Renal Lesion Growth in Children With Tuberous Sclerosis Complex

Ewalt, David H.; Sheffield, Eugene G.; Sparagana, Steven; Delgado, Mauricio R.; Roach, E. Steve

doi:10.1097/00005392-199807000-00066

Cited by 73 publications

(125 citation statements)

References 21 publications

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“…Nephrectomy was performed in this patient because of hypertension and severe hemorrhage. Renal anomalies were observed in a total of 21 patients (86%) and this rate was compatible with the literature (14)(15)(16). Although most renal lesions are asymptomatic, they may lead to symptoms and renal failure with a higher rate in adulthood.…”

Section: Discussionsupporting

confidence: 89%

“…Twenty-eight (78%) of our patients had some kind of seizure. Angiomyolipomas are benign tumors that contain vascular, smooth muscle, and adipose tissues (14)(15)(16). Renal cystic disease, angiomyolipoma (renal angiolipoma), polycystic renal disease, and rarely, renal cell carcinoma are observed in 80% of pediatric patients with tuberous sclerosis.…”

Section: Discussionmentioning

confidence: 99%

“…Renal cystic disease, angiomyolipoma (renal angiolipoma), polycystic renal disease, and rarely, renal cell carcinoma are observed in 80% of pediatric patients with tuberous sclerosis. Renal lesions may lead to hypertension and chronic renal failure in untreated patients (14)(15)(16).…”

Section: Discussionmentioning

confidence: 99%

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Assessment of tumors in children with tuberous sclerosis: a single centre’s experience

et al. 2017

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Aim: As a result of mutations in TSC1 (9q34) and TSC2 (16p13.3) tumor supressor genes, the mammalian target of the rapamycin (mTor) signaling pathway is overactivated in patients with tuberous sclerosis. Abnormal cell proliferation and differentiation is responsible for the growth several different tumors. The aim of this study was to review tumors in our patients with tuberous sclerosis. Material and Methods: Thirty-six patients with tuberous sclerosis were reviewed retrospectively in terms of age, sex, family history, clinical findings, presence of tumors, and treatments. Results: Our study included 36 patients (18/18:M/F) aged between two days and 17 years with a median age of 6 years. There were hypopigmented spots in 30 patients, seizures in 28 patients, and a family history in 11 patients. Tumors related to tuberous sclerosis were renal angiomyolipomas in 21 patients, cardiac rhabdomyomas in 11, subependymal giant cell astrocytomas in seven, and non renal hamartoma in one patient. Everolimus treatment was used in only two patients because of hemodynamic instability. Conclusions: Tuberous sclerosis is a multisystemic disease characterized by the presence of various benign tumors and neurologic disorders. Renal angiomyolipomas, cardiac rhabdomyomas, and subependymal giant cell astrocytomas are commonly observed in patients with tuberous sclerosis. mTOR inhibitors such as everolimus and sirolimus have been increasingly used in the treatment of these tumors. However, the duration and optimal dose of mTOR inhibitors is still controversial and should be used in selected cases. (Turk Pediatri Ars 2017; 52: 30-4)

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Section: Discussionsupporting

confidence: 89%

Section: Discussionmentioning

confidence: 99%

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Assessment of tumors in children with tuberous sclerosis: a single centre’s experience

et al. 2017

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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%

“…A crosssectional study of TSC patients revealed an increase in angiomyolipomas during childhood and adolescence that then stabilized throughout adulthood [13] . In a longitudinal study of children with TSC, 55% of children (mean age 6.9 years) had some type of renal abnormality, and at follow-up 80% (mean age 10.5 years) had abnormalities [6] , with the most common form of involvement being angiomyolipomas. Based on their findings, the authors concluded that renal involvement begins in infancy and increases with age.…”

Section: Renal Angiomyolipomas 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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Role of mTOR inhibition in the treatment of patients with renal angiomyolipomas

Coombs

2013

Journal of the American Association of Nurse Practitioners

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Purpose To describe the role of mammalian target of rapamycin (mTOR) inhibition in the treatment of tuberous sclerosis complex (TSC) patients with renal angiomyolipoma in relation to available clinical data and clinical practice guidance for the nurse practitioner (NP). Data sources A review of the scientific literature, key clinical congresses, and key clinical trials. Conclusions TSC‐associated renal angiomyolipomas have a propensity to grow over time and predispose patients to serious and life‐threatening consequences. Surgery or invasive interventional therapies may not be the most optimal treatments because of the multiple, bilateral growth pattern of TSC‐associated renal angiomyolipomas. Targeted therapies, such as mTOR inhibitors, which have demonstrated efficacy in maintaining and reducing renal angiomyolipoma size, are of great benefit to patients. Implications for practice Treatment with everolimus, an oral mTOR inhibitor, offers patients a noninvasive pharmacotherapeutic treatment option. The NP, as a key member of the healthcare team overseeing TSC patients, must be knowledgeable about the safety and efficacy of mTOR inhibitors as their use in the patient population increases.

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Renal Lesion Growth in Children With Tuberous Sclerosis Complex

Cited by 73 publications

References 21 publications

Assessment of tumors in children with tuberous sclerosis: a single centre’s experience

Assessment of tumors in children with tuberous sclerosis: a single centre’s experience

Tuberous sclerosis complex renal disease

Role of mTOR inhibition in the treatment of patients with renal angiomyolipomas

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