Hepatic manifestations of tuberous sclerosis complex: a genotypic and phenotypic analysis

Black, ME; Hedgire, SS; Camposano, Susana; Paul, Elahna; Harisinghani, Mukesh G.; Thiele, EA

doi:10.1111/j.1399-0004.2012.01845.x

Cited by 30 publications

(20 citation statements)

References 24 publications

(38 reference statements)

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“…The prevalence of TSC in hepatic AML varies in different studies, ranging from 0% to 10% . Hepatic lesions occur in 30% of TSC patients, and include AML, cyst, haemangioma, and adenoma . Although aberrant β‐catenin express‐ion has been described in renal AML and lung lymphangioleiomyomatosis, our data indicate that aberrant β‐catenin expression is not a usual alteration in hepatic AML, and that, if it happens, it often occurs in tandem with high expression of p‐p70S6K and p‐S6.…”

Section: Discussionmentioning

confidence: 64%

Alterations of the mTOR pathway in hepatic angiomyolipoma with emphasis on the epithelioid variant and loss of heterogeneity of TSC1/TSC2

et al. 2015

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Section: Discussionmentioning

confidence: 64%

Alterations of the mTOR pathway in hepatic angiomyolipoma with emphasis on the epithelioid variant and loss of heterogeneity of TSC1/TSC2

et al. 2015

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“…In this study, the clinical phenotypes associated with TSC2 gene mutations tended to be more severe than those associated with TSC1 gene mutations. Previous studies have also indicated a higher frequency of hepatic angiomyolipomas in TSC2 patients as compared with that in TSC1 patients (14,15). However, the clinical phenotype of the disease showed wide variability, which renders it difficult to predict phenotype on an individual basis (16).…”

Section: Discussionmentioning

confidence: 99%

Phenotypic and genotypic characterization of Chinese children diagnosed with tuberous sclerosis complex

Yang,

Shi,

Meng

et al. 2017

Clinical Genetics

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We investigated the clinical phenotypes and genetic mutations in Chinese children diagnosed with tuberous sclerosis complex (TSC). Sequencing of TSC1 and TSC2 genes was performed in 117 children with TSC and their parents. Association of TSC gene mutations with clinical manifestations was investigated. All gene mutations were heterozygous including in 16 patients (13.7%) with mutations in TSC1 gene and 101 patients (86.3%) with mutations in TSC2 gene. Among the 16 patients with TSC1 gene mutations, 15 different types of mutations were found, which included 5 novel mutations; all patients had skin manifestations and epilepsy. Among the 101 patients with TSC2 mutations, 85 different types of mutations were found, which included 25 novel mutations; 97 patients (96.0%) had skin manifestations; 97 (96.0%) had epilepsy; 74 (73.3%) had intellectual disability and 25 patients (24.8%) were autistic. The clinical phenotype of the 14 children with familial TSC was more severe than that of their parents.

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“…Retinal hamartomas 30-44% [24,66] Chorioretinal hypopigmentation 39% [66] Other organ manifestations Hepatic (hepatic AML, hepatic cysts) 9.1% [21] Associated with renal AML [67,68]. These were found in 9.1% of individuals in TOSCA.…”

Section: Ocular Manifestationsmentioning

confidence: 99%

“…Usually asymptomatic hepatic manifestations (i.e., AML, cysts) are known in TSC [67] and are associated with renal AML [68]. These were found in 9.1% of individuals in TOSCA.…”

Section: Other Organ Manifestationsmentioning

confidence: 99%

A systematic review on the burden of illness in individuals with tuberous sclerosis complex (TSC)

Zöllner

Franz

Hertzberg

et al. 2020

Orphanet J Rare Dis

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Objective: This review will summarize current knowledge on the burden of illness (BOI) in tuberous sclerosis complex (TSC), a multisystem genetic disorder manifesting with hamartomas throughout the body, including mainly the kidneys, brain, skin, eyes, heart, and lungs. Methods: We performed a systematic analysis of the available literature on BOI in TSC according to the PRISMA guidelines. All studies irrespective of participant age that reported on individual and societal measures of disease burden (e.g. health care resource use, costs, quality of life) were included. Results: We identified 33 studies reporting BOI in TSC patients. Most studies (21) reported health care resource use, while 14 studies reported quality of life and 10 studies mentioned costs associated with TSC. Only eight research papers reported caregiver BOI. Substantial BOI occurs from most manifestations of the disorder, particularly from pharmacoresistant epilepsy, neuropsychiatric, renal and skin manifestations. While less frequent, pulmonary complications also lead to a high individual BOI. The range for the mean annual direct costs varied widely between 424 and 98,008 International Dollar purchasing power parities (PPP-$). Brain surgery, end-stage renal disease with dialysis, and pulmonary complications all incur particularly high costs. There is a dearth of information regarding indirect costs in TSC. Mortality overall is increased compared to general population; and most TSC related deaths occur as a result of complications from seizures as well as renal complications. Long term studies report mortality between 4.8 and 8.3% for a follow-up of 8 to 17.4 years. Conclusions: TSC patients and their caregivers have a high burden of illness, and TSC patients incur high costs in health care systems. At the same time, the provision of inadequate treatment that does not adhere to published guidelines is common and centralized TSC care is received by no more than half of individuals who need it, especially adults. Further studies focusing on the cost effectiveness and BOI outcomes of coordinated TSC care as well as of new treatment options such as mTOR inhibitors are necessary.

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Hepatic manifestations of tuberous sclerosis complex: a genotypic and phenotypic analysis

Cited by 30 publications

References 24 publications

Alterations of the mTOR pathway in hepatic angiomyolipoma with emphasis on the epithelioid variant and loss of heterogeneity of TSC1/TSC2

Alterations of the mTOR pathway in hepatic angiomyolipoma with emphasis on the epithelioid variant and loss of heterogeneity of TSC1/TSC2

Phenotypic and genotypic characterization of Chinese children diagnosed with tuberous sclerosis complex

A systematic review on the burden of illness in individuals with tuberous sclerosis complex (TSC)

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