JOP : Journal of the pancreas · 2009
Hereditary pancreatitis: clinical features and inheritance characteristics of the R122C mutation in the cationic trypsinogen gene (PRSS1) in six Spanish families.
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de las Heras-Castaño Gonzalo, Castro-Senosiaín Beatriz, Fontalba Ana, López-Hoyos Marcos, Sánchez-Juán Pascual
Аннотация
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.
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.