The changing face of the exocrine pancreas in cystic fibrosis: the correlation between pancreatic status, pancreatitis and cystic fibrosis genotype
The changing face of the exocrine pancreas in cystic fibrosis: the correlation between pancreatic status, pancreatitis and cystic fibrosis genotype
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DOI：
10.1097/meg.0b013e3282f36d04
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发表时间：
2008-03-01
影响因子：
2.1
通讯作者：
Yahav, Yaakov
中科院分区：
文献类型：
--
作者：
Augarten, Arie;Ben Tov, Amir;Yahav, Yaakov
目的 本研究的目的是确定以色列整个囊性纤维化（CF）人群当前的胰腺状况，分析胰腺充足（PS）患者的临床特征，并表征胰腺状况、胰腺炎和 CIF 基因型之间的相关性。 方法 以色列 CF 数据库包括 505 名患者。根据粪便胰腺弹性蛋白酶水平或脂肪吸收系数结果，这些患者被定义为 PS 或不足。根据突变被分类为严重（Delta F508、W1282X、G542X、S549R、N1303K、Q359K/T360K、405 + 1G 和 1717）或轻度/变异（3849 + 10 kb、D1152H、G85E、I1234V、R334W 和 5T）。携带这些突变的患者的疾病严重程度。记录诊断时的年龄、出现症状、汗液氯化物浓度、胰腺炎的发生、糖尿病的发生和肝脏疾病。结果 139 例 (27.5%) CF 患者为 PS。没有人携带两种与严重疾病相关的突变。超过三分之一 (34%) 的出汗测试正常或处于临界水平；这139名患者中有20名患有胰腺炎（14.3%），但366名胰腺功能不全的患者中没有一人患有胰腺炎。四名最初的 PS 患者出现胰腺功能不全：其中三名患者在发生数次胰腺炎后发生转变。 35 名接受测试的 PS 患者的鼻电位差异均为病理性的。没有人患有糖尿病或肝病。 结论 大量 CF 患者患有 PS。它们都携带至少一种轻度突变，能够产生足够量的正常 mRNA 以维持外分泌胰腺功能。胰腺炎仅发生在患有 PS 的 CF 患者中。这些患者有进展为胰腺功能不全的风险。
Objectives The aims of this study were to determine the current pancreatic status of the entire cystic fibrosis (CF) population of Israel, to analyze the clinical characteristics of the pancreatic sufficient (PS) patients, and to characterize the correlation between pancreatic status, pancreatitis, and CIF genotype.Methods The Israeli CF database includes 505 patients. These patients were defined as being PS or insufficient according to their fecal pancreatic elastase level or by coefficient fat absorption findings. Mutations were categorized as severe (Delta F508, W1282X, G542X, S549R, N1303K, Q359K/T360K, 405 + 1G, and 1717) or mild/variable (3849 + 10 kb, D1152H, G85E, I1234V, R334W, and 5T) based on disease severity in patients carrying these mutations. Age at diagnosis, presenting symptoms, sweat-chloride concentrations, occurrence of pancreatitis, presence of diabetes, and liver disease were recorded.Results One hundred and thirty-nine (27.5%) of the CF patients were PS. None carried two mutations associated with severe disease. Over one third (34%) had normal or borderline sweat tests; 20 of these 139 patients had pancreatitis (14.3%) but none of the 366 pancreatic insufficient patients had it. Four initially PS patients became pancreatic insufficient: conversion followed several events of pancreatitis in three of them. Nasal potential differences were all pathological in 35 tested PS patients. None had either diabetes or liver disease.Conclusions A substantial number of CF patients are PS. All of them carry at least one mild mutation enabling production of a sufficient amount of normal mRNA to maintain exocrine pancreatic function. Pancreatitis occurs only in CF patients who are PS. These patients are at risk of progressing to pancreatic insufficiency.