Hereditary pancreatitis: clinical features and inheritance characteristics of the R122C mutation in the cationic trypsinogen gene (PRSS1) in six Spanish families.

Autor:	de las Heras-Castaño G; Hepato-Gastroenterology Unit, Marqués de Valdecilla Universitary Hospital, Santander, Spain. dighcg@humv.es, Castro-Senosiaín B, Fontalba A, López-Hoyos M, Sánchez-Juán P
Jazyk:	angličtina
Zdroj:	JOP : Journal of the pancreas [JOP] 2009 May 18; Vol. 10 (3), pp. 249-55. Date of Electronic Publication: 2009 May 18.
Abstrakt:	Context: Hereditary pancreatitis is an autosomal dominant disease which is caused by mutations in the PRSS1 gene. Objective: The aim of our study was to describe the penetrance and phenotype-genotype correlations of the c.346C>T (p.R122C) mutation. Design: Case series descriptive study. Patients: Forty-one members of six families from whom DNA samples were analyzed. Main Outcome Measures: In subjects with R122C mutation symptoms, pancreatic calcifications, main pancreatic duct changes, diabetes, steatorrhea, pancreatic cancer and surgery were recorded. Results: The R122C mutation was detected in 22 of the 41 family members studied, and 7 men and 2 women developed pancreatic disease, resulting in a penetrance of 40.9%. One out of the 9 patients was excluded because she died before the mutation was detected. The mean age at symptom onset was 23.5 years (range: 4-51 years). Abdominal pain was present in 6 (75.0%) of the 8 patients with the R122C mutation who developed pancreatic disease. Calcifications had developed in 5 (62.5%) at a mean age of 35.8 years (range: 14-56 years). Five (62.5%) developed changes in the pancreatic ducts at a mean age of 44.2 years (range: 19-65 years). Two patients (25.0%) developed steatorrhea during the follow-up at 26 and 35 years of disease progression. Diabetes developed in five patients (62.5%) at a mean age of 41.4 years old (range: 22-53 years). Three of the patients analyzed (37.5%) developed pancreatic cancer at 59 years of age, 63 years of age and 70 years of age. Conclusions: Penetrance of the R122C mutation is lower than that described for the R122H and N29I mutations, and there is a tendency toward a predominance of males with the R122C mutation who developed the phenotype of pancreatitis.
Databáze:	MEDLINE
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