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01.06.2019 | Review

Tuberous sclerosis complex: new insights into clinical and therapeutic approach

verfasst von: Angela Volpi, Gabriele Sala, Elena Lesma, Francesca Labriola, Marco Righetti, Rosa Maria Alfano, Mario Cozzolino

Erschienen in: Journal of Nephrology | Ausgabe 3/2019

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Abstract

Tuberous sclerosis complex (TSC) is a complex disease with many different clinical manifestations. Despite the common opinion that TSC is a rare condition, with a mean incidence of 1/6000 live births and a prevalence of 1/20,000, it is increasingly evident that in reality this is not true. Its clinical sequelae span a range of multiple organ systems, in particular the central nervous system, kidneys, skin and lungs. The management of TSC patients is heavily burdensome in terms of time and healthcare costs both for the families and for the healthcare system. Management options include conservative approaches, surgery, pharmacotherapy with mammalian target of rapamycin inhibitors and recently proposed options such as therapy with anti-EGFR antibody and ultrasound-guided percutaneous microwaves. So far, however, no systematically accepted strategy has been found that is both clinically and economically efficient. Thus, decisions are tailored to patients’ characteristics, resource availability and clinical and technical expertise of each single center. This paper reviews the pathophysiology and the clinical (diagnostic-therapeutic) management of TSC.

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Titel: Tuberous sclerosis complex: new insights into clinical and therapeutic approach
verfasst von: Angela Volpi
Gabriele Sala
Elena Lesma
Francesca Labriola
Marco Righetti
Rosa Maria Alfano
Mario Cozzolino
Publikationsdatum: 01.06.2019
Verlag: Springer International Publishing
Erschienen in: Journal of Nephrology / Ausgabe 3/2019
Print ISSN: 1121-8428
Elektronische ISSN: 1724-6059
DOI: https://doi.org/10.1007/s40620-018-0547-6

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