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Normal and abnormal development of the kidney: a clinician's interpretation of current knowledge.

机译:肾脏的正常和异常发育:临床医生对当前知识的解释。

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PURPOSE: 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. MATERIALS AND METHODS: A review of recent advances in the molecular genetics of renal development and maldevelopment was done. RESULTS: 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. CONCLUSIONS: 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.
机译:目的:最近的基础科学文献充斥着肾脏发育分子遗传学的新发现。但是,这些信息很少被过滤到泌尿科教科书和期刊中。本文努力整合这些新发现,并提出比医学院和住院医师学院传统教授的肾脏发育更复杂的蓝图。为了实现此目标,作者提供了对复杂术语和事件的简单定义和解释,并指出了发生突变时如何导致发育不良。材料与方法:对肾脏发育和发育不良的分子遗传学的最新进展进行了综述。结果:肾前肾发育是由输尿管芽和后肾母细胞瘤中许多基因的表达所致,每个基因相互传递信息以诱导器官发生。结论:目前对正常肾脏器官发生的理解源于对分子遗传学扰动引起的疾病状态的研究。反过来,对正常肾脏器官发生的更好理解有助于理解分子遗传学出错时发育异常,发育不全,囊性疾病和肿瘤的发展。对于每种形式的肾发育不全和大多数肾肿瘤,最终鉴定出一种或多种基因缺陷。基于这些新发现的年轻泌尿科医师将为将来取得突破做出更好的准备,这些突破对于推进这些疾病的预防和管理是必不可少的。

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