Department of Experimental and Clinical Pharmacology and Pharmacogenomics, Section of Pharmacogenomics, Eberhard-Karls-University of Tübingen, 72074 Tübingen, Germany.
Department of Experimental and Clinical Pharmacology and Pharmacogenomics, Section of Pharmacogenomics, Eberhard-Karls-University of Tübingen, 72074 Tübingen, Germany.
Pharmacol Ther. 2021 Sep;225:107841. doi: 10.1016/j.pharmthera.2021.107841. Epub 2021 Mar 23.
Ciliopathies are a family of rather diverse conditions, which have been grouped based on the finding of altered or dysfunctional cilia, potentially motile, small cellular antennae extending from the surface of postmitotic cells. Cilia-related disorders include embryonically arising conditions such as Joubert, Usher or Kartagener syndrome, but also afflictions with a postnatal or even adult onset phenotype, i.e. autosomal dominant polycystic kidney disease. The majority of ciliopathies are syndromic rather than affecting only a single organ due to cilia being found on almost any cell in the human body. Overall ciliopathies are considered rare diseases. Despite that, pharmacological research and the strive to help these patients has led to enormous therapeutic advances in the last decade. In this review we discuss new treatment options for certain ciliopathies, give an outlook on promising future therapeutic strategies, but also highlight the limitations in the development of therapeutic approaches of ciliopathies.
纤毛病是一组相当多样化的疾病，它们根据发现的改变或功能失调的纤毛而被分组，纤毛是从有丝分裂后细胞表面伸出的潜在可动的小细胞天线。与纤毛相关的疾病包括胚胎起源的疾病，如 Joubert、Usher 或 Kartagener 综合征，但也包括出生后甚至成年后发病的疾病，即常染色体显性多囊肾病。由于纤毛几乎存在于人体的任何细胞中，因此大多数纤毛病是综合征，而不是仅影响单个器官。总的来说，纤毛病被认为是罕见疾病。尽管如此，药理学研究和帮助这些患者的努力在过去十年中导致了巨大的治疗进展。在这篇综述中，我们讨论了某些纤毛病的新治疗选择，展望了有前途的未来治疗策略，但也强调了纤毛病治疗方法发展的局限性。
