Glassberg Kenneth I
Division of Pediatric Urology, State University of New York, Downstate Medical Center, Brooklyn, NY, USA.
J Urol. 2002 Jun;167(6):2339-50; discussion 2350-1.
The recent basic science literature is replete with new discoveries in the molecular genetics of renal development. However, little of this information has filtered into urological textbooks and journals. An effort is made herein to integrate these new findings and propose a more sophisticated blueprint of renal development than the one traditionally taught in medical school and residency. To accomplish this goal the author offers simple definitions and interpretations of complicated terms and events, and points out how maldevelopment results when mutations take place.
A review of recent advances in the molecular genetics of renal development and maldevelopment was done.
Renal metanephric development results from the expression of many genes in the ureteral bud and metanephric blastema with each sending messages to the other to induce organogenesis.
Currently an understanding of normal renal organogenesis stems from a study of disease states resulting from perturbations in molecular genetics. In turn, a better understanding of normal renal organogenesis facilitates an understanding of how dysplasia, hypoplasia, cystic disease and tumors develop when molecular genetics go awry. For each form of renal dysgenesis and for most renal tumors 1 or more gene defects are eventually identified. The young urologist based in these new discoveries would be better prepared to make the breakthroughs in the future that are necessary for advancing the prevention and management of these conditions.
近期基础科学文献中充斥着肾脏发育分子遗传学方面的新发现。然而,这些信息很少渗透到泌尿外科学教材和期刊中。本文旨在整合这些新发现,并提出一个比医学院校和住院医师培训中传统讲授的更为精细的肾脏发育蓝图。为实现这一目标,作者对复杂的术语和事件给出了简单的定义和解释,并指出突变发生时发育异常是如何产生的。
对肾脏发育和发育异常分子遗传学的最新进展进行了综述。
肾脏后肾发育源于输尿管芽和后肾胚基中许多基因的表达,二者相互传递信息以诱导器官发生。
目前,对正常肾脏器官发生的理解源于对分子遗传学扰动导致的疾病状态的研究。反过来,对正常肾脏器官发生的更好理解有助于理解当分子遗传学出现差错时发育异常、发育不全、囊性疾病和肿瘤是如何发生的。对于每种形式的肾脏发育不全和大多数肾脏肿瘤,最终都能确定1个或更多的基因缺陷。基于这些新发现的年轻泌尿外科医生将更有准备在未来取得进展,这些进展对于推进这些疾病的预防和管理是必要的。