Tuberous sclerosis complex
Summary
定义
病史和体格检查
关键诊断因素
- family history
- epilepsy
- cardiac rhabdomyoma (single or multiple)
- renal angiomyolipomas
- lymphangioleiomyomatosis of the lung
- cerebral subependymal calcified nodules
- multiple cortical tubers and/or radial migration lines
- giant cell astrocytoma
- facial angiofibromas
- cephalic plaque(s)
- non-traumatic ungual or periungual fibromas
- hypomelanotic macules
- shagreen patch(es) (connective tissue nevus)
- retinal nodular hamartoma(s)
- polycystic kidney disease
其他诊断因素
- numerous dental enamel pits and intraoral fibromas
- autism
- cognitive impairment
- behavioural problems
- multiple hamartomatous colonic polyps
危险因素
- genetic predisposition
诊断性检查
需考虑的检查
- genetic testing
- brain MRI
- neurodevelopmental assessment
- electroencephalogram (EEG)
- ECG
- echocardiography
- abdominal MRI
- glomerular filtration rate (GFR)
- blood pressure
- high-resolution chest CT
- pulmonary function tests and 6-minute walk test
- skeletal x-ray
- colonoscopy
- renal biopsy
治疗流程
renal cell carcinoma (suspected or confirmed)
intracranial aneurysm
neurological
skin lesions
renal
cardiovascular
pulmonary
cognitive and behavioural
撰稿人
作者
Francis J. DiMario Jr, MD, MA, FAAP
Professor of Pediatrics and Neurology
University of Connecticut School of Medicine
Associate Chair for Academic Affairs and Faculty Development
Department of Pediatrics
Academic Chief Emeritus
Division of Pediatric Neurology
Connecticut Children's Medical Center
Hartford
CT
利益声明
FJD is an author of a number of references cited in this topic.
同行评议者
Robert Robinson, MBBS, MA, MRCP, PhD
Consultant Paediatric Neurologist
Great Ormond Street Hospital
London
UK
利益声明
RR declares that he has no competing interests.
David Neal Franz, MD
Professor of Pediatrics and Neurology
Director
Tuberous Sclerosis Clinic
University of Cincinnati College of Medicine
Cincinnati Children's Hospital Medical Center
Cincinnati
OH
Declarações
DNF declares that he has no competing interests.
Créditos aos pareceristas
Os tópicos do BMJ Best Practice são constantemente atualizados, seguindo os desenvolvimentos das evidências e das diretrizes. Os pareceristas aqui listados revisaram o conteúdo pelo menos uma vez durante a história do tópico.
Declarações
As afiliações e declarações dos pareceristas referem--se ao momento da revisão.
Referências
Principais artigos
Northrup H, Aronow ME, Bebin EM, et al. Updated international tuberous sclerosis complex diagnostic criteria and surveillance and management recommendations. Pediatr Neurol. 2021 Oct;123:50-66.Texto completo Resumo
Caban C, Khan N, Hasbani DM, et al. Genetics of tuberous sclerosis complex: implications for clinical practice. Appl Clin Genet. 2016 Dec 21;10:1-8.Texto completo Resumo
Amin S, Kingswood JC, Bolton PF, et al. The UK guidelines for management and surveillance of tuberous sclerosis complex. QJM. 2019 Mar 1;112(3):171-82.Texto completo Resumo
de Vries PJ, Whittemore VH, Leclezio L, et al. Tuberous sclerosis associated neuropsychiatric disorders (TAND) and the TAND Checklist. Pediatr Neurol. 2015 Jan;52(1):25-35.Texto completo Resumo
Li M, Zhou Y, Chen C, et al. Efficacy and safety of mTOR inhibitors (rapamycin and its analogues) for tuberous sclerosis complex: a meta-analysis. Orphanet J Rare Dis. 2019 Feb 13;14(1):39.Texto completo Resumo
Artigos de referência
Uma lista completa das fontes referenciadas neste tópico está disponível para os usuários com acesso total ao BMJ Best Practice.
Diagnósticos diferenciais
- Periventricular nodular heterotopia (PNH)
- Multiple endocrine neoplasia (MEN-1)
- Birt-Hogg-Dubé syndrome
Mais Diagnósticos diferenciaisDiretrizes
- Updated international tuberous sclerosis complex diagnostic criteria and surveillance and management recommendations
- Updated international tuberous sclerosis complex diagnostic criteria and surveillance and management recommendations
Mais Diretrizes
Conectar-se ou assinar para acessar todo o BMJ Best Practice
O uso deste conteúdo está sujeito ao nosso aviso legal