Rizk Dana, Chapman Arlene
Emory School of Medicine, VA Medical Center, Decatur, GA 30033, USA.
Pediatr Nephrol. 2008 Jul;23(7):1029-36. doi: 10.1007/s00467-007-0706-9. Epub 2008 Feb 8.
Polycystic kidney disease (PKD) is the most common inherited renal disorder. Patients with PKD remain clinically asymptomatic for decades, while significant anatomic and physiologic systemic changes take place. Sequencing of the responsible genes and identification of their protein products have significantly expanded our understanding of the pathophysiology of PKD. The molecular basis for cystogenesis is being unraveled, leading to new targets for therapy and giving hope to millions of people suffering from PKD. This has direct implications for children with PKD with regard to screening for the disease and identification of high-risk individuals. In this article we provide a review of the clinical manifestations in children with autosomal dominant polycystic kidney disease (ADPKD), the genetic and molecular basis for the disease, and a concise review of potential therapies being evaluated.
多囊肾病(PKD)是最常见的遗传性肾脏疾病。PKD患者在数十年内临床上无症状,而在此期间会发生显著的解剖学和生理学全身变化。对致病基因进行测序并鉴定其蛋白质产物,极大地扩展了我们对PKD病理生理学的理解。囊肿形成的分子基础正在被揭示,这带来了新的治疗靶点,也给数百万患有PKD的人带来了希望。这对于患有PKD的儿童在疾病筛查和高危个体识别方面具有直接影响。在本文中,我们综述了常染色体显性多囊肾病(ADPKD)患儿的临床表现、该疾病的遗传和分子基础,并简要综述了正在评估的潜在治疗方法。