Durie P R
Department of Paediatrics, University of Toronto, Canada.
Neth J Med. 1992 Oct;41(3-4):97-100.
Pancreatic insufficiency occurs in the majority of cystic fibrosis (CF) patients. Deficient fluid secretion is apparent at all levels of pancreatic function and leads to pancreatic protein hypersecretion which may in turn result in protein precipitation and ductal plugging. An impaired chloride and bicarbonate secretion appears to account for this fluid secretion deficit. A minority of CF patients have sufficient preservation of pancreatic function to prevent steatorrhoea. These patients are diagnosed at a later age, experience milder symptoms and have a far superior overall prognosis than patients with pancreatic insufficiency (PI). Patients who are homozygous for delta F508 have a high frequency of PI (99%), whereas patients with other genotypes are more often pancreatic sufficient (PS). In 538 patients with CF DNA analysis was performed and related with pancreatic function. The most striking observation was that nearly all given genotypes were associated with either PI or PS and not with both. In addition, we were able to classify mutations as "severe" and "mild" with respect to pancreatic function.
大多数囊性纤维化（CF）患者会出现胰腺功能不全。在胰腺功能的各个水平上，液体分泌不足都很明显，并导致胰腺蛋白分泌过多，这反过来可能导致蛋白质沉淀和导管堵塞。氯化物和碳酸氢盐分泌受损似乎是造成这种液体分泌不足的原因。少数CF患者胰腺功能保存良好，可预防脂肪泻。这些患者诊断年龄较晚，症状较轻，总体预后远优于胰腺功能不全（PI）患者。ΔF508纯合子患者PI的发生率很高（99%），而其他基因型患者胰腺功能正常（PS）更为常见。对538例CF患者进行了DNA分析，并将其与胰腺功能相关联。最显著的观察结果是，几乎所有给定的基因型都与PI或PS相关，而非两者兼有。此外，我们能够根据胰腺功能将突变分为“严重”和“轻度”。
