Genetic aspects of congenital anomalies of the kidney and urinary tract
https://doi.org/10.36485/1561-6274-2020-24-3-9-14
Abstract
Congenital anomalies of kidney and urinary tract (CAKUT) constitute an average of 25 % of the total number of all genetic anomalies diagnosed in utero and include both individual anomalies of kidney or urinary tract and a combination of such. One of the important problems of pediatric nephrology is the early diagnosis of congenital anomalies of kidney and urinary tract, since untimely detected pathologies lead to a decrease in renal function. The cause of such violations can be genetic factors, environmental factors affecting the woman's body before or during pregnancy. Genetic factor contributes significantly to the formation of CAKUT based on the proven role of mutations in more than 200 genes associated with the development of these anomalies. Since the classical methods of molecular diagnostics do not allow in 90 % of cases to determine occurring mutations, there is a need to apply new genetic testing technologies to identify mutations of genes associated with this group of diseases. Next generation sequencing allows to detect rare genetic variants and concurrently test a large number of genes within a short period of time for the presence of clinically important mutations in them. In addition, the use of next-generation sequencing expands the search for new candidate genes of CAKUT. There are ethnic differences regarding genes involved in the development of congenital anomalies of kidney and urinary tract. The most promising present-day strategy is based on the study of the specific region of patient’s whole exome and the subsequent development of a diagnostic panel.
About the Authors
A. V. Sukalo
Belarusian State Medical University
Belarus
Belarus
Prof., Academic Alexander V. Sukalo, MD, PhD, DMedSci
1st Department of Pediatrics, Cheif
220116, Belarus, Minsk, av. Dzerzhynskogo 83
Phone: +375(17)369-57-61
A. V. Kilchevsky
The Institute of Genetics and Cytology of the Belarusian National Academy of Sciences
Belarus
Belarus
Prof., Academic Alexander V. Kilchevsky, PhD
Laboratory of Environmental Genetics and Biotechnology
220072, Belarus, Minsk, Akademicheskaya st., 27
Phone: +375(17)284-19-46
O. C. Mazur
The Institute of Genetics and Cytology of the Belarusian National Academy of Sciences
Belarus
Belarus
Oksana C. Mazur
Laboratory of Environmental Genetics and Biotechnology
220072, Belarus, Minsk, Akademicheskaya st., 27
Phone: +375(17)284-19-18
I. V. Sheuchuk
2nd City Children’s Clinical Hospital, Minsk
Belarus
Belarus
Ivan V. Sheuchuk
Intensive Care Unit
220020, Belarus, Minsk, Narochanskaya st., 17
Phone: +375(17)369-51-62
A. P. Mikhalenkо
The Institute of Genetics and Cytology of the Belarusian National Academy of Sciences
Belarus
Belarus
Alena P. Mikhalenka, PhD
Laboratory of Environmental Genetics and Biotechnology
220072, Belarus, Minsk, Akademicheskaya st., 27
Phone: +375(17)284-19-18
S. V. Baiko
Belarusian State Medical University
Belarus
Belarus
Associate Professor Sergey V. Baiko, MD, PhD, DMedSci
1st Department of Pediatrics
220016, Belarus, Minsk, Dzerginskogo аv., 83
Phone: +375(17)250-37-61
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Review
For citations:
Sukalo A.V., Kilchevsky A.V., Mazur O.C., Sheuchuk I.V., Mikhalenkо A.P., Baiko S.V. Genetic aspects of congenital anomalies of the kidney and urinary tract. Nephrology (Saint-Petersburg). 2020;24(3):9-14. (In Russ.) https://doi.org/10.36485/1561-6274-2020-24-3-9-14
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