Management of renal angiomyolipomas associated with tuberous sclerosis complex

PURPOSE: Intensive management is generally recommended for angiomyolipomas associated with tuberous sclerosis complex (TSC), which are known to have a more aggressive nature than sporadic tumors. In this study we evaluated the management of these tumors. MATERIALS AND METHODS: The records of 6 men and 6 women with TSC and a mean age of 28.8 years) with angiomyolipomas treated from 1984 to 2000 were retrospectively analyzed. All patients had bilateral multiple tumors (mean size 6.6 cm). There were 10 lesions classified as small (less than 4 cm), 6 medium (4 to 10 cm) and 8 large lesions (10 cm or greater). Computerized tomography was repeated annually for followup observation and semiannually after embolization. RESULTS: Excluding from study 3 tumors treated prophylactically intervention was required in 20%, 50% and 100% of small, medium and large tumors, respectively. Among 14 tumors followed by observation, 8 grew and 4 required intervention. Uncontrollable hemorrhage did not develop in any patient. While some tumors showed remarkable growth in decade 3, growth did not exceed 1.5 cm per year. Embolization was performed in 11 tumors and tumors shrank in 10. Although 1 patient experienced renal atrophy, all patients but 1 are alive without renal failure with a mean followup of 60 months. CONCLUSIONS: Although asymptomatic angiomyolipomas associated with TSC grow gradually, severe hemorrhage is rare and most tumors can be managed conservatively with annual computerized tomography. Embolization is the first choice of intervention but should be reserved until symptoms develop.     

Giant angiomyolipoma associated with marked pulmonary lesions suggesting lymphangioleiomyomatosis in a patient with tuberous sclerosis

The association between Tuberous Sclerosis (TS) and Angiomyolipoma (AML) is well known. A patient with TS and giant AML mimicking Renal Cell Carcinoma (RCC), measuring 29 × 18 × 11 cm, weighing 4700 gr is presented. Imaging studies revealed coexistent pulmonary lymphangioleiomyomatosis and concurrent renal and pulmonary involvement is extremely rare in patients in TS. We believe that the growth potential of this hamartomatous lesion may reach to a life threatening size. This revised version was published online in August 2006 with corrections to the Cover Date.     

Tuberous sclerosis, associated with renal cell carcinoma and angiomyolipoma, in a patient who developed endstage renal failure after nephrectomy

We report a case of tuberous sclerosis (TSC) associated with renal cell carcinoma and angiomyolipoma in a patient, who developed endstage renal failure that required hemodialysis after nephrectomy. A 37-year-old woman with TSC was admitted for further investigation of bilateral renal masses detected by computed tomography (CT). Angiography revealed a tumor stain (4 cm in diameter) in the medial portion of the right kidney. Because renal cell carcinoma (RCC) was strongly suspected, right nephrectomy was performed. Her serum creatinine level was already increased, moderately, at 2.4 mg/dl, before the right nephrectomy. Her renal function deteriorated quickly (in 1&frac; years) after the right nephrectomy, and hemodialysis was introduced the next year. The histological findings of the resected right kidney revealed marked intimal thickening of the intralobular arteries. These findings suggested that the renal function loss was not only caused by the nephron mass reduction due to the nephrectomy but was also caused by nephrosclerosis. Though most patients with TSC die before developing endstage renal failure, this patient is currently receiving maintenance hemodialysis and has been followed for 3 years with no recurrence of RCC in the left kidney.     

Tuberous sclerosis complex and renal angiomyolipoma: case report and review of the literature

A 5-year-old boy with a known diagnosis of tuberous sclerosis complex was found to have an enlarging renal mass on routine ultrasound. He was diagnosed with an angiomyolipoma (AML) and scheduled for close observation. Follow-up magnetic resonance imaging demonstrated the AML to be significantly enlarged and hypervascular. Selective arterial embolization of the tumor was performed, which resulted in an appropriate decrease in tumor size. Angiomyolipoma is a known and well-described complication of the tuberous sclerosis complex that is usually found among patients in their adolescent and adult years. The case presented here illustrates the need for early and repeated renal imaging of younger pediatric patients with tuberous sclerosis. Our experience adds to the literature on young pediatric patients requiring embolization for treatment of large renal angiomyolipomas.     

Giant abdominopelvic epithelioid angiomyolipoma associated with tuberous sclerosis: Report of a case

(Received for publication on July 16, 1998; accepted on Mar. 11, 1999)     

Huge renal angiomyolipomas in tuberous sclerosis complex

Tuberous sclerosis complex (TSC) is an autosomal dominance disorder with variable penetrance. Renal angiomyolipoma (AML) is one of the commonest urological manifestations. These lesions may cause significant morbidity and mortality. We report two patients with multiple and huge renal angiomyolipomas presenting with gross haematuria. They subsequently underwent unilateral nephrectomy. The difficulty in diagnosis and controversies in management will be briefly discussed.     

Chronic renal failure and its treatment in tuberous sclerosis

BACKGROUND.: Chronic renal failure is rare in tuberous sclerosis, but itsprecise frequency is not known and treatment modalities havenot been evaluated. METHODS.: A questionnaire was addressed to the 260 French dialysis centresand the characteristics of 65 patients with tuberous sclerosisand chronic renal failure were analysed. RESULTS.: In France the approximate prevalence of tuberous sclerosis withend-stage renal failure is 0.7 cases per million and that ofend-stage renal failure in tuberous sclerosis 1 per 100. Tuberoussclerosis with chronic renal failure was more frequent in females(63.1%) and was diagnosed at a mean age of 29 years. Renal impairmentwas the first manifestation of tuberous sclerosis in about halfthe cases. Renal tumours were frequent, with angiomyolipomasin 15 cases (23.1%), cysts in 12 cases (18.5%), and both in35 cases (53.8%). Malignancies were associated in nine cases(13.8%). Nephrectomy was done before dialysis in 21 cases (32.3%),and after the start of dialysis in six cases (9.2%). All butone of the 48 patients with end-stage renal failure were treatedby dialysis; 20 were transplanted, with good results. CONCLUSIONS.: Tuberous sclerosis with end-stage renal failure is rare. Thesepatients require dialysis and renal transplantation, but werecommend binephrectomy after starting dialysis and before transplantation,given the risk of cancer and bleeding related to angiomyolipomas.     

Long-term outcome of transcatheter embolization of renal angiomyolipomas due to tuberous sclerosis complex

PURPOSE: Complications from renal angiomyolipomas (AMLs) are common in patients with tuberous sclerosis complex (TSC) and tumors greater than 4 cm are more likely to cause symptoms. AMLs are the most common cause of death in adults with TSC. We present our long-term experience with transcatheter tumor embolization as a definitive treatment for AMLs due to TSC. MATERIALS AND METHODS: A total of 16 patients with TSC between 7.5 and 47.2 years old with symptomatic or large (4 to 21 cm) AMLs underwent embolization. Followup consisted of periodic physician visits or telephone contacts and renal imaging. RESULTS: The 16 patients underwent 18 treatment sessions to embolize 27 tumors. There were no intraoperative complications. The post-embolization syndrome occurred in 11 individuals but all responded to medical management. Two individuals had an arterial aneurysm within a tumor. The AML size decreased in the 13 patients who were imaged 3 months after treatment, and the 7 patients who were imaged 3 to 9 years after treatment have shown no tumor regrowth. No renal failure or hemorrhage has developed in patients following embolization. CONCLUSIONS: Transcatheter embolization of symptomatic or large AMLs due to TSC prevents hemorrhage and renal loss. The treatment is minimally invasive, preserves renal function, and can be performed multiple times. All of the patients who underwent followup renal imaging after embolization showed decreased AML size, and none of the 16 patients has developed renal loss or renal insufficiency in these individuals. Embolization should be considered the initial treatment of choice for large or symptomatic AMLs.     

Giant angiomyolipoma in a tuberous sclerosis patient and review of the literature

Introduction

About 20% of renal angiomyolipomas (RAML) are associated with tuberous sclerosis complex (TS). About 34–80% of patients with TS present with RAML. RAMLs associated with TS are at higher risk of potentially life-threatening hemorrhage and hypovolemic shock. Only a few case reports of giant RAML, defined as larger than 10?cm in diameter, and its management, have been reported.

Rapamycin therapy for renal,brain, and skin lesions in a tuberous sclerosis patient

Tuberous sclerosis complex (TSC) is an inherited multisystem disorder; it may involve kidney, brain, skin, lungs, and liver. We report a 37-year-old female TSC patient presenting with skin lesions (angiofibromas, molluscum pendulum). Radiologic examination revealed additional brain and renal lesions consisting of tumors, cysts, and angiomyolipomas. Treatment with rapamycin disclosed improvement in skin lesions. The number and volume of angiofibromas and molluscum pendulum reduced progressively in 6 months. During the ninth month of treatment, magnetic resonance imaging was repeated for renal and brain lesions. Imaging results showed reduction in tumor and angiomyolipoma volumes. Oral rapamycin therapy can improve renal, brain, and skin lesions in TSC disease. Therefore, it may be an alternative therapy for TSC patients.     

Renal angiomyolipoma in Japanese tuberous sclerosis patients

Purpose

Renal angiomyolipoma (AML) is a benign neoplasm that may grow massive in tuberous sclerosis (TS) patients. The aim of this study was to document the characteristics of renal AML in Japanese TS patients.

Methods

Medical records of 29 TS patients followed up at the authors’ center were reviewed for the presence, size, symptom, and treatment of renal AML.

Results

Twenty-four patients screened for renal AML were subdivided into 4 groups: group 0 (n = 8), no mass; group 1 (n = 5), AML less than 1 cm in diameter; group 2 (n = 4), AML 1 to 4 cm in diameter; group 3 (n = 7), AML greater than 4 cm in diameter. When present, AML always affected both kidneys and were multiple. All patients in groups 1 and 2 were symptom free, and the tumors seemed stable in size. All tumors in group 3 grew progressively causing various symptoms. Total or partial nephrectomy or transarterial embolization was performed in 5 patients with limited success.

Conclusions

AML in TS patients can be stable or aggressive. Pediatric surgeons aware of this problem should be involved in a follow-up program.     

Transarterial embolization of ruptured angiomyolipoma associated with tuberous sclerosis.

Case A 29-year-old woman, with a past history of tuberous sclerosisdiagnosed in her childhood, presented to our emergency departmentwith the acute symptoms of left flank pain. She had no feverand she was fully     

结节性硬化症相关肾错构瘤自发性破裂出血临床诊治分析

目的:探讨结节性硬化症相关肾错构瘤(TSC-RAML)自发性破裂出血的临床特点及诊治经验。方法:回顾性分析2009年1月~2014年9月收治的14例TSC-RAML自发性破裂出血患者的临床资料:男4例,女10例,年龄15~40(29.43±7.4)岁。所有患者均行肾脏彩色多普勒超声、腹部增强CT、血常规、尿常规及肝肾功能检查,部分患者行其他部位影像学检查,均符合2012国际TSC共识大会指南诊断标准。10例患者行输血、输液等保守治疗,3例行选择性肾动脉栓塞,1例行肾部分切除。结果:11例患者获得随访,7例病情基本稳定,偶有腰部疼痛等不适;2例患者分别服用雷帕霉素治疗近1年,病情稳定;2例患者因反复病灶出血,分别行选择性肾动脉栓塞术及肾部分切除术。结论:TSC-RAML多见于青年女性,双侧、多发,发病年龄小,进展速度快,出血风险高,而肾功能多在正常水平。对于TSC-RAML自发性破裂出血的治疗,原则上应该尽可能保留肾功能,对生命体征稳定者宜选择保守治疗,否则宜在支持治疗的同时行选择性肾动脉栓塞;手术为最后选择。