Genetic etiology of kidney disease - overview and case studies in accordance with massive parallel sequencing
Abstract
Hereditary kidney diseases are the cause of renal failure in 10-15 % of patients. What also contributes to the development of renal abnormalities are genetic factors that can appear in families repeatedly.
The article presents two case studies of molecular genetic testing of genes associated with kidney diseases. The clinical and genetic indication process carried out by the physician is described in these cases, together with the following processing of samples by massive parallel sequencing (MPS, NGS - next-generation sequencing), Sanger sequencing, and bioinformatic processing of raw data.
These are further evaluated and interpreted using prediction programs and professional databases. In the first case study, a genetic etiology for the disease was discovered in the family and a diagnosis was confirmed.
In the second case study, the genetic etiology of the disease could not have been confirmed due to the unclear pathogenicity of the variants found. Nevertheless, there will be dispensarization of individuals in whom these variants will be found.