Which genetic disorder can lead to renal cysts and is associated with multiple bilateral angiomyolipomas?

Which genetic disorder can lead to renal cysts and is associated with multiple bilateral angiomyolipomas?

• A. Tuberous sclerosis
• B. Von Hippel-Lindau
• C. Polycystic kidney disease
• D. Alport syndrome

Answer: (A)

Renal angiomyolipomas that are numerous and occur in both kidneys are a hallmark of tuberous sclerosis. This genetic disorder, caused by mutations in TSC1 or TSC2, leads to hamartomas in multiple organs, including the kidneys, where AMLs are classic and often bilateral and multifocal. Renal cysts can also be seen in this condition, reflecting the broader developmental abnormality. Von Hippel-Lindau can present with renal cysts and tumors like hemangioblastomas but AMLs are not typical. Alport syndrome involves glomerulonephritis with hearing loss, and polycystic kidney disease is dominated by cysts without the characteristic AMLs. Thus, the described pattern points to tuberous sclerosis.

Renal angiomyolipomas that are numerous and occur in both kidneys are a hallmark of tuberous sclerosis. This genetic disorder, caused by mutations in TSC1 or TSC2, leads to hamartomas in multiple organs, including the kidneys, where AMLs are classic and often bilateral and multifocal. Renal cysts can also be seen in this condition, reflecting the broader developmental abnormality. Von Hippel-Lindau can present with renal cysts and tumors like hemangioblastomas but AMLs are not typical. Alport syndrome involves glomerulonephritis with hearing loss, and polycystic kidney disease is dominated by cysts without the characteristic AMLs. Thus, the described pattern points to tuberous sclerosis.