肾囊性疾病和纤毛病

L. Rees, N. Webb, D. Bockenhauer, M. Punaro
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摘要

遗传性肾囊性疾病包括一系列疾病,其典型特征是所谓的纤毛功能障碍。这些毛发状的细胞附属物参与了许多细胞信号传递过程。在发育过程中,纤毛对左右轴的发育和细胞极性的建立起着重要的作用。因此,根据潜在纤毛缺陷的具体性质,肾囊性疾病可与多种其他器官表现相关,包括先天性心脏病、视网膜病变、多指畸形和肝脏异常,如导管板畸形。根据这些症状的聚类,指定了具体的临床综合征,如肾肾病、Bardet-Biedl综合征、Joubert综合征和各种形式的多囊肾病。随后的遗传学研究表明,这些临床差异并不一定与潜在的遗传改变相一致,因此,例如,最初与Joubert综合征相关的基因可能表现为常染色体隐性多囊肾病。因此,确定遗传原因可以告知临床管理评估潜在累及的器官表现。
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Renal cystic diseases and ciliopathies
Inherited renal cystic diseases comprise a spectrum of disorders that are typically characterized by dysfunction of the so-called cilia. These hair-like cellular appendages are involved in numerous cellular signalling processes. During development, cilia are important for the development of the left–right axis and for the establishment of cell polarity. Consequently, depending on the specific nature of the underlying ciliary defect, renal cystic diseases can be associated with a large spectrum of other organ manifestations, including congenital heart disease, retinopathy, polydactyly, and hepatic abnormalities, such as ductal plate malformation. Based on clustering of such symptoms, specific clinical syndromes, such as nephronophthisis, Bardet–Biedl syndrome, Joubert syndrome, and the various forms of polycystic kidney diseases, have been assigned. Subsequent genetic investigations have shown that these clinical distinctions are not necessarily consistent with the underlying genetic alterations, so that, for example, genes initially associated with Joubert syndrome can phenocopy autosomal recessive polycystic kidney disease. Thus, identification of the genetic cause can inform the clinical management to assess for potentially involved organ manifestations.
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