Limitations and opportunities in the pharmacotherapy of ciliopathies.
Limitations and opportunities in the pharmacotherapy of ciliopathies.
复制标题
DOI：
10.1016/j.pharmthera.2021.107841
复制
发表时间：
2021-03
影响因子：
13.5
通讯作者：
Max Duong Phu;Stefan Bross;M. Burkhalter;M. Philipp
中科院分区：
文献类型：
--
作者：
Max Duong Phu;Stefan Bross;M. Burkhalter;M. Philipp
纤毛病是一个相当多样化的疾病家族，根据纤毛改变或功能障碍的发现将其分组，纤毛是从有丝分裂后细胞表面延伸的潜在能动的小细胞触角。纤毛相关疾病包括胚胎发生的病症，例如Joubert、Usher或Kartagener综合征，但也包括具有出生后或甚至成人发病表型的痛苦，即常染色体显性多囊肾病。大多数纤毛病是综合征，而不是只影响一个单一的器官，因为纤毛被发现在人体的几乎任何细胞。总体上，纤毛病变被认为是罕见疾病。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取得了巨大的治疗进展。在这篇综述中，我们讨论了新的治疗方案，某些纤毛病变，展望了未来有前途的治疗策略，但也强调了纤毛病变的治疗方法的发展的局限性。
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.