Department of Medical Gastroenterology S, Odense University Hospital, University of Southern Denmark, Sdr. Boulevard 29, 5000, Odense C, Denmark,
Dig Dis Sci. 2010 Oct;55(10):2988-98. doi: 10.1007/s10620-009-1118-4. Epub 2010 Jan 28.
BACKGROUND/AIMS: Publications on etiology of chronic pancreatitis (CP) are infrequent. Etiologies today encompass genetic disorders. We wanted to describe etiologies of today and identify patients with genetic disorders like hereditary pancreatitis (HP), mutations in Serine Protease Inhibitor Kazal type1 (SPINK1), and the Cystic Fibrosis Transmembrane Conductance Regulator gene (CFTR) among patients formerly considered to have idiopathic CP.
Data on patients diagnosed with first-time CP < 30 years of age in Denmark identified in the Danish National Registry of Patients were retrieved. Patients previously considered to have idiopathic pancreatitis were offered genetic counseling and evaluation for HP, SPINK1, and CFTR mutations.
In the period 1980-2004, 580 patients < 30 years of age presented with CP, the standardized prevalence ratio of CP increased from 11.7 per 100,000 person years in 1980-1984 to 17.0 per 100,000 in 2000-2004 (p < 0.001). The odds ratio (OR) having gallstone-related CP increased in the latter time period, especially in women, that of alcohol-induced CP decreased over time. OR having idiopathic CP increased in the latter period; 50% of patients with idiopathic pancreatitis accepted genetic reevaluation; 28 patients had a genetic mutation that totally or partly could explain their pancreatitis, nine of these had two, and 11 patients had HP.
The prevalence of CP, especially in women, increased over time. Genetic causes that partly or totally could explain the CP were found in 54.90% (95% CI (40.45-68.62)) of those with idiopathic CP, as a minimum estimation 1.9% (95% CI (1.00-3.47)) of the total cohort had HP.
背景/目的:慢性胰腺炎(CP)的病因学文献很少。目前的病因包括遗传疾病。我们想描述当前的病因,并确定那些具有遗传性胰腺炎(HP)、丝氨酸蛋白酶抑制剂 Kazal 型 1(SPINK1)突变和囊性纤维化跨膜电导调节因子基因(CFTR)等遗传疾病的患者,这些患者以前被认为是特发性 CP。
从丹麦国家患者登记处检索到丹麦首次诊断为 <30 岁的 CP 患者的数据。以前被认为是特发性胰腺炎的患者接受了 HP、SPINK1 和 CFTR 突变的遗传咨询和评估。
在 1980-2004 年期间,580 名 <30 岁的患者出现 CP,CP 的标准化患病率从 1980-1984 年的每 100,000 人年 11.7 增加到 2000-2004 年的每 100,000 人年 17.0(p<0.001)。在后一时期,与胆石症相关的 CP 的比值比(OR)增加,尤其是在女性中,而酒精性 CP 的 OR 随时间减少。特发性 CP 的 OR 在后一时期增加;特发性胰腺炎患者中有 50%接受了遗传重新评估;28 名患者有遗传突变,这些突变可以部分或完全解释他们的胰腺炎,其中 9 名患者有两种突变,11 名患者有 HP。
CP 的患病率,特别是在女性中,随时间推移而增加。在特发性 CP 患者中,有 54.90%(95% CI(40.45-68.62))的患者可以找到部分或完全可以解释 CP 的遗传原因,作为最低估计,总队列中有 1.9%(95% CI(1.00-3.47))的患者有 HP。