Cordido Adrián, Besada-Cerecedo Lara, García-González Miguel A
Grupo de Genética y Biología del Desarrollo de las Enfermedades Renales, Laboratorio de Nefrología (n.° 11), Instituto de Investigación Sanitaria (IDIS), Complexo Hospitalario de Santiago de Compostela (CHUS), Santiago de Compostela, Spain.
Front Pediatr. 2017 Dec 18;5:279. doi: 10.3389/fped.2017.00279. eCollection 2017.
Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common genetic disorders worldwide. In recent decades, the field has undergone a revolution, starting with the identification of causal ADPKD genes, including , and the recently identified . In addition, advances defining the genetic mechanisms, protein localization and function, and the identification of numerous pathways involved in the disease process, have contributed to a better understanding of this illness. Together, this has led to a better prognosis, diagnosis, and treatment in clinical practice. In this mini review, we summarize and discuss new insights about the molecular mechanisms underlying ADPKD, including its genetics, protein function, and cellular pathways.
常染色体显性多囊肾病（ADPKD）是全球最常见的遗传性疾病之一。近几十年来，该领域经历了一场变革，始于对致病ADPKD基因的鉴定，包括[此处原文缺失具体基因名称]，以及最近鉴定出的[此处原文缺失具体基因名称]。此外，在定义遗传机制、蛋白质定位和功能以及鉴定疾病过程中涉及的众多途径方面取得的进展，有助于更好地理解这种疾病。这些共同作用使得临床实践中的预后、诊断和治疗得到了改善。在本综述中，我们总结并讨论了关于ADPKD潜在分子机制的新见解，包括其遗传学、蛋白质功能和细胞途径。
