The role of molecular-genetic investigation in early diagnostic and prognosis of X-linked Alport’s syndrome

Abstract

Alport’s syndrome is a non-immune glomerulopathy which is manifested by hematuria and/or proteinuria, by specific changes in structure of glomerular basal membrane. It is often accompanied by pathology of vision and hearing and sometimes with chronic renal failure. Alport’s syndrome is now intensively studied using modern methods of the DNA-diagnostics. Due to genetic polymorphism of this syndrome, it is necessary to take into account specific clinical pattern to choose a molecular-genetic method appropriate for each family. Results of the study of α-5-chain of the type IV collagen allows to diagnose the syndrome in clinically doubtful cases, i.e. on a pre-clinical stage of the disease. Extent and nature of genetic defect defines the prognosis of the disease in each specific case.