Alport Syndrome

Alport syndrome is a genetic disorder characterized by progressive kidney disease, hearing loss, and sometimes eye abnormalities. It is caused by mutations in genes encoding collagen IV, a structural protein in the glomerular basement membrane. Our nephrology department provides comprehensive genetic testing and counseling for patients and their families. We offer personalized management plans, including blood pressure control with ACE inhibitors or ARBs to slow kidney disease progression. Regular monitoring of kidney function, hearing, and vision is essential. For advanced kidney disease, we provide dialysis and kidney transplantation services to improve quality of life.

Fabry Disease

Fabry disease is a rare genetic disorder caused by a deficiency of the enzyme alpha - galactosidase A, leading to the accumulation of glycosphingolipids in various organs, including the kidneys. Symptoms include kidney damage, pain, and cardiovascular issues. Our nephrology team offers enzyme replacement therapy to reduce substrate accumulation and slow disease progression. We also provide comprehensive care, including pain management, blood pressure control, and regular monitoring of kidney function. Genetic counseling and support for patients and families are available to address the long - term impact of this condition.

Thin Basement Membrane Nephropathy

Thin basement membrane nephropathy is a benign genetic kidney disorder characterized by thinning of the glomerular basement membrane, often causing microscopic hematuria. It is usually benign and rarely progresses to kidney failure. Our nephrology department provides diagnostic services, including kidney biopsies and genetic testing, to confirm the condition. We offer reassurance and regular monitoring for patients with persistent hematuria. In most cases, no specific treatment is required, but we provide guidance on managing symptoms and maintaining overall kidney health.

Autosomal Dominant Polycystic Kidney Disease (ADPKD)

Autosomal dominant polycystic kidney disease is a common genetic disorder characterized by the growth of numerous cysts in the kidneys, leading to progressive kidney enlargement and eventual kidney failure. Symptoms include flank pain, hypertension, and urinary tract infections. Our nephrology department offers comprehensive diagnostic services, including imaging studies and genetic testing. We provide personalized management plans, including medications to control blood pressure and pain, and lifestyle modifications to slow disease progression. For advanced kidney disease, we offer dialysis and kidney transplantation services. Regular monitoring and support are available to help patients manage their condition and improve quality of life.