Role of genetics in the development of pediatric nephrology

• Main Authors: M. S. Ignatova, V. V. Dlin
• Format: Article
• Language: Russian
• Published: Ltd. “The National Academy of Pediatric Science and Innovation” 2016-03-01
• Series: Rossijskij Vestnik Perinatologii i Pediatrii
• Subjects: babies; hereditary nephropathy; congenital malformations; genetics
• Online Access: https://www.ped-perinatology.ru/jour/article/view/182

Generalized data on the role of medical genetics in the development of pediatric nephrology are given on the basis of the authors’ observations and modern literature. It is shown that the introduction of genetic researches into the practice of a pediatric nephrologist can change the view of the etiology of many diseases, decipher the essence of a number of nephropathies, the cause of which was unclear, and reduce the number of idiopathic diseases. This is particularly important for the determination of therapeutic tactics and the emergence of new pathogenic agents that can improve prognosis and quality of life in patients in a number of genetic diseases. Particular attention is drawn to hereditary nephropathy accompanied by hematuria and particularly to Alport syndrome characterized by a progressive course. The development of genetics and clinical introduction of its advances have recently led to the identification of a new nosological entity — hereditary C3 glomerulonephritis as a result of CFHR5 gene mutation. Thanks to the development of genetic technologies, new genetic kidney diseases are certain to be disclosed in the next future.