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囊性纤维化是一种常染色体隐性遗传疾病,由于囊性纤维化跨膜转导调节因子突变所致,该因子是一种环磷酸腺苷(c-AMP)调控的阴离子通道蛋白。囊性纤维化是一种累及全身的系统性疾病,主要累及呼吸系统、内分泌系统、消化系统、免疫系统、皮肤和泌尿生殖系统。在生殖系统中,本病突出表现为不育症,有超过96%的患者表现为先天性双侧输精管缺如。最近更多的研究表明囊性纤维化跨膜转导调节因子的突变不仅可以导致输精管发育缺陷,还可能影响精子发生及其功能等多个环节,降低患者的生育力。
Cystic fibrosis is an autosomal recessive disease caused by a cystic fibrosis transmembrane conductance regulator that is an anion channel protein that is regulated by cyclic AMP (c-AMP). Cystic fibrosis is a systemic disease that affects the whole body, mainly involving the respiratory system, endocrine system, digestive system, immune system, skin and genitourinary system. In the reproductive system, the disease is highlighted as infertility, more than 96% of patients showed congenital absence of bilateral vas deferens. More recent studies have shown that mutations in the transcytosis regulatory factor of cystic fibrosis can not only lead to defects in vas deferens development, but also affect sperm production and its function, and reduce the fertility of patients.