AN EXCEPTIONAL GENEALOGY FOR HEREDITARY CHRONIC-PANCREATITIS

Nearly one hundred families affected with hereditary chronic pancreati tis (HCP) have been reported in the literature. However, the fact that the disease involved only a few members of each family limits the inf ormativeness of these reports and accounts for the infrequency and dis appointing results of pathogenetic and genetic research. Our study con cerned an exceptional HCP genealogy which would seem to provide an ide al model for the detection of a genetic anomaly linked to the expressi on of the disease. We studied 249 members of a family (214 still alive ), covering eight generations born between 1800 and 1993. According to the customary criteria, 63 had definite and 17 probable HCP. Fifty-ei ght members under 18 years of age were still susceptible to developing the disease. This series confirms the mode of autosomal dominant here dity with variable penetrance. The clinical features and disease cours e were typical, except that symptoms tended to appear earlier. The ser ies represents the most extensive HCP genealogy compiled and is one of the largest families studied in the field of genetic disease, regardl ess of etiology. Blood samples were taken from 146 subjects to facilit ate pathogenetic and genetic research.