Sarles H, Camarena J, Bernard J P, Sahel J, Laugier R
Unité de Recherches de Physiologie et Physiopathologie Digestives, U 315 INSERM, Marseille.
Bull Acad Natl Med. 1993 Apr;177(4):565-71; discussion 571-4.
We previously reported that the most frequent cases of chronic pancreatitis were the consequence of pancreatic lithiasis and that there were different forms of pancreatic lithiasis with different etiologies and composition of calculi. The most frequent form is the calcic lithiasis, generally due to nutritional disorders. The second most frequent form is proteic lithiasis. In this paper, we report 1.) Ten hereditary cases on a total of 36 patients presenting with proteic lithiasis (age at clinical onset 15 +/- 12 years); 2.) one hereditary case on a total of 150 patients with proteic lithiasis. In these two different maladies, the transmission seems to be dominant, autosomal with incomplete penetrance. Hereditary pancreatitis is therefore a group of at least two different diseases, hereditary protein lithiasis, the most frequent one and hereditary calcic lithiasis exceptional.
我们之前报道过，慢性胰腺炎最常见的病例是胰腺结石的结果，并且存在不同形式的胰腺结石，其病因和结石成分各异。最常见的形式是钙化性结石，通常由营养紊乱引起。第二常见的形式是蛋白性结石。在本文中，我们报告：1. 在总共36例患有蛋白性结石的患者中，有10例遗传性病例（临床发病年龄为15±12岁）；2. 在总共150例患有蛋白性结石的患者中，有1例遗传性病例。在这两种不同的疾病中，遗传似乎是显性的，常染色体遗传且外显不全。因此，遗传性胰腺炎是一组至少两种不同的疾病，即最常见的遗传性蛋白性结石和罕见的遗传性钙化性结石。
