Clinical analysis of tuberous sclerosis-associated huge renal angiomyolipoma (reports of 9 cases) / 中华泌尿外科杂志

ABSTRACT

Objective To investigate the clinical characteristics of tuberous sclerosis-associated huge renal angiomyolipoma,and to summarize the experiences of diagnosis and treatment.Methods The clinical data of 9 patients with tuberous sclerosis-associated huge renal angiomyolipoma treated in Peking Union Medical College Hospital from January 2009 to June 2014 was analyzed retrospectively,including 4 males and 5 females.The age at onset and diagnosis of tuberous sclerosis was 0 to 7 years (mean 2.3 years) and 2 to 30 years (mean 19.6 years),respectively,and the diagnosis age of renal angiomyolipoma was 14 to 35 years (mean 25.2 years).In the 9 patients,8 cases had facial angiofibromas,7 cases had hypomelanotic macules,6 cases had ungual fibromas and epilepsy,and 5 cases had family history.All the patients underwent abdominal ultrasound examination,CT scan and serum creatinine testing,and 3 cases received renal dynamic imaging to assess renal lesions and functional status.Results Imaging examinations showed typical renal angiomyolipomas,which were bilateral and multiple lesions with the maximum diameter greater than 10 cm in every patient,and with 2 patients had a history of acute retroperitoneal hemorrhage.The levels of serum creatinine were normal in all patients,and 3 patients had unilateral glomerular filtration rate of 44.4-99.1 ml/min (mean 62.9 ml/min).One patient underwent unilateral partial nephrectomy,2 patients underwent selective renal artery embolization,1 received blood transfusion due to acute bleeding,1 received rapamycin treatment,and 4 patients underwent close follow-up.Conclusions Tuberous sclerosis-associated renal angiomyolipomas are often bilateral and multiple.Increase of the lesion diameter may only enhance the risk of bleeding with small effect on renal function.Therapeutically,close follow-up and mTOR inhibitor are the preferred treatment options,surgery or selective renal arterial embolization is used only for the possible malignancy,acute bleeding or patients with high risk of bleeding.