G.A. MAKOVETSKAYA, L.I. MAZUR, M.V. KURSHINA, S.A. PYRKOVA, S.N. RESHETOVA

Samara State Medical University, Samara

  Contact details:

Kurshina M.V. — PhD (medicine), Assistant Lecturer of the Department of Hospital Pediatrics

Address: 165A Karl Marx avenue, Samara, Russian Federation, 443079, tel.: +7-927-653-50-23, e-mail: marina_dmitriewa@mail.ru

(For citation: Makovetskaya G.A., Mazur L.I., Kurshina M.V., Pyrkova S.A., Reshetova S.N. Congenital anomalies of kidneys and urinary tract in children as an urgent problem in pediatrics. Practical medicine. 2021. Vol. , № , P.)

The review systematizes the current data on congenital anomalies of kidneys and urinary tract (СAKUT), which are a common and main cause of chronic kidney disease, end-stage renal failure, disability at an early and older age in children. The article provides up-to-date information on the most common methods for assessing kidney damage in the fetus and children. The review outlines the current achievements in the study of etiopathogenesis, clinical picture, diagnosis with an emphasis on early prenatal detection. The data on the genetic basis of diseases, including in sporadic cases of CAKUT, are presented. The features of using genetic information in a clinical setting for the development of personalized medicine are reflected. The clinical significance of the use of biomarkers, genetic testing in kidney disease in children is shown. The issues of continuity between specialists are stated, as well as those of the importance of medical and genetic counseling of families, ethical aspects of congenital anomalies of the urinary system in children, and prevention.

The purpose is to summarize the modern data related to the etiopathogenesis, prenatal diagnostics and genetic basis of CAKUT syndrome, and the importance of genome and post-genome technologies for the development of personalized medicine.

Key words: CAKUT, children, chronic kidney disease, end-stage renal failure, genetic basis.

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