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Genetic disorders in the etiology of CAKUT. Multicenter study (Moscow-Minsk)
https://doi.org/10.25557/2073-7998.2025.11.96-97
Abstract
Congenital anomalies of the kidney and urinary tract (CAKUT) account for an average of 25% of all genetic defects diagnosed in utero. The incidence of CAKUT is 2–6 cases per 1000 newborns. To form a prognosis for the disease and determine the tactics of introducing patients into clinical practice, as well as medical and genetic counseling, it is necessary to diagnose monogenic forms of pathology using medical exemptions of high-throughput next-generation sequencing, which has demonstrated high efficiency in identifying pathogenic mutations associated with CAKUT.
Supporting agencies: The work was completed without external funding
About the Authors
S. L. Morozov
Yu.E. Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the N.I. Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
2, Taldomskaya st., Moscow, 125412
S. V. Bayko
Belarusian State Medical University
Russian Federation
Russian Federation
83, Dzerzhinski Ave., Minsk, 220083
V. P. Pakhomova
Yu.E. Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the N.I. Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
2, Taldomskaya st., Moscow, 125412
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Review
For citations:
Morozov S.L., Bayko S.V., Pakhomova V.P. Genetic disorders in the etiology of CAKUT. Multicenter study (Moscow-Minsk). Medical Genetics. 2025;24(11):96-97. (In Russ.) https://doi.org/10.25557/2073-7998.2025.11.96-97
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