The diagnosis is made depending on the clinical presentation of the patient. For patients that present with the classical symptoms of the disorder, specifically flank pain and hematuria, the initial tests include a urinalysis and complete blood count. Next, imaging of the affected side includes an ultrasound or CT scan of the kidney. Both of these tests would show the distension of the affected kidney. To confirm the diagnosis, a CT angiogram can be performed, which would track the vascular path over the kidney, showing that a vessel is obstructing the superior calyces. Alternatively, a physician may perform a cystoscopy with a retrograde pyelogram, which would demonstrate the level of the obstruction and rule out nephrolithiasis. For those individuals that do not present with any symptoms, hematuria may be found on an urinalysis when coming in for a routine physical. Since hematuria, to any degree, is an abnormal finding, this would lead to further imaging to diagnose its cause. This imaging would be a CT scan or a renal ultrasound, which would show evidence of hydronephrosis, and lead to the same diagnostic path as those with the classic signs and symptoms.
Fraley syndrome
Shapiro syndrome
Benedikt syndrome
Catel–Manzke syndrome
Mauriac syndrome
Benjamin syndrome
Schimke syndrome
Dravet syndrome