Halbert S A, Patton D L, Zarutskie P W, Soules M R
Department of Obstetrics and Gynecology, University of Washington, Seattle 98195-6460, USA.
Hum Reprod. 1997 Jan;12(1):55-8. doi: 10.1093/humrep/12.1.55.
In Kartagener's syndrome (KS), primary defects of the ciliary axoneme cause dyskinetic ciliary motion. Because ciliary motion is an important factor in normal ovum transport, ciliary dyskinesia may cause infertility. On the other hand, the existence of some ciliary activity, albeit abnormal, may account for fertility in some women with KS. In this case study, an infertile woman diagnosed with KS had normal results in all usual infertility tests. Biopsies of tubal mucosa were obtained at laparoscopy for ovum recovery during an in-vitro fertilization cycle. Ciliary activity, measured by laser light-scattering spectroscopy, was detected in all tubal specimens; however the majority of regions sampled showed no activity. In active regions, beat frequency ranged from 5 to 10 Hz, approximately 30% of normal. Electron microscopy showed similar morphological defects in both tubal and nasal mucosa. The number of cilia per cell was approximately 20% of normal. The major ultrastructural abnormality of cilia was an absence of the central microtubules. The only demonstrable explanation for this patient's infertility was primary ciliary dyskinesia associated with KS.
在卡塔格内综合征(KS)中,纤毛轴丝的原发性缺陷导致纤毛运动障碍。由于纤毛运动是正常卵子运输的重要因素,纤毛运动障碍可能导致不孕。另一方面,尽管纤毛活动存在异常,但某些KS女性仍具有生育能力可能与此有关。在本病例研究中,一名被诊断为KS的不孕女性在所有常规不孕检查中结果均正常。在体外受精周期中,通过腹腔镜获取输卵管黏膜活检组织以进行卵子回收。通过激光散射光谱法测量,在所有输卵管标本中均检测到纤毛活动;然而,大多数采样区域未显示活动。在活跃区域,搏动频率为5至10赫兹,约为正常频率的30%。电子显微镜检查显示输卵管和鼻黏膜存在相似的形态学缺陷。每个细胞的纤毛数量约为正常数量的20%。纤毛的主要超微结构异常是中央微管缺失。该患者不孕的唯一可证实的原因是与KS相关的原发性纤毛运动障碍。