Urologie pro praxi 3/2019

Genetically determined renal diseases that a urologist does or may encounter in the practice

Although urologists (unlike geneticists and paediatricians) do not often deal with the issue of genetically determined renal diseases in their practice, they do encounter them from time to time. In the vast majority of cases, these conditions are hereditary diseases with Mendelian inheritance patterns where there are defects in a single gene (monogenic type), with these defects being caused by a mutant allele at a single locus. Genetic kidney diseases that urologists do or may encounter include, in particular, cystic kidney diseases and genetically determined causes of urolithiasis; genetic glomerular diseases, e.g. Alport syndrome; monogenic forms of hypertension of renal aetiology; Fanconi syndrome; and Fabry disease. The article provides a list of these diseases, their characteristics, diagnosis, and treatment options.

Keywords: genetics, autosomal dominant inheritance, autosomal recessive inheritance, X-linked inheritance, cystic kidney disease, nephrolithiasis, Alport syndrome, Fanconi syndrome, Fabry disease.