PDF(Pubmed)
Abstract：
Primary ciliary dyskinesia (PCD) is a genetic condition affecting the structure and function of sperm flagellum and motile cilia including those in the male and female reproductive tracts. Infertility is a commonly reported feature of PCD, but there is uncertainty as to how best to counsel patients on their fertility prognosis.
This review aimed to summarize the prevalence of subfertility, possible underlying mechanisms, and the success of ART in men and women with PCD. The efficacy of ART in this patient group is relatively unknown and, hence, the management of infertility in PCD patients remains a challenge. There are no previous published or registered systematic reviews of fertility outcomes in PCD.
Systematic literature searches were performed in Medline, Embase, Cochrane Library, and PubMed electronic databases to identify publications between 1964 and 2022 reporting fertility outcomes in men and women with PCD. Publications were excluded if they reported only animal studies, where gender was not specified or where subjects had a medical co-morbidity also known to impact fertility. Quality of evidence was assessed by critical appraisal and application of an appraisal tool for cross-sectional studies. The primary outcomes were natural conception in men and women with PCD, and conception following ART in men and women with PCD.
A total of 1565 publications were identified, and 108 publications were included after screening by two independent researchers. The quality of available evidence was low. The exact prevalence of subfertility in PCD is unclear but appears to be higher in men (up to 83% affected) compared to women (up to 61% affected). Variation in the prevalence of subfertility was observed between geographic populations which may be explained by differences in underlying genotype and cilia function. Limited evidence suggests subfertility in affected individuals is likely caused by abnormal cilia motion in the fallopian tubes, endometrium and efferent ductules, and dysmotile sperm. Some men and women with PCD benefited from ART, which suggests its use should be considered in the management of subfertility in this patient group. Further epidemiological and controlled studies are needed to determine the predictors of fertility and optimal management in this patient group.
It is important that patients with PCD receive evidence-based counselling about the potential impact of their condition on their fertility prognosis and what management options may be available to them if affected. Understanding the pathophysiology and optimal management of subfertility in PCD will increase our understanding of the role of cilia and the impact of wider secondary ciliopathies on reproduction.
This review aimed to summarize the prevalence of subfertility, possible underlying mechanisms, and the success of ART in men and women with PCD. The efficacy of ART in this patient group is relatively unknown and, hence, the management of infertility in PCD patients remains a challenge. There are no previous published or registered systematic reviews of fertility outcomes in PCD.
Systematic literature searches were performed in Medline, Embase, Cochrane Library, and PubMed electronic databases to identify publications between 1964 and 2022 reporting fertility outcomes in men and women with PCD. Publications were excluded if they reported only animal studies, where gender was not specified or where subjects had a medical co-morbidity also known to impact fertility. Quality of evidence was assessed by critical appraisal and application of an appraisal tool for cross-sectional studies. The primary outcomes were natural conception in men and women with PCD, and conception following ART in men and women with PCD.
A total of 1565 publications were identified, and 108 publications were included after screening by two independent researchers. The quality of available evidence was low. The exact prevalence of subfertility in PCD is unclear but appears to be higher in men (up to 83% affected) compared to women (up to 61% affected). Variation in the prevalence of subfertility was observed between geographic populations which may be explained by differences in underlying genotype and cilia function. Limited evidence suggests subfertility in affected individuals is likely caused by abnormal cilia motion in the fallopian tubes, endometrium and efferent ductules, and dysmotile sperm. Some men and women with PCD benefited from ART, which suggests its use should be considered in the management of subfertility in this patient group. Further epidemiological and controlled studies are needed to determine the predictors of fertility and optimal management in this patient group.
It is important that patients with PCD receive evidence-based counselling about the potential impact of their condition on their fertility prognosis and what management options may be available to them if affected. Understanding the pathophysiology and optimal management of subfertility in PCD will increase our understanding of the role of cilia and the impact of wider secondary ciliopathies on reproduction.
摘要：
背景：原发性纤毛运动障碍（PCD）是一种遗传病，影响精子鞭毛和活动纤毛的结构和功能，包括雄性和雌性生殖道中的纤毛。不孕症是PCD的一个普遍报道的特征，但是如何最好地指导患者的生育预后存在不确定性。
目的：这篇综述旨在总结低生育率的患病率，可能的潜在机制，以及ART在PCD男性和女性中的成功。ART在该患者组中的疗效相对未知，因此，PCD患者不孕症的治疗仍是一项挑战.以前没有发表或注册的PCD生育结局的系统评价。
方法：在Medline进行了系统的文献检索，Embase,科克伦图书馆,和PubMed电子数据库，以确定1964年至2022年报告PCD男性和女性生育结果的出版物。如果出版物只报告动物研究，则将其排除在外，在没有具体说明性别或受试者有已知影响生育能力的医学合并症的情况下.通过批判性评估和横断面研究评估工具的应用来评估证据质量。主要结果是PCD男性和女性的自然受孕，以及PCD男性和女性接受ART后的受孕。
结果：共确定了1565种出版物，在由两名独立研究人员筛选后,纳入了108篇出版物.现有证据的质量很低。PCD中低生育力的确切患病率尚不清楚，但男性（受影响高达83％）似乎高于女性（受影响高达61％）。在地理人群之间观察到低生育力患病率的变化，这可以通过潜在的基因型和纤毛功能的差异来解释。有限的证据表明，受影响个体的不育可能是由输卵管纤毛运动异常引起的，子宫内膜和流出道，和运动障碍的精子。一些患有PCD的男性和女性受益于ART，这表明在该患者组中的不孕治疗中应考虑其使用。需要进一步的流行病学和对照研究来确定该患者组的生育力和最佳管理的预测因素。
结论：重要的是，PCD患者接受循证咨询，了解其病情对其生育预后的潜在影响，以及如果受影响，可能有哪些管理选择。了解PCD中不育的病理生理学和最佳管理将增加我们对纤毛的作用以及更广泛的继发性纤毛病对生殖的影响的理解。
目的：这篇综述旨在总结低生育率的患病率，可能的潜在机制，以及ART在PCD男性和女性中的成功。ART在该患者组中的疗效相对未知，因此，PCD患者不孕症的治疗仍是一项挑战.以前没有发表或注册的PCD生育结局的系统评价。
方法：在Medline进行了系统的文献检索，Embase,科克伦图书馆,和PubMed电子数据库，以确定1964年至2022年报告PCD男性和女性生育结果的出版物。如果出版物只报告动物研究，则将其排除在外，在没有具体说明性别或受试者有已知影响生育能力的医学合并症的情况下.通过批判性评估和横断面研究评估工具的应用来评估证据质量。主要结果是PCD男性和女性的自然受孕，以及PCD男性和女性接受ART后的受孕。
结果：共确定了1565种出版物，在由两名独立研究人员筛选后,纳入了108篇出版物.现有证据的质量很低。PCD中低生育力的确切患病率尚不清楚，但男性（受影响高达83％）似乎高于女性（受影响高达61％）。在地理人群之间观察到低生育力患病率的变化，这可以通过潜在的基因型和纤毛功能的差异来解释。有限的证据表明，受影响个体的不育可能是由输卵管纤毛运动异常引起的，子宫内膜和流出道，和运动障碍的精子。一些患有PCD的男性和女性受益于ART，这表明在该患者组中的不孕治疗中应考虑其使用。需要进一步的流行病学和对照研究来确定该患者组的生育力和最佳管理的预测因素。
结论：重要的是，PCD患者接受循证咨询，了解其病情对其生育预后的潜在影响，以及如果受影响，可能有哪些管理选择。了解PCD中不育的病理生理学和最佳管理将增加我们对纤毛的作用以及更广泛的继发性纤毛病对生殖的影响的理解。
