TSC2/PKD1 contigue gendeletiesyndroom

A 16-year-old White female patient presented with newly diagnosed hypertension and intermittent bilateral flank discomfort. Her family history was notable for autosomal dominant polycystic kidney disease in her mother, who progressed to kidney failure at the age of 38 years. On physical examination, the patient’s blood pressure was 150/95 mm Hg, and multiple reddish facial papules, consistent with angiofibromas, were noted. Laboratory studies showed normal kidney function and C-reactive protein level, with no evidence of hematuria.