Guarnaroli Matteo, Padoan Flavia, Fava Cristiano, Benetti Maria Giulia, Brugnara Milena, Pietrobelli Angelo, Piacentini Giorgio, Pecoraro Luca
Pediatric Unit, Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, 37126 Verona, Italy.
General Medicine and Hypertension Unit, Department of Medicine, University of Verona, 37126 Verona, Italy.
Biomedicines. 2024 Aug 12;12(8):1823. doi: 10.3390/biomedicines12081823.
Autosomal dominant polycystic kidney disease (ADPKD) is a hereditary disorder characterized by the formation of numerous fluid-filled cysts in the kidneys, leading to progressive renal failure and various extrarenal complications, including hypertension. This review explores the genetic basis of ADPKD, including emerging evidence of epigenetic mechanisms in modulating gene expression and disease progression in ADPKD. Furthermore, it proposes to examine the pathological characteristics of this condition at the nephrological, cardiovascular, nutritional, and psychological levels, emphasizing that the follow-up of patients with ADPKD should be multidisciplinary from a young pediatric age.
常染色体显性多囊肾病(ADPKD)是一种遗传性疾病,其特征是在肾脏中形成大量充满液体的囊肿,导致进行性肾衰竭和各种肾外并发症,包括高血压。本综述探讨了ADPKD的遗传基础,包括表观遗传机制在调节ADPKD基因表达和疾病进展方面的新证据。此外,还建议从肾脏病学、心血管、营养和心理学层面研究该疾病的病理特征,强调对ADPKD患者的随访应从儿童早期就进行多学科管理。