Service d'Anatomie Pathologique, Pole Biologie-Pathologie, Centre Hospitalier Régional Universitaire, 29609 Brest cedex, France.
Hum Pathol. 2012 Mar;43(3):390-7. doi: 10.1016/j.humpath.2011.04.031. Epub 2011 Aug 15.
Sterility due to bilateral destruction in utero or in early infancy resulting in congenital absence of the vas deferens is the rule in male patients with cystic fibrosis. To understand the developmental pattern of this anomaly, the microscopic morphology of the male excretory system was analyzed during development and the expression of the cystic fibrosis transmembrane conductance regulator protein was explored by immunohistochemistry. We observed that cystic fibrosis fetuses had no excretory ducts agenesis or obstruction until 22 weeks of gestation. However, a focal inflammatory pattern and mucinous plugs in the oldest cystic fibrosis case suggested a disruptive mechanism. Immunolabeling of cytoplasmic epithelial cystic fibrosis transmembrane conductance regulator protein was demonstrated in all cystic fibrosis and control cases with a similar pattern of expression of the protein between age-matched controls and cystic fibrosis cases. At midgestation, an apical intensification appeared in both cystic fibrosis and control cases and was stable during the remainder of fetal life. No gradient of intensity could be detected between the different segments of the excretory tract. These findings are different from those reported in adults. The absence of any morphologic anomaly until 22 weeks of gestation, the focal destruction of the epithelial structures during the second trimester, and the chronological pattern of expression of cystic fibrosis transmembrane conductance regulator are of interest for a better understanding of the pathophysiology of this disease.
由于双侧在子宫内或婴儿早期破坏而导致的输精管先天性缺失导致的不育症是囊性纤维化男性患者的常见现象。为了了解这种异常的发育模式，我们分析了男性排泄系统在发育过程中的微观形态，并通过免疫组织化学方法探索囊性纤维化跨膜电导调节蛋白的表达。我们观察到，囊性纤维化胎儿在妊娠 22 周之前没有排泄管发育不全或阻塞。然而，在最年长的囊性纤维化病例中，局灶性炎症模式和黏液栓表明存在破坏机制。在所有囊性纤维化和对照组病例中均观察到细胞质上皮囊性纤维化跨膜电导调节蛋白的免疫标记，在年龄匹配的对照组和囊性纤维化病例之间，该蛋白的表达模式相似。在妊娠中期，囊性纤维化和对照组病例均出现了顶端增强，并且在胎儿生命的其余时间保持稳定。在排泄道的不同节段之间未检测到强度梯度。这些发现与成年患者的报告不同。在妊娠 22 周之前没有任何形态异常，在妊娠中期上皮结构的局灶性破坏，以及囊性纤维化跨膜电导调节蛋白的表达时间模式，对于更好地理解这种疾病的病理生理学具有重要意义。
