Department of Pediatrics, University Hospital of Cologne and Faculty of Medicine, University of Cologne, Cologne, Germany.
Department of Pediatric Imaging, Jeanne de Flandre Hospital, Lille University Hospitals, Lille Cedex, France.
Nephrol Dial Transplant. 2022 Nov 23;37(12):2351-2362. doi: 10.1093/ndt/gfac207.
Kidney dysplasia is one of the most frequent causes of chronic kidney failure in children. While dysplasia is a histological diagnosis, the term 'kidney dysplasia' is frequently used in daily clinical life without histopathological confirmation. Clinical parameters of kidney dysplasia have not been clearly defined, leading to imprecise communication amongst healthcare professionals and patients. This lack of consensus hampers precise disease understanding and the development of specific therapies. Based on a structured literature search, we here suggest a common basis for clinical, imaging, genetic, pathological and basic science aspects of non-obstructive kidney dysplasia associated with functional kidney impairment. We propose to accept hallmark sonographic findings as surrogate parameters defining a clinical diagnosis of dysplastic kidneys. We suggest differentiated clinical follow-up plans for children with kidney dysplasia and summarize established monogenic causes for non-obstructive kidney dysplasia. Finally, we point out and discuss research gaps in the field.
肾发育不良是儿童慢性肾衰竭最常见的原因之一。虽然发育不良是一种组织学诊断，但在没有组织病理学证实的情况下，“肾发育不良”一词在日常临床实践中经常被使用。肾发育不良的临床参数尚未明确界定，导致医疗保健专业人员和患者之间的沟通不准确。这种缺乏共识阻碍了对疾病的精确理解和特定治疗方法的发展。基于系统的文献检索，我们在这里提出了非梗阻性肾发育不良与肾功能损害相关的临床、影像学、遗传学、病理学和基础科学方面的共同基础。我们建议接受标志性的超声发现作为定义发育不良肾脏临床诊断的替代参数。我们建议为患有肾发育不良的儿童制定不同的临床随访计划，并总结非梗阻性肾发育不良的已确立的单基因病因。最后，我们指出并讨论了该领域的研究空白。
