Translational research approaches to study pediatric polycystic kidney disease.

IF 2.4 Q1 PEDIATRICS Molecular and cellular pediatrics Pub Date : 2021-12-09 DOI:10.1186/s40348-021-00131-x
Max Christoph Liebau, Djalila Mekahli
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Abstract

Polycystic kidney diseases (PKD) are severe forms of genetic kidney disorders. The two main types of PKD are autosomal recessive and autosomal dominant PKD (ARPKD, ADPKD). While ARPKD typically is a disorder of early childhood, patients with ADPKD often remain pauci-symptomatic until adulthood even though formation of cysts in the kidney already begins in children. There is clinical and genetic overlap between both entities with very variable clinical courses. Subgroups of very early onset ADPKD may for example clinically resemble ARPKD. The basis of the clinical variability in both forms of PKD is not well understood and there are also limited prediction markers for disease progression for daily clinical life or surrogate endpoints for clinical trials in ARPKD or early ADPKD.As targeted therapeutic approaches to slow disease progression in PKD are emerging, it is becoming more important to reliably identify patients at risk for rapid progression as they might benefit from early therapy. Over the past years regional, national and international data collections to jointly analyze the clinical courses of PKD patients have been set up. The clinical observations are complemented by genetic studies and biorepositories as well as basic science approaches to elucidate the underlying molecular mechanisms in the PKD field. These approaches may serve as a basis for the development of novel therapeutic interventions in specific subgroups of patients. In this article we summarize some of the recent developments in the field with a focus on kidney involvement in PKD during childhood and adolescence and findings obtained in pediatric cohorts.

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儿童多囊肾病的转化研究方法
多囊肾病(PKD)是遗传性肾脏疾病的严重形式。PKD的两种主要类型是常染色体隐性和常染色体显性PKD (ARPKD, ADPKD)。虽然ARPKD通常是儿童早期的一种疾病,但患有ADPKD的患者通常直到成年都没有症状,即使儿童肾脏囊肿已经开始形成。有临床和遗传重叠之间的实体非常不同的临床过程。例如,早发性ADPKD的亚群在临床上可能与ARPKD相似。两种形式PKD的临床变异性的基础尚不清楚,而且在ARPKD或早期ADPKD的临床试验中,日常临床生活中疾病进展的预测标志物或替代终点也有限。随着减缓PKD疾病进展的靶向治疗方法的出现,可靠地识别有快速进展风险的患者变得越来越重要,因为他们可能从早期治疗中受益。在过去的几年里,已经建立了区域、国家和国际的数据收集,共同分析PKD患者的临床病程。临床观察是由遗传研究和生物库以及基础科学方法来阐明PKD领域潜在的分子机制的补充。这些方法可以作为开发针对特定亚组患者的新型治疗干预措施的基础。在这篇文章中,我们总结了该领域的一些最新进展,重点是儿童和青少年时期PKD的肾脏受累以及在儿科队列中获得的发现。
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