Table 1.

Teaching points

•To make a definitive diagnosis of PKD, only ultrasound of the abdomen and basic laboratory examination are not enough.

•Primary diagnosis must be based on a comprehensive consideration that combines past history and physical examination with present symptoms.

•Imaging examinations (computed tomography and magnetic resonance imaging) of kidney, liver, brain, lung, and heart that relate to the patient’s condition are necessary, and genetic diagnosis can help in better understanding of lesions.

•Renal lesions caused by TSC includes but more than just PKD.

•Genetics analysis can help us figure out PKDTS.

PKD, polycystic kidney disease; PKDTS, TSC2/PKD1 contiguous gene syndrome; TSC, tuberous sclerosis complex.