Mahmoud Anfal Hussain, Talaat Iman M, Tlili Abdelaziz, Hamoudi Rifat
Research Institute for Medical and Health Sciences, College of Medicine, University of Sharjah, Sharjah, United Arab Emirates.
Clinical Sciences Department, College of Medicine, University of Sharjah, Sharjah, United Arab Emirates.
Front Med (Lausanne). 2024 Jul 15;11:1384676. doi: 10.3389/fmed.2024.1384676. eCollection 2024.
Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) refer to a range of conditions that affect the kidney and urinary tract. These anomalies can be severe, such as kidney agenesis, or milder, such as vesicoureteral reflux. CAKUT affects over 1% of live births and accounts for 40-50% of cases of chronic kidney failure in children. The pathogenesis of CAKUT is caused by various environmental, genetic, and epigenetic factors that disrupt normal nephrogenesis. Environmental factors that can lead to CAKUT include maternal diabetes, obesity, malnutrition, alcohol consumption, or medications affecting kidneys development. Genetic factors can cause an imbalance in the metanephros and the ureteric bud interaction. Defects in specific genes such as PAX2, TBX18, NRIP1, REX, SIX2, BMP4, and chromosome 17 cause CAKUT. Over 50 genes have been identified as the root cause of this condition, with monogenetic variants causing up to 20% of all cases. CAKUTs can be diagnosed through fetal ultrasonography, but some anomalies may remain undetected. GWASs, Next Generation Sequencing for targeted and whole exome DNA sequencing may provide additional diagnostic methods. This review article highlights some the leading factors that cause CAKUT, which adversely affects kidney development and urinary tract function.
先天性肾脏和尿路畸形（CAKUT）指的是一系列影响肾脏和尿路的病症。这些畸形可能较为严重，如肾缺如，也可能较轻，如膀胱输尿管反流。CAKUT影响超过1%的活产婴儿，占儿童慢性肾衰竭病例的40 - 50%。CAKUT的发病机制是由各种环境、遗传和表观遗传因素破坏正常肾发生所致。可导致CAKUT的环境因素包括母亲患糖尿病、肥胖、营养不良、饮酒或使用影响肾脏发育的药物。遗传因素可导致后肾和输尿管芽相互作用失衡。特定基因如PAX2、TBX18、NRIP1、REX、SIX2、BMP4以及17号染色体的缺陷会导致CAKUT。已鉴定出超过50个基因是这种病症的根本原因，单基因变异导致所有病例的20%。CAKUT可通过胎儿超声检查进行诊断，但有些畸形可能仍未被发现。全基因组关联研究、用于靶向和全外显子DNA测序的下一代测序可能提供额外的诊断方法。这篇综述文章强调了一些导致CAKUT的主要因素，CAKUT会对肾脏发育和尿路功能产生不利影响。
