Gosden C M, Gosden J R
Lancet. 1984 Sep 8;2(8402):541-6. doi: 10.1016/s0140-6736(84)90765-7.
Ultrastructural and microvillous enzyme (MVE) histochemical studies of fetuses with cystic fibrosis (CF) and trisomies 13 and 18 identified features in CF which differed from the abnormalities in trisomies 13 and 18. The principal abnormalities in CF were in the tight (occluding) junctions and intracellular organelles, particularly the golgi and mitochondria, of the epithelial cells of the pancreas, respiratory system, intestine, and gallbladder. Abnormalities of amniotic fluid MVE levels in CF and trisomy 13 occur because of disruption of the pathways by which the MVE reach the amniotic fluid. Trisomy 18 shows hypoplasia and deficiency of epithelial cell microvilli. It is postulated that the basic defect in CF is due to the deficiency of an enzyme that cleaves the Arg-Asp peptide bond in cholecystokinin to produce the active octapeptide CCK-8, which normally stimulates exocrine secretion, especially in pancreas, gallbladder, and intestine, and potentiates the action of other gastrointestinal hormones.
对患有囊性纤维化（CF）以及13三体和18三体的胎儿进行的超微结构和微绒毛酶（MVE）组织化学研究发现，CF中的特征与13三体和18三体中的异常不同。CF的主要异常在于胰腺、呼吸系统、肠道和胆囊上皮细胞的紧密（封闭）连接和细胞内细胞器，特别是高尔基体和线粒体。CF和13三体中羊水MVE水平异常是由于MVE到达羊水的途径受到破坏。18三体显示上皮细胞微绒毛发育不全和缺乏。据推测，CF的基本缺陷是由于一种酶的缺乏，该酶可切割胆囊收缩素中的精氨酸-天冬氨酸肽键以产生活性八肽CCK-8，CCK-8通常刺激外分泌，特别是在胰腺、胆囊和肠道中，并增强其他胃肠激素的作用。
