Nephronophthisis is a genetic kidney disorder that primarily affects children and young adults. It leads to the progressive loss of kidney function due to the formation of cysts in the kidneys, which disrupt normal kidney structure and function. This condition is often associated with other issues, such as retinitis pigmentosa, a disease that affects vision. The symptoms of nephronophthisis can include excessive thirst, frequent urination, and growth delays in children. Diagnosis typically involves imaging studies and genetic testing. Treatment focuses on managing symptoms and may eventually require dialysis or a kidney transplant as kidney function declines.