Renal manifestations of tuberous sclerosis complex: Incidence, prognosis, and predictive factors

Rakowski, S. K.; Winterkorn, Elisabeth B.; Paul, Elahna; Steele, David; Halpern, Elkan F.; Thiele, Elizabeth A.

doi:10.1038/sj.ki.5001853

Cited by 425 publications

(367 citation statements)

References 29 publications

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“…23 Cysts and multiple AMLs are the most common renal manifestation in TSC. 24,25 In our series, only three cases (#1, 2, and 16) had other concurrent renal tumors. In two of these, one additional classical AML each was present; however, no evidence of tuberous sclerosis syndrome was documented in these two.…”

Section: Discussionmentioning

confidence: 57%

Epithelioid angiomyolipoma of the kidney: pathological features and clinical outcome in a series of consecutively resected tumors

et al. 2013

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The 2004 World Health Organization classification of tumors defines epithelioid angiomyolipoma of kidney as a potentially malignant mesenchymal neoplasm with reported metastasis in approximately one-third of the cases. However, this conclusion was based primarily on individual case reports and small retrospective series. More recently reported larger series have shown varying results. We reviewed 437 consecutive renal angiomyolipomas with primary resection at three tertiary-care institutions with high nephrectomy volumes. Only tumors showing 480% epithelioid histology were included in this study. Tumors resected elsewhere and reviewed in consultation were not included. Twenty of these 437 (4.6%) were classified as epithelioid angiomyolipoma. The female to male ratio was 11:9, mean age 49.7 (range, 30-80) years, and mean tumor size 8.7 (range, 1-25) cm. Microscopic tumor necrosis was present in 10 (50%) tumors and mitotic activity (range, o1-5/10 high power fields) in 8 (40%); atypical mitoses were seen in only 1 (5%) tumor. Pleomorphic ganglion-like or multinucleated giant cells were seen in 18 (90%) tumors. With a mean follow-up of 82.5 (range, 1-356) months, seventeen patients were alive with no-evidence-of-disease at the time of last follow-up; two patients died of unrelated causes with no-evidence-of-disease, and one patient (5%) developed distant metastases. Our data, based on consecutively resected angiomyolipomas with long clinical follow-up, suggests that epithelioid angiomyolipomas constitute a small proportion of all angiomyolipomas, and the rate of aggressive behavior among epithelioid angiomyolipomas, even when showing morphologic features previously reported to portend aggressive clinical behavior, is very low.

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Section: Discussionmentioning

confidence: 57%

Epithelioid angiomyolipoma of the kidney: pathological features and clinical outcome in a series of consecutively resected tumors

et al. 2013

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“…Clinically detectable renal cystic disease occurs in approximately 50% of patients with TSC associated with either the TSC1 or TSC2 gene [5][6][7] . TSC patients can have a severe very early-onset polycystic phenotype ( fig.…”

Section: Renal Cystic Disease In Tscmentioning

confidence: 99%

Tuberous sclerosis complex renal disease

Dixon¹,

Kingswood²,

Bissler³

2015

Oxford Medicine Online

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and intractable epilepsy), less than 40% of affected patients have all three features [3] . TSC most often presents with neurologic symptoms, and approximately 90% of affected individuals experience seizures and about half of patients experience cognitive impairment, autism, or other behavioral disorders. Renal manifestations are the second most common findings associated with TSC, with angiomyolipomas occurring in 80% and renal cystic disease in ϳ 50% of patients. Pulmonary involvement, specifically lymphangioleiomyomatosis (LAM), is the third most common cause of TSC-associated morbidity, occurring in approximately 35% of female TSC patients. The gender predilection in LAM is not understood.TSC is caused by mutations in either the TSC1 gene, located on chromosome 9, or the TSC2 gene, located on chromosome 16. Typically children with TSC are born with normal kidneys but develop cystic disease and angiomyolipomas as they age. Both renal cystic disease and angiomyolipomas cause chronic kidney disease (CKD), affecting approximately one million patients with TSC worldwide. Renal disease poses a significant burden on patients with TSC because of the relentless progression, morbidity, and mortality of CKD. In fact, using death certificate data Shepherd et al. [4] identified renal failure as the leading cause of death in their adult patients at the Mayo Clinic. Key WordsTuberous sclerosis complex ؒ Angiomyolipoma ؒ Renal cyst ؒ Oncocytoma ؒ Mammalian target of rapamycin complex 1 ؒ Rapamycin ؒ Sirolimus AbstractAlthough not as common as other genetic renal diseases such as autosomal dominant polycystic kidney disease, patients with tuberous sclerosis complex frequently have significant renal involvement. Recent revelations in the cell biology of these renal disease manifestations as well as effective therapies for tuberous sclerosis complex-related renal issues have heralded hope of improved renal survival and improved quality of life for the TSC patient. This review specifically addresses some of the major renal manifestations of this disease.

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“…Renin-dependent hypertension may be observed in patients with renal lesion. Rarely, chronic renal failure may develop (15,16). Since the TSC2 gene is close to the autosomal dominant polycystic kidney disease (PCKD), PCKD may also be observed in these patient (17).…”

Section: B Clinical Diagnostic Criteriamentioning

confidence: 99%

Tuberous sclerosis complex; a single center experience

Erol¹,

Savaş²,

Şekerci³

et al. 2015

Turk Arch Ped

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Aim: This study was planned with the aim of retrospectively reviewing the clinical and laboratory findings and therapies of our patients diagnosed with tuberous sclerosis and redefining the patients according to the diagnostic criteria revised by the 2012 International Tuberous Sclerosis Complex Consensus Group and comparing them with the literature. Material and Methods: Twenty patients diagnosed with tuberous sclerosis complex in the Pediatric Neurology Clinic were examined retrospectively in terms of clinical findings and therapies. The diagnoses were compared again according to 1998 and 2012 criteria. Results: It was observed that the complaint at presentation was seizure in 17 of 20 patients and hypopigmented spots on the skin in 3 of 20 patients. On the initial physical examination, findings related with the disease were found in the skin in 17 of the patients, in the eye in 5, in the kidneys in 7 and in the brain with imaging in 17. No cardiac involvement was observed in the patients. Infantile spasm was observed in 7 of the patients who presented because of seizure (n=17), partial seizure was observed in 7 and multiple seizure types were observed in 3. It was found that sirolimus treatment was given to 9 of 20 patients because of different reasons, 7 of these 9 patients had epileptic seizures and sirolimus treatment had no effect on epileptic seizures. According to 2012 diagnostic criteria, no marked change occured in the diagnoses of our patients. Conclusions: It was observed that the signs and symptoms of our patients were compatible with the literature. Molecular genetic examination was planned for the patients who were being followed up because of probable tuberous sclerosis complex. It was observed that sirolimus treatment had no marked effect on the seizure frequency of our patients. (Türk Ped Arş 2015; 50: 51-60)

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Renal manifestations of tuberous sclerosis complex: Incidence, prognosis, and predictive factors

Cited by 425 publications

References 29 publications

Epithelioid angiomyolipoma of the kidney: pathological features and clinical outcome in a series of consecutively resected tumors

Epithelioid angiomyolipoma of the kidney: pathological features and clinical outcome in a series of consecutively resected tumors

Tuberous sclerosis complex renal disease

Tuberous sclerosis complex; a single center experience

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