Nephronophthisis Complex - Medullary Cystic Disease

How is the disease diagnosed?

Diagnosis of medullary cystic disease begins with a history and physical exam. Kidney function tests and urine cultures can detect infection or kidney damage. An ultrasound or CT scan can assess the kidney size or find kidney cysts.

In difficult cases, a kidney biopsy may be needed to make the diagnosis. This is a procedure that involves inserting a special needle through the skin and into the kidney. The needle is used to remove a tiny piece of the kidney, which can be sent to the lab for evaluation and testing.