肾脏和泌尿道先天性异常发育的遗传因素

T. S. Kursova, S. L. Morozov, S. V. Baiko, V. Dlin
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引用次数: 0

摘要

先天性肾脏和泌尿道畸形(CAKUT)包括多种因肾脏和/或泌尿道形态发生障碍而导致的结构异常。在全球 21 岁以下的慢性肾病患者中,CAKUT 约占 40-50%。大多数先天性泌尿系统畸形都是在子宫内或儿童出生后的头几个月被诊断出来的,这就决定了对儿童的进一步治疗策略,这取决于 CAKUT 的严重程度和肾脏过滤功能的下降程度。文章提供了有关泌尿系统畸形发病原因的现代数据,举例说明了旨在预测畸形发生的科学领域的发展。此外,还考虑了疾病的早期标志物。因此,尽管遗传学在了解 CAKUT 的发病机理和预测其发展方面做出了重大贡献,但泌尿系统畸形问题至今仍具有现实意义。
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Genetic aspects of the development of congenital anomalies of the kidney and urinary tract
Congenital anomalies of the kidney and urinary tract (CAKUT) include a wide range of structural anomalies that develop as a result of impaired morphogenesis of the kidneys and/or urinary tract. CAKUT accounts for about 40–50% of patients under 21 with chronic kidney disease worldwide. Most congenital anomalies of the urinary system are diagnosed in utero or during the first months of a child’s life, which determines further tactics for managing a child, depending on the severity of CAKUT and the degree of decrease in the filtration function of the kidneys. The article provides modern data on the causes of the development of anomalies of the urinary system, provides examples of the development of scientific areas that will be aimed at predicting the occurrence of malformations. In addition, early markers of the disease are considered. Thus, the problem of anomalies of the urinary system remains relevant to the present despite the significant contribution of genetics to understanding the pathogenesis and predicting the development of CAKUT.
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