Open AccessGenetic factors of hereditary phenotypes of vesicoureteral reflux and reflux nephropathy
Author(s) -
Э. А. Юрьева,
В. В. Длин,
Е. С. Воздвиженская
Publication year - 2020
Publication title -
rossijskij vestnik perinatologii i pediatrii
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.139
H-Index - 4
eISSN - 2500-2228
pISSN - 1027-4065
DOI - 10.21508/1027-4065-2020-65-3-32-38
Subject(s) - reflux nephropathy , vesicoureteral reflux , elastin , nephropathy , phenotype , renal dysplasia , medicine , alport syndrome , connective tissue disorder , pathology , reflux , biology , genetics , disease , glomerulonephritis , urinary system , endocrinology , kidney , gene , diabetes mellitus
The article reviews publications on genetically determined vesicoureteral reflux and reflux nephropathy, accompanying certain phenotypes of systemic or local forms of hereditary connective tissue dysplasia (Ehlers–Danlo, Marfan, Williams syndromes, sluggish skin). The authors determined the role of mutations of the genes of fibrillar collagen, elastin, transforming growth factor β1, tenascin, lysyl peroxidase, metalloproteinases and other components of connective tissue, as well as their possible combination in the development of pathology. The authors call the specialists to continue research on genetic mutations in vesicoureteral reflux and reflux nephropathy.