Zwolińska Danuta, Polak-Jonkisz Dorota, Makulska Irena
Katedra i Klinika Nefrologii Pediatrycznej, Akademii Medycznej we Wrocławiu.
Postepy Hig Med Dosw (Online). 2011 Dec 15;65:829-37. doi: 10.5604/17322693.970290.
Congenital anomalies of the kidney and urinary tract (CAKUT) occur at a frequency of 1 in 500 live births and are a common cause of renal insufficiency in childhood. CAKUT encompass a wide spectrum of malformations including anomalies of the kidney, collecting system, bladder and urethra. Most cases of CAKUT are sporadic and limited to the urinary tract, but some of them are syndromic or associated with positive family history. To understand the basis of human renal anomalies, knowledge of kidney and urinary tract development is necessary. This process is very complicated, requires precise integration of a variety of progenitor cell populations of diverse embryonic origins and is controlled by many factors at every stage of development. This review focuses on the genetic factors leading to developmental errors of important morphogenetic processes, particularly in metanephric kidney induction and ureteric bud branching. The essential results of genetic studies in regard to CAKUT, performed on experimental models and in humans, are presented. However, further investigations are required to complete understanding of the complex molecular network, which will help us to determine novel preventive and therapeutic strategies for CAKUT.
先天性肾和尿路畸形（CAKUT）在每500例活产婴儿中的发生率为1/500，是儿童期肾功能不全的常见原因。CAKUT包括广泛的畸形，包括肾脏、集合系统、膀胱和尿道的异常。大多数CAKUT病例是散发性的，且仅限于尿路，但其中一些是综合征性的或与家族史阳性相关。为了理解人类肾脏异常的基础，了解肾脏和尿路的发育是必要的。这个过程非常复杂，需要各种不同胚胎起源的祖细胞群体精确整合，并在发育的每个阶段受到许多因素的控制。本综述重点关注导致重要形态发生过程发育错误的遗传因素，特别是在中肾诱导和输尿管芽分支方面。介绍了在实验模型和人类中进行的关于CAKUT的遗传学研究的重要结果。然而，需要进一步研究以全面了解复杂的分子网络，这将有助于我们确定针对CAKUT的新型预防和治疗策略。
