Ornoy A, Arnon J, Katznelson D, Granat M, Caspi B, Chemke J
Laboratory of Teratology, Hebrew University-Hadassah Medical School, Jerusalem, Israel.
Am J Med Genet. 1987 Dec;28(4):935-47. doi: 10.1002/ajmg.1320280420.
Prenatal diagnosis of cystic fibrosis is presently based on the determination of microvillar enzyme activities in the amniotic fluid. However, there seems to be no accurate means for confirming the diagnosis of the aborted fetus. During the past year we performed pathological and histopathological examinations on 7 fetuses diagnosed in the second trimester of pregnancy to be affected by cystic fibrosis and compared them with 4 control age-matched fetuses. Glycol-methacrylate-embedded 2-3-mu thick sections of the pancreas, lungs, bronchial tree, and GI tract were stained with toluidine blue, H&E, PAS, and AB-PAS, and examined microscopically. In the controls, PAS-positive granules were dispersed throughout the cytoplasm of most pancreatic acinar and tracheal submucosal glandular cells. In the affected fetuses 2 distinct groups were identified. In one group of 4 fetuses, the pancreatic and tracheal submucosal glands were dilated and contained a weak PAS-positive material. The glandular epithelial cells had very little PAS-positive granules. In this group, the tracheal epithelium was either atrophic or metaplastic and devoid of microvilli. In the second group of 3 fetuses there was less dilation of the glands, and both pancreatic acinar cells and tracheal submucosal glandular epithelial cells contained few PAS-positive granules, which were confined mainly to a perinuclear location. The tracheal epithelial cells contained few microvilli which, when present, appeared thicker and shorter as compared to controls. We feel that histochemical evaluation of pancreatic and bronchial tissue may be of help in the pathological confirmation of cystic fibrosis in human fetuses where the results of the biochemical studies are suggestive of the disease.
目前，囊性纤维化的产前诊断基于羊水微绒毛酶活性的测定。然而，似乎没有准确的方法来确诊流产胎儿是否患有该病。在过去一年中，我们对7例在妊娠中期被诊断为患有囊性纤维化的胎儿进行了病理和组织病理学检查，并将其与4例年龄匹配的对照胎儿进行了比较。用乙二醇甲基丙烯酸酯包埋胰腺、肺、支气管树和胃肠道，制成2 - 3微米厚的切片，用甲苯胺蓝、苏木精和伊红、过碘酸雪夫染色法（PAS）以及AB - PAS染色法进行染色，并进行显微镜检查。在对照组中，PAS阳性颗粒分散在大多数胰腺腺泡和气管黏膜下腺细胞的细胞质中。在患病胎儿中，可分为两个不同的组。在一组4例胎儿中，胰腺和气管黏膜下腺扩张，含有弱阳性PAS物质。腺上皮细胞几乎没有PAS阳性颗粒。在这一组中，气管上皮要么萎缩要么化生，且无微绒毛。在另一组3例胎儿中，腺体扩张程度较轻，胰腺腺泡细胞和气管黏膜下腺上皮细胞均含有少量PAS阳性颗粒，主要局限于核周位置。气管上皮细胞含有的微绒毛较少，与对照组相比，这些微绒毛更粗且更短。我们认为，对于生化研究结果提示患有该病的人类胎儿，胰腺和支气管组织的组织化学评估可能有助于囊性纤维化的病理确诊。
