Summary
Objective. To review the genetic causes of inherited cystic kidney diseases described in the literature and the results of applying next-generation sequencing studies.
Methods. A literature search was conducted using the international database PubMed and the specialized search engine Google Scholar.
Results. Inherited cystic kidney diseases represent a group of genetic disorders that lead to cyst formation in the kidneys and can result in end-stage renal disease. Autosomal dominant polycystic kidney disease is the most common in this group; however, the existence of phenocopies and the heterogeneity of the disease group often complicate clinical diagnosis, so the progress of next-generation sequencing methods significantly contributed to the possibilities of accurate diagnosis. Studies have shown that cystic kidney disease accounts for most chronic kidney disease patients and has the highest diagnostic performance, especially in families with extrarenal features. The identification of genetic causes also allowed us to compare and predict the influence of different genes to the course of disease, for example, PKD1 or PKD2 gene pathogenic variants in autosomal dominant polycystic kidney disease.
Conclusions. Advances in genetic testing make it easier to diagnose and differentiate inherited cystic kidney diseases despite their similar clinical features. Early diagnosis is crucial for initiating personalised monitoring and treatment to slow disease progression. It also allows for assessing the risk of disease transmission to offspring, which is important for family planning.
