Verhoef S, Lindhout D, Halley D J, van den Ouweland A M
Nederlands Kanker Instituut/Antoni van Leeuwenhoek Ziekenhuis, polikliniek Familiaire Tumoren, Amsterdam.
Ned Tijdschr Geneeskd. 2001 Oct 6;145(40):1928-30.
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterised by the presence of multiple hamartomas in different parts of the body: the skin, central nervous system, retina, heart, and kidneys. The diagnosis is based on clinical criteria. Screening for TSC must include investigation of skin, CT-scan of the brain and retinal examination. Mutations in TSC patients are present in either the TSC1 or the TSC2 gene. Due to the complexity of the genes and the observation that almost each family has a unique mutation, DNA analysis is not suitable for fast diagnosis of the index patient, but may be used for testing relatives at risk.
结节性硬化症（TSC）是一种常染色体显性疾病，其特征是在身体不同部位出现多个错构瘤，包括皮肤、中枢神经系统、视网膜、心脏和肾脏。诊断基于临床标准。TSC的筛查必须包括皮肤检查、脑部CT扫描和视网膜检查。TSC患者的突变存在于TSC1基因或TSC2基因中。由于基因的复杂性以及几乎每个家族都有独特突变这一观察结果，DNA分析不适用于对索引患者进行快速诊断，但可用于对有风险的亲属进行检测。
