancreatitis, a rare type of chronic pancreatitis with an early onset of symptoms, which is, among others, caused by mutations in the PRSS1 gene.

DESIGN:

Observational cohort study.

METHOD:

The study population consisted of 496 patients (27,375 person-years) who were referred to Radboud University Nijmegen Medical Centre for molecular diagnosis of hereditary pancreatitis during period 2000 to 2007. 61 patients with a positive family history of hereditary pancreatitis were selected. Analysis for PRSS1 gene mutations was performed by complete sequence analysis of the exons. All patients received a structured questionnaire.

RESULTS:

From 25 families 61 patients were included (2,047 person-years). PRSS1 mutations were detected in 52 patients (85.2%): p.R122H (67.2%), p.N29I (14.8%), p.E79K (1.6%), p.N29T (1.6%). In the 40 patients whose clinical data were known the median age at diagnosis was 10.5 years (range: 0-42 years). Pain was reported in 28 (70% of 40 patients in whom all information was complete). 27 patients (67.5%) were admitted to the hospital once or more due to the attacks of pancreatitis. Exocrine and endocrine dysfunction was seen in 6 patients (15%). 24 patients (60%) had undergone a surgical intervention, 10 of whom had undergone a pancreaticojejunostomy. A family history of pancreatic carcinoma was found in 5 patients (12.5%).

CONCLUSION:

The percentage of PRSS1 mutation was high (85.2%) among this Dutch population that was selected on basis of a positive family history of hereditary pancreatitis. Most patients had no chronic pain.

• Authors: Monique H M Derikx, Rene H M te Morsche, Jan B M J Jansen, Joost P H Drenth
• Journal: Nederlands tijdschrift voor geneeskunde (Ned Tijdschr Geneeskd) Vol. 153 Pg. A324 ( 2009) ISSN: 1876-8784 [Electronic] Netherlands
• Vernacular Title: Nederlandse patiënten met erfelijke pancreatitis. Hoge PRSS1-mutatiefrequentie, relatief weinig pijn.
• PMID: 19857283 (Publication Type: English Abstract, Journal Article)

Chemical References

• PRSS1 protein, human
• Trypsin

Topics

• Age of Onset
• Cohort Studies
• DNA Mutational Analysis
• Female
• Genetic Predisposition to Disease
• Humans
• Male
• Mutation
• Netherlands (epidemiology)
• Pain (epidemiology, etiology)
• Pancreatic Neoplasms (epidemiology, genetics)
• Pancreatitis, Chronic (complications, genetics, pathology)
• Severity of Illness Index
• Surveys and Questionnaires
• Trypsin (genetics)