| アブストラクト | BACKGROUND: Tuberous Sclerosis Complex (TSC) is a multi-system genetic disorder characterised by the development of benign growths and diverse clinical manifestations, varying in severity, age at onset and with high clinical burden. AIMS: This longitudinal study aims to describe the broad spectrum of clinical manifestation profiles in a large, representative cohort of TSC patients in the UK in order to better understand disease complexity. METHODS: TSC patients in the Clinical Practice Research Datalink (CPRD) and linked Hospital Episodes Statistics (CPRD-HES) were retrospectively identified between 1987 and 2013. Available history was extracted for each patient and clinical diagnosis, procedure and medication records reviewed. A random selection of patients from the CPRD-HES was used as a Comparator cohort. RESULTS: Three hundred and thirty-four TSC patients with a mean (SD) age of 30.3 (18.6) years were identified (53% female). TSC was diagnosed at mean age 3.2 (4.2) years. Epilepsy and psychiatric manifestations were reported frequently in paediatric (77% and 55%, respectively) and adult patients (66% and 68%, respectively). The prevalence of manifestations in the TSC cohort was markedly higher versus the Comparator cohort. The majority of paediatric (46%) and adult TSC patients (62%) developed clinical manifestations affecting at least three organ systems and forty-nine distinctive organ system manifestation profiles were identified. CONCLUSIONS: TSC patients present with multiple and complex clinical manifestations and profiles that necessitate the co-ordinated action of a multidisciplinary team in order to improve the quality and efficiency of care. |
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| ジャーナル名 | European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society |
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| 投稿日 | 2015/12/27 |
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| 投稿者 | Kingswood, Christopher; Bolton, Patrick; Crawford, Pamela; Harland, Christopher; Johnson, Simon R; Sampson, Julian R; Shepherd, Charles; Spink, Jayne; Demuth, Dirk; Lucchese, Lara; Nasuti, Paola; Gray, Elizabeth; Pinnegar, Alun; Magestro, Matthew |
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| 組織名 | The Royal Sussex County Hospital, Brighton, UK. Electronic address:;chriskingswood@me.com.;Institute of Psychiatry, Kings College London, London, UK.;York Hospital, York, UK.;Epsom and St Helier University Hospitals NHS Trust, UK.;Queen's Medical Centre, Nottingham, UK.;Institute of Medical Genetics, Cardiff University School of Medicine, Cardiff,;UK.;Nobles Hospital, Isle of Man, UK.;Tuberous Sclerosis Association, London, UK.;IMS Health, London, UK.;Novartis Pharmaceuticals, UK Ltd, Frimley, UK.;Novartis Pharmaceuticals Corporation, East Hanover NJ, USA. |
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| Pubmed リンク | https://www.ncbi.nlm.nih.gov/pubmed/26706603/ |
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