PDF(Pubmed)
Abstract：
Obesity-related ciliopathies, as a group of ciliopathies including Alström Syndrome and Bardet-Biedl Syndrome, exhibit distinct genetic and phenotypic variability. The understanding of these diseases is highly significant for understanding the functions of primary cilia in the human body, particularly regarding the relationship between obesity and primary cilia. The diagnosis of these diseases primarily relies on clinical presentation and genetic testing. However, there is a significant lack of research on biomarkers to elucidate the variability in clinical manifestations, disease progression, prognosis, and treatment responses. Through an extensive literature review, the paper focuses on obesity-related ciliopathies, reviewing the advancements in the field and highlighting the potential roles of biomarkers in the clinical presentation, diagnosis, and prognosis of these diseases.
摘要：
肥胖相关的纤毛病，作为一组纤毛病变，包括Alström综合征和Bardet-Biedl综合征，表现出明显的遗传和表型变异性。了解这些疾病对于了解初级纤毛在人体内的功能非常重要，特别是关于肥胖和初级纤毛之间的关系。这些疾病的诊断主要依赖于临床表现和基因检测。然而,有一个显著的缺乏研究的生物标志物来阐明的变异性的临床表现，疾病进展,预后,和治疗反应。通过广泛的文献综述，这篇论文的重点是肥胖相关的纤毛病，回顾该领域的进展，并强调生物标志物在临床表现中的潜在作用，诊断,以及这些疾病的预后。
