[Molecular diagnostics of renal diseases with underlying genetic predisposition].
The genetic basis for dysplasia and tumors of the kidney has increasingly become the subject of cytogenetic and molecular genetic investigations over the last decade. For that reason, it is now possible to define the risk of disease recurrence more precisely in families with kidney diseases caused by genetic alterations. The relevant genes and the mutations have been identified for most of these diseases and genetic diagnostics are possible. However, it is necessary to evaluate in each individual case whether genetic diagnostics are reasonable. This will be discussed for polycystic renal diseases, agenesis and dysplasia of the kidney, and hereditary kidney tumors.
Molekularbiologisches Labor, Klinik für Urologie, FSU, Jena. kerstin.junker@med.uni-jena.de
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D004252:DNA Mutational Analysis; D005817:Genetic Counseling; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D007668:Kidney / Q000002:abnormalities*; D007674:Kidney Diseases / Q000175:diagnosis* / Q000235:genetics*; D007680:Kidney Neoplasms / Q000175:diagnosis* / Q000235:genetics*; D025202:Molecular Diagnostic Techniques; D007690:Polycystic Kidney Diseases / Q000175:diagnosis / Q000235:genetics; D018570:Risk Assessment