129 Tuberous Sclerosis Presenting as End Stage Renal Disease

Abstract

TUBEROUS SCLEROSIS PRESENTING AS END STAGE RENAL DISEASE Nabeel Imam1, Mohammed Ahmed2, Muhammad Rizwan Afzal2, Sarah Grove2, Antoine Samaha2. 1 Georgetown University Hospital, Washington, DC, 2Good Samaritan Hospital, Cincinnati, OH. Tuberous sclerosis (TS) is a multisystem autosomal dominant disorder that is characterized by seizure, mental retardation, cutaneous lesions and visceral hamartomas. The diagnosis of TS is made clinically and the presentation of the disease varies. Renal involvement in TS includes angiomyolipomas, renal cysts, and renal cell carcinoma. Despite the high incidence of renal involvement, development of chronic renal failure is unusual. We report an unusual case of advanced kidney disease secondary to renal involvement of TS. A 36-year-old African American female with a past medical history of childhood seizures presented with fatigue, depressed mood, nausea and vomiting, dysgueusia, and nocturia. She denied any other symptoms nor using any medications. She has a 15-year-old son with an established diagnosis of TS (with renal involvement namely angiomyolipoma). Her physical exam was significant for blood pressure 156/95 and pale appearance. Exam showed angiofibromas along malar region of the face and a right 5 digit subungual fibroma. She also had asterixis and clonus. Initial investigation showed blood urea nitrogen of 164 mg/dl, serum creatinine of 23.45 mg/dl, calcium 4.1 mg/dl, phosphorus 10.1 mg/dl, parathyroid hormone 962 pg/ml, serum albumin 3.2g/dl and hemoglobin 6.4 g/dl. Urine analysis showed 3+ protein, 1+ blood, 1+ leukocyte esterase. Extensive serology workup was negative. A CT scan of the abdomen/pelvis showed bilateral atrophic kidneys with a 5.5cm large angiomyolipoma in the left kidney and multiple small cortical cysts bilaterally. Hemodialysis was initiated and she later underwent selective embolization of the renal angiomyolipoma due to progressive enlargement on the follow up CT scan of the abdomen. TS was diagnosed on the basis of a positive family history, kidney CT scan findings, presence of facial angiofibroma, and subungual fibromas. This case illustrates that advanced kidney disease can be the first clinical presentation of previously undiagnosed TS.