Tuberous Sclerosis Complex Renal Disease

Dixon, Bradley P.; Hulbert, John C.; Bissler, John J.

doi:10.1159/000320891

Cited by 138 publications

(79 citation statements)

References 74 publications

(41 reference statements)

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“…No clear data are found in the literature regarding the incidence of hypertension in the TSC population [41]. Recent data on PKD patients demonstrated the benefit of good blood pressure control on renal prognosis in adults [47] and in children [48].…”

Section: Renal Outcomementioning

confidence: 99%

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Tuberous sclerosis complex: the past and the future

2014

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Renal lesions represent the second most significant cause of morbidity and mortality in patients with tuberous sclerosis complex (TSC). Recent advances in the understanding of the pathophysiology of TSC have led to the exploration of new potential therapeutic targets. Clinical trials with mammalian target of rapamycin (mTOR) inhibitors have demonstrated promising results for several indications, such as renal angiomyolipoma, subependymal giant cell astrocytoma, lymphangioleiomyomatosis and facial angiofibromas. Currently, there is a scarcity of natural history data and randomized, placebo-controlled clinical trials on TSC. Recently, however, recommendations for the diagnostic criteria, surveillance, and management of TSC patients have been updated. This review focuses on these novel recommendations and highlights the need for multidisciplinary follow-up of this multi-systemic disease.

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Section: Renal Outcomementioning

confidence: 99%

“…In the case of angiomyolipomas larger than 3.5 to 4 cm, renal arterial embolization followed by corticosteroids, or kidneysparing surgery, is used to avoid total nephrectomy [3,41,82]. However, even embolization and kidney-sparing surgery have a high incidence of complications and increased risk of CKD, related to nephron loss.…”

Section: Renal Manifestationsmentioning

confidence: 99%

Tuberous sclerosis complex: the past and the future

2014

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“…TSC was originally identified as a neurological and dermatological disorder; however, renal disease is the leading cause of mortality in adults with TSC (11), as AMLs exhibit a high risk of hemorrhage and may invade adjacent normal renal parenchyma, which leads to chronic kidney disease and end stage renal disease (12). The etiologies of AMLs with and without TSC are different.…”

Section: Introductionmentioning

confidence: 99%

Tuberous sclerosis complex-associated renal angiomyolipomas: A single center study of 17 consecutive cases

et al. 2016

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Abstract. The aim of the present study was to investigate the treatment options for patients with tuberous sclerosis complex (TSC)-associated renal angiomyolipomas (AMLs). A total of 17 patients who were consecutively diagnosed with TSC-associated renal AMLs at the Department of Urology of Zhongshan Hospital between 1998 and 2012 were included in the study. The patient cohort included 7 males and 10 females with a mean age of 37.6 years (range, 18-62 years). A total of 12 patients were diagnosed with renal AML with TSC during physical examination (PE), while 5 patients were admitted to the Emergency Department of Zhongshan Hospital due to spontaneous rupture of renal AMLs. All renal lesions were examined by ultrasonography and abdominal computed tomography prior to treatment. The primary outcome measure was the kidney reservation rate (patients that had not received nephrectomies) in the rupture group and PE group. Both abdominal ultrasonography and CT revealed AMLs in all patients and the mean tumor size was 10.0±4.0 cm (range, 3.0-17.5 cm). Overall, 9 patients underwent surgery, which included unilateral nephrectomy in 4 patients and unilateral partial nephrectomy/tumor enucleation in 5 patients. The remaining 8 patients received medical treatment. All patients were followed-up for between 10 and 67 months. One patient succumbed as a result of multiple organ failure, which was caused by hypovolemic shock due to the spontaneous rupture of renal AML. The kidney reservation rate during surgery was 87.5% (7/8) in the PE group and 25% (1/4) in the spontaneous rupture group. The management of TSC-associated renal AMLs differs from that of solitary sporadic AMLs. Surgical therapy is recommended following careful risk-benefit analysis.

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“…Tuberous sclerosis complex is characterized by the development of multiple hamartomas and benign or rarely malignant neoplasms, especially in the brain, skin, retina, kidney, heart, and lungs. Tuberous sclerosis complex is associated with some tumors in the PEComa family, including cardiac rhabdomyomas, 16,17 renal angiomyolipomas, 18,19 and lymphangioleiomyomatosis. 20,21 Our patient had no documented history of tuberous sclerosis complex or manifestations suggestive of tuberous sclerosis complex.…”

Section: Microscopic Examinationmentioning

confidence: 99%

Malignant Perivascular Epithelioid Cell Tumor of the Gallbladder: A Case Report and Review of Literature

Zhao

Anders

2014

Archives of Pathology &Amp; Laboratory Medicine

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Immunohistochemically, the perivascular epithelioid cells show positivity for melanocytic markers, such as HMB-45 and Melan-A, as well as smooth muscle markers, such as actin and myosin.1 Here, we report the first case of a malignant PEComa arising in the gallbladder. REPORT OF A CASEThe patient was a 46-year-old woman who was diagnosed with high-grade invasive ductal carcinoma of the left breast showing left sentinel node metastasis in 2010. Both estrogen and progesterone receptor status were negative by immunohistochemistry. She received 4 cycles of preoperative chemotherapy, followed by left mastectomy and left axillary lymph node dissection. She then received adjuvant chemotherapy, as well as regional radiotherapy. In September 2012, the patient presented with right upper quadrant pain. An ultrasound of the abdomen suggested a primary gallbladder wall malignancy with regional nodal metastasis and possible hepatic invasion. A computed tomography scan of the abdomen and pelvis revealed a gallbladder mass extending into the pericholecystic fat and inseparable from the liver, with an enlarged portacaval lymph node measuring up to 3.3 cm with mild compression of the inferior vena cava (Figure 1, A). A computed tomography scan of the chest showed no evidence of distant metastatic disease. She subsequently underwent an open cholecystectomy in October 2012. Macroscopic ExaminationThe cholecystectomy specimen weighed 62.2 g and consisted of a previously opened gallbladder resected en bloc with its underlying 6.5 3 4.0 3 2.5-cm liver bed. The fixed gallbladder measured up to 11.0 cm. There was a large tumor mass within the lumen of the gallbladder that measured 5.5 3 4.5 3 3.3 cm (Figure 1, B). The tumor was arising in the fundic portion of the gallbladder and grossly did not extend closer than 4.0 cm from the cystic duct resection margin. The tumor invaded the wall of the gallbladder. Aside from this large tumor the gallbladder mucosa was otherwise normal. No calculi were identified. Microscopic ExaminationThe tumor infiltrated through the full thickness of the gallbladder wall. It abutted the serosa, but the tumor cells were separated from the serosal surface by a thin strand of connective tissue. The neoplastic cells were epithelioid and characterized by clear to granular, lightly eosinophilic cytoplasm and small, centrally located, normochromatic, round to oval nuclei (Figure 2, A and B). The nuclei showed slight variation, and most demonstrated small nucleoli. The cells had fairly distinct cell borders and were arranged as nests and sheets. Scattered mitotic figures were noted. There was no evidence of necrosis or hemorrhage. Clearly defined lymphovascular space invasion was present. Aside from the fundic tumor, the remaining gallbladder mucosa, including cystic duct sections, was benign. There were small nodules of tumor in the liver with similar morphology, underlying the gallbladder, which did not involve the resected margin of the liver. Contiguous spread between the liver tumor and the gallbladder tumor was...

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Tuberous Sclerosis Complex Renal Disease

Cited by 138 publications

References 74 publications

Tuberous sclerosis complex: the past and the future

Tuberous sclerosis complex: the past and the future

Tuberous sclerosis complex-associated renal angiomyolipomas: A single center study of 17 consecutive cases

Malignant Perivascular Epithelioid Cell Tumor of the Gallbladder: A Case Report and Review of Literature

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