Advances in genetic detection of kidney disease

الملخص EN

The Human Genome Project has provided a vast amount of molecular genetic information for the analysis of normal and diseased genes.

This new information provides new opportunities for precise diagnosis, assessment of predisposition and risk factors, and novel therapeutic strategies.

At the same time, this constantly expanding knowledge base represents one of the most difficult challenges in molecular medicine.

For monogenic diseases, nearly 2000 human disease genes have thus far been identified.

Most of these conditions are characterized by large mutational variation and even greater phenotypic variation.

In nephrology, several genetic diseases have been elucidated that provide new insight into the structure, function and developmental biology of the glomerulus, tubules and urogenital tracts, as well as renal cell tumors.

Great improvements in the diagnostic resolution of genetic disease have been achieved, such that single base pair mutations can be readily detected.

Because of accurate diagnosis and risk assessment, genetic testing may be valuable in improving disease management and preventive care when genotype-specific therapies are available.

Moreover, such testing may identify de novo mutations and potentially aid in understanding the disease process.

This review summarizes recent advances in the renal genetic database and methods for genetic testing of renal diseases.