Department of Pediatrics, University Hospital of Cologne, Cologne, Germany.
Pediatr Nephrol. 2013 Sep;28(9):1771-83. doi: 10.1007/s00467-012-2370-y. Epub 2012 Dec 14.
Inherited cystic kidney diseases, including autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD), are the most common monogenetic causes of end-stage renal disease (ESRD) in children and adults. While ARPKD is a rare and usually severe pediatric disease, the more common ADPKD typically shows a slowly progressive course leading to ESRD in adulthood. At the present time there is no established disease-modifying treatment for either ARPKD or ADPKD. Various therapeutic approaches are currently under investigation, such as V2 receptor antagonists, somatostatins, and mTOR inhibitors. Renal function remains stable for decades in ADPKD, and thus clinically meaningful surrogate markers to assess therapeutic efficacy are needed. Various studies have pointed out that total kidney volume (TKV) is a potential surrogate parameter for disease severity in ADPKD. Recent trials have therefore measured TKV by magnet resonance imaging (MRI) to monitor and to predict disease progression. Here, we discuss novel insights on polycystic kidney disease (PKD), the value of MRI, and the measurement of TKV in the diagnosis and follow-up of PKD, as well as novel emerging therapeutic strategies for ADPKD.
遗传性囊性肾病，包括常染色体显性多囊肾病（ADPKD）和常染色体隐性多囊肾病（ARPKD），是儿童和成人终末期肾病（ESRD）最常见的单基因病因。虽然 ARPKD 是一种罕见且通常严重的儿科疾病，但更为常见的 ADPKD 通常表现为缓慢进展的病程，导致成年期 ESRD。目前，ARPKD 和 ADPKD 均没有确立的疾病修饰治疗方法。目前正在研究各种治疗方法，例如 V2 受体拮抗剂、生长抑素和 mTOR 抑制剂。ADPKD 的肾功能在数十年内保持稳定，因此需要评估治疗效果的有临床意义的替代标志物。多项研究指出，总肾体积（TKV）是 ADPKD 疾病严重程度的潜在替代参数。最近的试验因此通过磁共振成像（MRI）测量 TKV 以监测和预测疾病进展。在这里，我们讨论了 PKD 的新见解、MRI 的价值以及 TKV 在 PKD 的诊断和随访中的测量，以及 ADPKD 的新出现的治疗策略。
