Cai Hong-cai, Shang Xue-jun, Huang Yu-feng
Zhonghua Nan Ke Xue. 2015 Nov;21(11):1020-5.
Autosomal dominant polycystic kidney disease (ADPKD) is a most common inherited renal disease, about 50% with a family history, although the exact etiology not yet clear. To date, ADPKD, a multisystem disorder without effective preventive and therapeutic means, has been shown to be detrimental to human health. Recent studies show that severe oligoasthenozoospermia, necrospermia, immotile sperm, azoospermia, epididymal cyst, seminal vesicle cyst, and ejaculatory duct cyst found in male ADPKD patients may lead to male infertility, though the specific mechanisms remain unknown. Structural anomaly of spermatozoa, defect of polycystin, mutation of PKD genes, and micro-deletion of the AZF gene could be the reasons for the higher incidence of abnormal semen quality in male ADPKD patients. Assisted reproductive techniques can increase the chances of pregnancy, whereas the health of the offspring should be taken into consideration. This article presents an overview of reproductive issues concerning infertile male ADPKD patients from the perspective of the morbidity, pathophysiological mechanism, diagnosis, and management of the disease.
常染色体显性多囊肾病（ADPKD）是一种最常见的遗传性肾病，约50%的患者有家族病史，尽管确切病因尚不清楚。迄今为止，ADPKD作为一种尚无有效预防和治疗手段的多系统疾病，已被证明对人类健康有害。最近的研究表明，男性ADPKD患者中出现的严重少弱畸精子症、死精子症、精子不动症、无精子症、附睾囊肿、精囊囊肿和射精管囊肿可能导致男性不育，但其具体机制尚不清楚。精子结构异常、多囊蛋白缺陷、PKD基因突变以及AZF基因微缺失可能是男性ADPKD患者精液质量异常发生率较高的原因。辅助生殖技术可以增加怀孕几率，然而，后代的健康也应予以考虑。本文从疾病的发病率、病理生理机制、诊断和管理等方面，对男性不育型ADPKD患者的生殖问题进行综述。
