Spontaneous subcapsular or perirenal haemorrhage caused by renal tumours. A urological emergency

OBJECTIVE: Spontaneous perirenal haemorrhage is a rare abdominal emergency most commonly caused by solid renal tumours. The aim of this study was to evaluate the efficacy of different diagnostic methods and treatment modalities. MATERIAL AND METHODS: A total of 9 patients (5 women and 4 men) with spontaneous subcapsular or perirenal haemorrhage caused by renal tumours were treated at two Finnish central hospitals over a period of 20 years. RESULTS AND CONCLUSIONS: All the patients presented with flank pain, often severe and associated with a palpable mass and a reduced haemoglobin concentration. Ultrasonography was abnormal in all cases where it was used, but was able to show the tumour and haemorrhage correctly in only one case (13%). Computed tomography had a sensitivity of 71%. Seven patients underwent extrafascial nephrectomy (5 renal cell cancers, 1 malignant oncocytoma and 1 angiomyolipoma) and two with known tuberous sclerosis and bilateral renal angiomyolipomas were treated by superselective embolization. As these few cases were all individual and were collected over a long period of time, general statements about diagnosis and treatment must be approached critically. It may be concluded, however, that spontaneous perirenal haemorrhage is often a surgical emergency necessitating great efforts in terms of diagnosis and treatment. Computed tomography should be performed on all patients nowadays. If the bleeding is caused by a malignant tumour, extrafascial nephrectomy is the treatment of choice. For those with benign tumours selective embolization should be used.     

Renal hamartoma. Arteriographic findings suggesting hypernephroma

Renal hamartoma (angiomyolipoma) is a rare, benign lesion which may occur in association with tuberous sclerosis or as an independent clinical entity. Characteristic angiographic features of renal hamartoma have been described; but in patients who do not have tuberous sclerosis, they are rarely present. Rather the lesion may present angiographic findings characteristic of hypernephroma. A case is described.     

Nephron-sparing surgery in multiple bilateral angiomyolipomas

We report on a 17-year-old white woman with multiple bilateral renal angiomyolipomas (AMLs) in the absence of tuberous sclerosis. Multiple hyperdense lesions were detected in both kidneys by sonography. A computed tomography (CT) scan confirmed mainly fatty tissue. Sparing as much functional tissue as possible, eight AMLs of the right kidney were resected. The largest removed tumour measured 7 x 4 x 2.4 cm. Renal function was completely preserved. An AML is a benign, generally unilateral renal tumour. Treatment is necessary in cases of flank pain, spontaneous bleeding, obstruction by tumour growth and tumours exceeding 4 cm in diameter. Patients who present are often symptomatic due to pain, retroperitoneal bleeding or haematuria. An AML occurs either sporadically or in association with tuberous sclerosis. Bilateral or unilateral multiple AMLs are rare.     

Conservative management of giant symptomatic angiomyolipomas in patients with the tuberous sclerosis complex

OBJECTIVE: To present two patients with the tuberous sclerosis complex in whom giant angiomyolipomas (AMLs) were managed conservatively for >20 years, as large (>4 cm) symptomatic AMLs are generally treated with embolization or nephrectomy because of the risks of haemorrhage. PATIENTS AND METHODS: The first patient initially presented with bilateral renal AMLs replacing >70% of his parenchymal volume, and a large left renal cyst. Since presentation he was hospitalized three times, but has had no transfusions or procedures to treat his AMLs. His renal function has remained stable during this 21-year interval. The second patient initially presented with bilateral renal AMLs that were not amenable to nephron-sparing surgery. After removing her nonfunctioning left kidney, the 24-cm AML in her right kidney was managed conservatively for >20 years, during which she had 44 transfusions and 11 hospitalizations before uncomplicated right nephrectomy and subsequent need for haemodialysis. CONCLUSION: Conservative management of AMLs can preserve renal function for >20 years in patients with tuberous sclerosis at high risk of end-stage renal disease.     

Diagnosis and treatment of renal angiomyolipoma

A series of nine patients surgically treated for histologically verified renal angiomyolipoma is presented. Only one patient had extrarenal stigmata of tuberous sclerosis. No evidence of malignancy was found. In three cases a preoperative diagnosis was achieved with computed tomography (CT), use of which is recommended in evaluation of renal tumours. Six angiomyolipomas were solitary and three bilateral. Abdominal or flank pain was present in eight cases and perirenal haemorrhage in four. Solitary tumours were treated with nephrectomy. For bilateral tumour, nephrectomy and conservative renal surgery were used in two cases and bilateral nephrectomy and kidney transplantation were performed in the third case. When adipose tissue containing renal tumour is demonstrated at CT, conservative surgery should be considered.     

Angiomyolipoma: clinical metamorphosis and concepts for management

In 10 years the diagnosis of renal angiomyolipoma was made in 44 patients (female-to-male ratio 8:1) at our institution; 4 cases were associated with tuberous sclerosis. Of these patients 29 underwent surgical exploration because of a renal mass; 11 patients with renal masses that were consistent with angiomyolipoma radiologically have not undergone exploration. Of the 4 patients with and the 29 patients without tuberous sclerosis 1 (25 per cent) and 2 (7 per cent), respectively, had renal cell cancer in association with angiomyolipoma. Metachronous involvement of the contralateral kidney has not been noted in any of our patients who underwent nephrectomy for unilateral involvement, nor has there been progression of the contralateral lesion in 3 patients with bilateral disease without tuberous sclerosis during a followup of about 6 years. Furthermore, we have not noted progression of lesions in the 11 patients under observation for a mean followup of almost 3 years. We recommend elective exploration and a renal preserving operation when possible, not only for patients with pain and hemorrhage but also for the complex multiple lesions occasionally seen in patients who do not have tuberous sclerosis. Lesions associated with tuberous sclerosis require surgical intervention only when they become symptomatic or enlarge silently.     

Renal angiomyolipoma: 6 case reports and literature review

We report 6 cases of renal angiomyolipomas and review the pertinent literature concerning this disease. One case involved the rare association of tuberous sclerosis and pregnancy. Another patient without tuberous sclerosis had renal cell carcinoma and later suffered a contralateral angiomyolipoma. The pathological conditions of renal angiomyolipomas with and without tuberous sclerosis are discussed. Since angiomyolipomas present with multiple clinical similarities to renal cell carcinoma, the primary task for the clinician is to differentiate this hamartoma from carcinoma. The distinguishing characteristics and the clinical management of renal angiomyolipomas are discussed.     

Angiomyolipomata: challenges,solutions, and future prospects based on over 100 cases treated

Study Type – Therapy (case series) Level of Evidence 4

OBJECTIVE

To examine the presentation, management and outcomes of patients with renal angiomyolipoma (AML) over a period of 10 years, at St George’s Hospital, London, UK.

PATIENTS AND METHODS

We assessed retrospectively 102 patients (median follow‐up 4 years) at our centre; 70 had tuberous sclerosis complex (TSC; median tumour size 3.5 cm) and the other 32 were sporadic (median tumour size 1.2 cm). Data were gathered from several sources, including radiology and clinical genetics databases. The 77 patients with stable disease were followed up with surveillance imaging, and 25 received interventions, some more than one. Indications for intervention included spontaneous life‐threatening haemorrhage, large AML (10–20 cm), pain and visceral compressive symptoms.

RESULTS

Selective arterial embolization (SAE) was performed in 19 patients; 10 received operative management and four had a radiofrequency ablation (RFA). SAE was effective in controlling haemorrhage from AMLs in the acute setting (six) but some patients required further intervention (four) and there was a significant complication rate. The reduction in tumour volume was only modest (28%). No complications occurred after surgery (median follow‐up 5.5 years) or RFA (median follow‐up 9 months). One patient was entered into a trial and treated with sirolimus (rapamycin).

CONCLUSIONS

The management of AML is both complex and challenging, especially in those with TSC, where tumours are usually larger and multiple. Although SAE was effective at controlling haemorrhage in the acute setting it was deemed to be of limited value in the longer term management of these tumours. Thus novel techniques such as focused ablation and pharmacological therapies including the use of anti‐angiogenic molecules and mTOR inhibitors, which might prove to be safer and equally effective, should be further explored.     

Management of renal angiomyolipoma: a report of 53 cases

OBJECTIVE: To evaluate the clinical, therapeutic and prognostic aspects of renal angiomyolipoma (AML) in patients either monitored by clinical and radiological follow-up or treated by surgical therapy. PATIENTS AND METHODS: Fifty-three patients with renal AML were divided in two groups; 33 patients in group 1 were monitored by annual clinical and ultrasonographic follow-up and 20 in group 2 were treated with surgical therapy. Two patients had tuberous sclerosis (TS) with synchronous bilateral and multiple lesions. Apart from the patients with TS, there were 38 lesions in group 1 and 25 in group 2. The mean (range) follow-up of group 1 was 60.2 (12-164) months. RESULTS: In group 1, the diagnosis was most often incidental, after ultrasonography performed for symptoms unrelated to AML. In group 2, the suspicion of a malignant renal lesion, and spontaneous tumour rupture with bleeding and perirenal haematoma, were the main indications for surgical treatment. The mean lesion diameter was significantly greater in group 2 (5.4 cm) and in symptomatic patients (8.1 cm). In group 1, 92% of renal AMLs showed no radiographic changes, serious complications or new renal or extrarenal lesions during the follow-up. Only three lesions grew, after 22, 85 and 164 months, respectively. Of the 20 patients in group 2, 14 underwent conservative surgery. CONCLUSION: Small (<4 cm) isolated AMLs, detected incidentally, showed a low risk of developing during long-term follow-up. Such patients may be followed conservatively by ultrasonography every 2 years. Spontaneous perinephric haemorrhage is related to the size of the lesion. When surgery is indicated (by symptoms or diagnostic doubt), a conservative procedure can be performed in most of cases.     

Symptomatic renal angiomyolipoma: report of 8 cases, 2 with spontaneous rupture

Of the 97 patients with symptomatic renal angiomyolipoma not associated with tuberous sclerosis reported in the literature 13 have presented with a clinical picture of shock because of spontaneous rupture and massive retroperitoneal hemorrhage. Eight new patients with symptomatic renal angiomyolipomas are described, 2 of whom presented with an acute abdomen. Renal angiomyolipomas are essentially benign tumors. Several angiographic and pyelographic characteristics have been described but none appears to be unequivocally diagnostic. Because of the inability to make a precise preoperative diagnosis and the possibility of massive hemorrhage, nephrectomy is indicated in patients with such unilateral solid tumors in the absence of the tuberous sclerosis complex.     

Hématome rétropéritonéal spontané : cause rare de choc hémorragique

A spontaneous retroperitoneal haematoma is an uncommon cause of haemorrhagic shock. We report a case of spontancous rupture of a renal angiomyolipoma resulting in haemorrhagic shock in a 52-year-old woman. The renal tumor was recognized by sonography and diagnosed by CT-scan. Renal angiography was performed, but embolization was not successful. During the surgical procedure, nephrectomy was required because of persistent bleeding, related to disseminated intravascular coagulation. Outcome was uneventful. Diagnosis and treatment of renal angiomyolipoma are discussed. The Lenk's triad, consisting of acute lumbar pain, symptoms of internal bleeding and lumbar tumefaction, is the usual clinical picture of retroperitoneal haemorrhage. The kidney is the most frequent cause and renal angiomyolipoma is the most frequent benign tumor. Renal angiomyolipoma is either isolated or associated with tuberous sclerosis in up to 20 per cent of patients. Diagnosis is suggested by sonography and confirmed by CT-scan. Renal angiography, performed in haemodynamically stable patients, shows the origin of bleeding and allows embolization. Considering the frequent bilaterality of angiomyolipoma, surgery should be as conservative as possible in order to preserve renal function.     

Renal cell carcinoma associated with tuberous sclerosis: a case report

Renal angiomyolipoma associated with tuberous sclerosis is well known. On the other hand, few cases of renal cell carcinoma in connection with tuberous sclerosis have been reported. We report a patient with tuberous sclerosis whose kidney was involved with renal cell carcinoma. A 18-year-old woman was first admitted in August 1987 for evaluation of left renal tumor. Diagnosis of tuberous sclerosis was made when she was 11 years old on the basis of mental retardation, papules on her face, seizures, white leaf-shaped macules and periventricular calcifications. Computerized tomographic scan demonstrated a large mass arising from the left kidney and small masses in the right kidney. Angiography confirmed bilateral hypervascular renal tumors. On these bases, a clinical diagnosis of bilateral renal angiomyolipomas was made and surgical treatment of the left kidney was recommended because of its large size. However, her parents did not permit treatment until March, 1988. Finally, left nephrectomy of 4,750 g was performed and histological examination revealed renal cell carcinoma with clusters of spindle cells. In the literature available to us, we found twelve reports of malignant renal tumors associated with tuberous sclerosis including five renal cell carcinomas in Japan.     

Renal failure secondary to angiomyolipoma. Case of Forme-Fruste tuberous sclerosis

A fifty-four-year-old woman without the clinical features of tuberous sclerosis underwent nephrectomy at age thirty-three years for angiomyolipoma, and twenty-one years later severe renal failure developed. At necropsy the remaining kidney had extensive angiomyolipomatous involvement; not until the brain was examined was the diagnosis of tuberous sclerosis made. To date, this would appear to be the third case without clinical tuberous sclerosis in which renal involvement was the sole clinical expression of tuberous sclerosis, and the seventh reported instance of renal failure due to renal angiomyolipomatous hamartomatous transformation.     

RENAL LESION GROWTH IN CHILDREN WITH TUBEROUS SCLEROSIS COMPLEX

Purpose

Renal lesions, including angiomyolipoma, renal cysts (simple and polycystic kidney disease) and renal cell carcinoma, develop in patients with tuberous sclerosis complex. While there is limited information that these lesions may grow in adults with tuberous sclerosis complex, the incidence, characterization and growth rate in children have not been reported. Also, the age at which these lesions first appear, thus providing insight into their natural history, is unknown. We present our data from a longitudinal renal surveillance study of children with tuberous sclerosis complex.

Materials and Methods

Since 1985 children with tuberous sclerosis complex at our hospital have undergone periodic renal imaging by ultrasonography or computerized tomography to monitor renal lesions. A total of 35 girls and 25 boys 1 to 18 years old have undergone at least 2 or more annual renal ultrasounds.

Results

On initial evaluation 33 of 60 children (55%) (mean age 6.9 years) had an identifiable renal lesion, which increased to 48 of 60 (80%) at followup (mean age 10.5 years). Angiomyolipoma was the most frequent lesion (75%) followed by simple renal cysts (17%). Angiomyolipomas increased in size and/or number in 10 of 18 boys (56%) and 18 of 27 girls (66%). The largest growth rate in 1 year was from 0 to 4 cm. and from 5 to 9 cm. in diameter. The youngest patient demonstrated lesions at age 2 years. The average age at which a normal ultrasound became abnormal was 7.2 years. While a total of 27 patients had a normal ultrasound on entering the study, lesions had developed in 15 at followup (11 with angiomyolipomas, 4 with cysts). Five patients had cysts that had disappeared at followup. A 7-year-old boy had a 9 cm. renal cell carcinoma removed. One patient has renal lesions characteristic of autosomal dominant polycystic kidney disease.

Conclusions

Renal involvement in patients with tuberous sclerosis complex begins in infancy, and angiomyolipoma is the most common lesion (75%). Angiomyolipomas are more likely to grow than remain stable, although the rate of growth varies. Simple renal cysts may appear or disappear with time but angiomyolipomas do not disappear. An initially normal renal ultrasound does not rule out future development of lesions. Periodic surveillance is indicated in children with tuberous sclerosis complex.     

Renal angiomyolipoma: report of 24 cases

A series of 24 patients with renal angiomyolipoma was reviewed. Their ages ranged from 10 to 70 years (average 41). Four cases were associated with tuberous sclerosis, 1 with spinal neurilemmoma, 1 with transitional cell carcinoma and another with renal tuberculosis. The presenting symptoms in decreasing frequencies were flank pain, mass, haematuria, fever, syncope and respiratory distress. Although it has often been said that angiomyolipomas associated with tuberous sclerosis are small and asymptomatic, all 4 such patients in this study had large symptomatic tumours. Before the advent of CT scan and ultrasonography, the pre-operative diagnostic rate for cases unassociated with tuberous sclerosis was 10% (1/10). With the combined use of these 2 modalities, the diagnostic rate increased to 60% (6/10). Most patients in this series were treated with nephrectomy. However, equally good outcomes occurred in 2 patients who received partial nephrectomies. Pre-operative diagnosis now makes it possible to consider more conservative management.     

Bilateral Chromophobe Cell Renal Carcinoma in Tuberous Sclerosis Comple

We report on a patient with tuberous sclerosis complex and polycystic kidney disease who developed bilateral chromophobe cell renal carcinoma. We discuss the tuberous sclerosis complex, associated bilateral renal cell carcinoma, polycystic kidney disease and chromophobe cell renal carcinoma; a recently established subtype with a rather favorable prognosis.
In a patient with tuberous sclerosis complex and multiple space-occupying lesions, a diagnosis of angiomyolipoma should be considered first but bilateral and/or multifocal renal cell carcinoma is a likely diagnosis.     

Clinical and molecular insights into tuberous sclerosis complex renal disease

Patients with tuberous sclerosis complex are at great risk of developing renal lesions as part of their disease. These lesions include renal cysts and tumors. Significant advances in understanding the cell biology of these renal lesions has already led to clinical trials demonstrating that pharmacological interventions are likely possible. This review focuses on the pathology of these renal lesions, their underlying cell biology, and the possible therapeutic strategies that may prove to significantly improve care for these patients.     

Symptomatic bilateral renal angiomyolipomas in a child

We report a case of bilateral renal angiomyolipomas in a child with Bourneville's tuberous sclerosis. The case is unusual because of the early age of the patient at which symptoms occurred. The presentation and treatment are discussed, and the literature is reviewed. Renal disease can occur in young patients with tuberous sclerosis and it is of clinical importance to document renal involvement in these children.     

The tuberous sclerosis complex and its highly variable manifestations

PURPOSE: Tuberous sclerosis is an autosomal dominant neurocutaneous syndrome affecting multiple organ systems and demonstrating highly variable clinical manifestations. Mutations in 2 tumor suppressor genes, TSC1 and TSC2, are linked to the evolution of the hamartomatous lesions. We describe the incidence and epidemiology, variable clinical manifestations and their relationships to renal pathology, and the management of morbid sequelae. MATERIALS AND METHODS: Using the search term tuberous sclerosis, we performed a MEDLINE search of the literature identifying 3,196 articles and selected those from urological, surgical, oncological, genetic and pediatric journals. Special focus was placed on the incidence and management of renal lesions and on different clinical manifestations and how they relate to renal tumors. RESULTS: Due to improved identification of the variable phenotypic expression, the reported incidence has increased. TSC1 and TSC2 mutations are related to various phenotypic manifestations and risks of malignancy, such as an increased incidence of the TSC2 mutation in patients with renal cell carcinoma. Renal sparing surgery and selective embolization techniques have mitigated the morbidity of the lesions. CONCLUSIONS: We now have a better understanding of the variability at the genotypic and phenotypic levels of the disease. We recommend that patients with tuberous sclerosis complex be evaluated by a multidisciplinary group of clinicians, including urologists, dermatologists, neurologists, pediatricians and geneticists. Close attention to these manifestations is necessary to ensure appropriate treatment of the sequelae of the tuberous sclerosis complex.     

双肾血管平滑肌脂肪瘤伴结节性硬化症的诊断治疗

目的总结双肾血管平滑肌脂肪瘤(RAML)伴结节性硬化症(TSC)的发病特点,以提高该病的诊治水平。方法回顾性分析4例双RAML伴TSC患者的临床资料。结果4例患者经B超、CT检查诊断。1例因左肾肿瘤出血行肾切除,1例因右肾肿瘤巨大行肾切除。另2例患者因肿瘤小且症状轻微行保守治疗,随访12~48个月,肿瘤大小无变化,无症状复发。结论B超、CT检查结合临床表现是诊断RAML伴TSC的重要手段。治疗方案应根据双肾肿瘤的大小、分布、发展情况及症状决定。手术时应注意保留正常肾组织,保护肾功能。