[Guidelines for the management of tuberous sclerosis complex renal disease]. / Atteintes rénales de la sclérose tubéreuse de Bourneville : recommandations de prise en charge.

ABSTRACT

PURPOSE: To review existing literature and deduce guidelines for the management of renal disease in patients with tuberous sclerosis complex (TSC). PATIENTS After review of literature, a core panel of five physicians wrote a draft that was evaluated by 14 reviewers who used a 9-level scale (1 total disagreement; 9 total agreement). The guidelines were then reformulated until each item received a median score superior or equal to 8. RESULTS: Forty-eight to 80 % of TSC patients have significant renal involvement including angiomyolipomas (AMLs), cysts, malignant tumors and renal insufficiency. It is recommended to perform an abdominal ultrasound (and serum creatinine if abnormal ultrasound) when TSC is diagnosed. This work-up will be repeated every 3-5years if normal. Associated autosomal dominant polycystic kidney disease must be suspected in case of numerous and large cysts. After the age of 20, follow-up should use computed tomography (CT) or MRI that are more precise than ultrasound for the measurement of AMLs. Biopsy of a renal mass should be discussed in case of calcifications, necrosis or rapid growth. Females with TSC should undergo screening for pulmonary lymphangioleiomyomatosis by CT at the age of 18, and, if negative at the age of 30-40. Acute bleeding should be treated with percutaneous embolization. Asymptomatic angiomyolipomas with several risk factors (size>80mm, predominant vascular component, micro-aneurysms) should undergo prophylactic treatment, if possible using embolization. The role of mTOR inhibitors in the management of angiomyolipomas needs to be defined. CONCLUSION: Standardization of follow-up and treatment is necessary to improve the management of TSC renal involvement.