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。     

"Hot" KTP-laser treatment of facial angiofibromata

BACKGROUND AND OBJECTIVE: Treatment of facial angiofibromata (AF) relied largely upon cutaneous resurfacing. While effective, resurfacing affects large areas with attendant risks of dyspigmentation, infection, and scarring. We investigated the pulsed KTP (532 nm) laser energy for its high absorption by melanin and hemoglobin as a photothermal destructive method for treating AF. STUDY DESIGN/MATERIALS AND METHODS: In five patients (Fitzpatrick phototypes II-;VI), AF were treated with the KTP laser (10 ms, 20 J/cm(2), 2 mm beam) using stacked pulses (2-3.3 Hz) or passes. No cooling device was employed. Each pulse evoked puffs of steam and caused progressive flattening of AF. Normal intervening skin was strictly avoided. Patients underwent one to five sessions in which as many as 100 lesions were treated. RESULTS: Individual lesions responded with complete flattening in one or two treatments. While this effect has persisted for 18-;24 months, slow recrudescence is expected. Transient hypopigmentation and hyperpigmentation were localized to treated skin. No scarring, infection, or other adverse events were observed. Patient satisfaction with this method was high due to rapid healing time ( < 10 days), minimal pain, ease of wound care, and efficacy. CONCLUSIONS: "Hot" KTP laser is an effective and safe method of treatment for facial AF. Limiting treatment only to lesional skin allowed rapid healing and very limited adverse effects despite the increased non-specific thermal damage caused by high fluence, long pulse duration, and an absence of superficial tissue cooling.     

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.     

Emergency embolization of actively bleeding renal angiomyolipoma in a patient of tuberous sclerosis

Renal angiomyolipoma is a benign hamartomatous lesion which contains varying proportions of abnormal blood vessels along with muscle and fat component. Tuberous sclerosis predisposes to angiomyolipoma, and when associated, the lesion is often large with increased risk of hemorrhage and complications. When this occurs, transarterial embolization and surgery are the treatment options. Such a patient presented to us with acute onset of symptoms, and on account of severe anemia with active bleeding, transarterial embolization was performed. This was followed by elective nephrectomy without any complications. We present the imaging aspects of tuberous sclerosis and emphasize role of interventional radiology in this case.     

Developing multiple lung nodules in a renal transplant recipient with tuberous sclerosis who had undergone bilateral nephrectomy due to renal cell carcinomas

Abstract:   A 38-year-old woman, who had been diagnosed as having tuberous sclerosis (TSC), incidentally presented with asymptomatic multiple pulmonary nodules detected by computed tomography during immunosuppressive therapy for 6 years after renal transplantation. The recurrence of renal cell carcinoma (RCC) was suspected because the patient underwent bilateral nephrectomies due to RCC in dialysis kidneys before transplantation. However, the lung biopsy specimen was diagnosed as multifocal micronodular pneumocyte hyperplasia (MMPH), which is an extremely rare benign lung involvement in TSC. It is necessary to consider MMPH in the differential diagnosis when lung nodules are observed in TSC patients.     

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.     

Renal involvement in tuberous sclerosis complex: a retrospective survey

In a retrospective survey performed in Germany and Switzerland, 207 patients (ranging in age from newborn to 70 years) were evaluated in order to establish the frequency, prognosis and diagnostic awareness of kidney involvement in the tuberous sclerosis complex. Renal manifestations were observed in 48% of patients: renal cysts (33 patients), renal angiomyolipoma (AML) (30 patients), a combination of both (8 patients), renal cell carcinoma (3 patients), life-threatening events such as haemorrhage (4 patients), hypertensive crisis (2 patients) and chronic renal failure (10 patients) were also documented. The diagnostic imaging techniques of ultrasonography, intravenous urography, computed tomography and magnetic resonance imaging (MRI) are important but do not always yield definitive information. Differentiation between AML and cysts can be achieved using special MRI techniques (RARE). The potential for renal involvement should be monitored in all patients with the tuberous sclerosis complex.Participating centres and principal investigators (in alphabetical order): Altötting, PD Dr. R. Schmid; Berlin, Charité, Prof. Dévaux; Bern, Dr. Penzien; Bonn, PD Dr. Zerres; Dortmund, Humangenetisches Institut; Dresden, Prof. P. Lorenz; Erlangen, Prof. H.-P. Rott; Freiburg, PD Dr. L. B. Zimmerhackl, Dr. Rehm; Hannover. Prof. J. Brodehl; Heidelberg, Prof. K. Schärer, Fr. Dr. Wingen; Jena, Prof. Misselwitz; Karlsruhe, Prof. Schindera; Leipzig, Prof. Theile, Dr. Wässer; Lübeck, Dr. Kirschstein; Lüdenscheid, Prof. Weber; Marburg, Dr. Nolte; Münster, Dr. Kurlemann, Prof. Bulla; Neuwied, Dr. Gellisen; Rostock, Doz. Dr. Stolpe; Stuttgart, Dr. Köhler, Dr. Holder.     

An epidemiological study of renal pathology in tuberous sclerosis complex

OBJECTIVES: To report the frequency of renal symptoms and complications of patients with tuberous sclerosis complex (TSC), to describe the ultrasonographic appearance of the kidneys in a population-based sample, and to investigate the relationship between a history of renal haemorrhage and renal lesions identified by ultrasonography. PATIENTS AND METHODS: As part of an epidemiological study, 179 patients with TSC were identified as living in the Wessex Region in the South of England. Patients were interviewed and examined in their homes, to elicit the presence of renal symptoms or a history of renal complications. Renal ultrasonography was used in consenting patients in their homes. RESULTS: There was a history of renal complications in 16 (9%) patients; 149 consented to interview and examination, and 19 gave a history of renal symptoms in the previous year; 124 had renal ultrasonography; 86 (69%) had renal angiomyolipomas and 37 (30%) had renal cysts. Large lesions (>3 cm in diameter) were strongly associated with a history of symptomatic bleeding, although significant haemorrhage occurred in a 6-year-old child with small angiomyolipomas. CONCLUSIONS: The formation of angiomyolipoma in TSC is common. Polycystic kidney disease, renal carcinoma and renal failure, although rare, occur in TSC. Most patients with angiomyolipomas have neither complications nor symptoms. There was no appreciable difference between the sexes in the risk of developing these lesions. Although less commonly seen in the very young, there is no identifiable relationship after adolescence between age and the risk of having a renal angiomyolipoma. Bleeding tends to occur from large lesions (>3 cm) but most such patients have remained asymptomatic to date.     

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.     

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。     

Chronic renal failure in India

In a series of 2028 patients with chronic renal failure, thediseases leading to renal failure, the presence or absence ofreversible factors and their nature, and the rate of declineof renal function of the most common conditions have been describedand analysed. Seven diseases: chronic interstitial nephritis(27.85%), diabetic nephropathy (26.76%), chronic glomerulonephritis(18.20%), benign nephrosclerosis (10.06%), chronic pyelonephritis(7.29%), focal glom erulosclerosis (3.20%), and autosomal dominantpoly cystic disease of the kidneys (2.07%), accounted for 95.43%of all the patients. These diseases were studied in greaterdetail and the results are presented here. It was found thatthere was a great variation in the rate of decline of renalfunction in the different groups, with chronic glomerulonephritisand focal glomerular sclerosis progressing most rapidly, diabeticnephro pathy slightly slower, and the others at a less alarmingpace. However, once serum creatinine had reached 177 µmol/lthere was an inexorable decline in renal function and the endstage was reached in almost all patients.     

原发性腹膜后血管周上皮样细胞瘤合并肾错构瘤及结节性硬化1例报告并文献复习

目的 探讨原发性腹膜后血管周上皮样细胞瘤（PEComa）的临床病理特点及诊断治疗。方法 报告2009年4月北京协和医院基本外科诊治的位于盆腔的原发性腹膜后PEComa1例病人的症状、影像、病理、治疗及随访情况,并结合文献进行分析。结果 术前无特异临床症状,为查体发现。术前容易通过影像学手段发现但难以确诊。最终诊断依靠病理学表现和免疫组化。文献报道的原发性腹膜后PEComa非常罕见。结论 原发性腹膜后PEComa是一种非常罕见的间叶组织肿瘤,依靠病理学方法诊断。其生物学行为不明确,建议术后长期随访。     

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.     

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.     

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.