Management of primary ciliary dyskinesia/Kartagener＇s syndrome in infertile male patients and current progress in defining the underlying genetic mechanism

作     者：Yan-Wei Sha Lu Ding Ping Li 

作者机构：Reproductive Medicine Center Maternal and Child Health Hospital of Xiamen Xiamen China 

出 版 物：《Asian Journal of Andrology》 (亚洲男性学杂志（英文版）)

年 卷 期：2014年第16卷第1期

页      面：101-106页

核心收录：

学科分类：0710[理学-生物学] 07[理学] 08[工学] 080402[工学-测试计量技术及仪器] 0804[工学-仪器科学与技术] 071007[理学-遗传学] 

主　　题：assisted reproductive technology clinical diagnosis and treatment genetic mechanism Kartagener's syndrome malefertifity, primary ciliary dyskinesia 

摘      要：Kartagener＇s syndrome （KS） is an autosomal recessive genetic disease accounting for approximately 50% of the cases of primary ciliary dyskinesia （PCD）. As it is accompanied by many complications, PCD/KS severely affects the patient＇s quality of life. Therapeutic approaches for PCD/KS aim to enhance prevention, facilitate rapid definitive diagnosis, avoid misdiagnosis, maintain active treatment, control infection and postpone the development of lesions. In male patients, sperm flagella may show impairment in or complete absence of the ability to swing, which ultimately results in male infertility. Assisted reproductive technology will certainly benefit such patients. For PCD/KS patients with completely immotile sperm, intracytoplasmic sperm injection may be very important and even indispensable. Considering the number of PCD/KS susceptibility genes and mutations that are being identified, more extensive genetic screening is indispensable in patients with these diseases. Moreover, further studies into the potential molecular mechanisms of these diseases are required. In this review, we summarize the available information on various aspects of this disease in order to delineate the therapeutic objectives more clearly, and clarify the efficacy of assisted reproductive technology as a means of treatment for patients with PCD/KS-associated infertility.