Nephrology and Kidney Diseases

Genetic and Inherited Kidney Disorders

Genetic factors contribute significantly to the development of several kidney diseases. Autosomal dominant polycystic kidney disease is the most common inherited kidney disorder and is characterized by progressive cyst formation, leading to kidney enlargement and failure. Alport syndrome, caused by mutations in type IV collagen, leads to progressive glomerular disease with hearing loss and ocular abnormalities. Advances in molecular genetics and next-generation sequencing have enabled early diagnosis, especially in children with a family history of kidney disease. Genetic counseling and risk assessment are important components of care. Research into gene therapy and molecular-targeted treatments offers hope for the future management of hereditary renal conditions.

Topics covered:

• Polycystic kidney disease and its management

• Alport syndrome and collagen gene mutations

• Genetic counseling in inherited nephropathies