Phua Yu L, Ho Jacqueline
aRangos Research Center, Children's Hospital of Pittsburgh of UPMC bDepartment of Pediatrics, Division of Nephrology, School of Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.
Curr Opin Pediatr. 2016 Apr;28(2):209-15. doi: 10.1097/MOP.0000000000000324.
Renal dysplasia is classically described as a developmental disorder whereby the kidneys fail to undergo appropriate differentiation, resulting in the presence of malformed renal tissue elements. It is the commonest cause of chronic kidney disease and renal failure in the neonate. Although several genes have been identified in association with renal dysplasia, the underlying molecular mechanisms are often complex and heterogeneous in nature, and remain poorly understood.
In this review, we describe new insights into the fundamental process of normal kidney development, and how the renal cortex and medulla are patterned appropriately during gestation. We review the key genes that are indispensable for this process, and discuss how patterning of the kidney is perturbed in the absence of these signaling pathways. The recent use of whole exome sequencing has identified genetic mutations in patients with renal dysplasia, and the results of these studies have increased our understanding of the pathophysiology of renal dysplasia.
At present, there are no specific treatments available for patients with renal dysplasia. Understanding the molecular mechanisms of normal kidney development and the pathogenesis of renal dysplasia may allow for improved therapeutic options for these patients.
肾发育异常传统上被描述为一种发育障碍，即肾脏无法进行适当分化，导致出现畸形的肾组织成分。它是新生儿慢性肾脏病和肾衰竭的最常见原因。尽管已经确定了几个与肾发育异常相关的基因，但其潜在的分子机制通常在本质上复杂且具有异质性，仍知之甚少。
在本综述中，我们描述了对正常肾脏发育基本过程的新见解，以及在妊娠期肾皮质和髓质如何正确形成模式。我们回顾了这一过程中不可或缺的关键基因，并讨论了在缺乏这些信号通路时肾脏模式是如何受到干扰的。最近全外显子测序的应用已经在肾发育异常患者中鉴定出基因突变，这些研究结果增进了我们对肾发育异常病理生理学的理解。
目前，对于肾发育异常患者没有可用的特异性治疗方法。了解正常肾脏发育的分子机制和肾发育异常的发病机制可能会为这些患者带来更好的治疗选择。
