Cilia and flagella are ancient, evolutionarily conserved organelles that project from cell surfaces to perform diverse biological roles, including whole-cell locomotion; movement of fluid; chemo-, mechano-, and photosensation; and sexual reproduction. Consistent with their stringent evolutionary conservation, defects in cilia are associated with a range of human diseases, such as primary ciliary dyskinesia, hydrocephalus, polycystic liver and kidney disease, and some forms of retinal degeneration. Recent evidence indicates that ciliary defects can lead to a broader set of developmental and adult phenotypes, with mutations in ciliary proteins now associated with nephronophthisis, Bardet-Biedl syndrome, Alstrom syndrome, and Meckel-Gruber syndrome. The molecular data linking seemingly unrelated clinical entities are beginning to highlight a common theme, where defects in ciliary structure and function can lead to a predictable phenotypic pattern that has potentially predictive and therapeutic value.

中文翻译：

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纤毛病：一类新兴的人类遗传疾病。

纤毛和鞭毛是古老的、进化上保守的细胞器，它们从细胞表面伸出，发挥多种生物学作用，包括全细胞运动；流体的运动；化学、机械和光敏；和有性生殖。与其严格的进化保守相一致，纤毛缺陷与一系列人类疾病有关，例如原发性纤毛运动障碍、脑积水、多囊肝和肾病，以及某些形式的视网膜变性。最近的证据表明，纤毛缺陷可导致更广泛的发育和成人表型，纤毛蛋白突变现在与肾痨、Bardet-Biedl 综合征、Alstrom 综合征和 Meckel-Gruber 综合征相关。