Le Bodic L, Schnee M, Georgelin T, Soulard F, Ferec C, Bignon J D, Sagniez M
Clinique des Maladies de l'Appareil Digestif, Hôpital Laénnac, Nantes, France.
Dig Dis Sci. 1996 Jul;41(7):1504-10. doi: 10.1007/BF02088580.
Nearly one hundred families affected with hereditary chronic pancreatitis (HCP) have been reported in the literature. However, the fact that the disease involved only a few members of each family limits the informativeness of these reports and accounts for the infrequency and disappointing results of pathogenetic and genetic research. Our study concerned an exceptional HCP genealogy which would seem to provide an ideal model for the detection of a genetic anomaly linked to the expression 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-eight members under 18 years of age were still susceptible to developing the disease. This series confirms the mode of autosomal dominant heredity with variable penetrance. The clinical features and disease course were typical, except that symptoms tended to appear earlier. The series represents the most extensive HCP genealogy compiled and is one of the largest families studied in the field of genetic disease, regardless of etiology. Blood samples were taken from 146 subjects to facilitate pathogenetic and genetic research.
文献中已报道了近100个患有遗传性慢性胰腺炎（HCP）的家族。然而，该疾病仅累及每个家族的少数成员这一事实限制了这些报告的信息量，也导致了病因学和遗传学研究的稀少以及令人失望的结果。我们的研究涉及一个特殊的HCP家族谱系，它似乎为检测与该疾病表达相关的基因异常提供了一个理想模型。我们研究了一个家族的249名成员（214名仍在世），涵盖了1800年至1993年间出生的八代人。根据惯用标准，63人患有确诊的HCP，17人可能患有HCP。58名18岁以下的成员仍有患该病的风险。该系列证实了具有可变外显率的常染色体显性遗传模式。临床特征和病程是典型的，只是症状往往出现得更早。该系列是所编纂的最广泛的HCP家族谱系，也是在遗传疾病领域研究的最大家族之一，无论其病因如何。从146名受试者身上采集了血样，以促进病因学和遗传学研究。
