Tuberous sclerosis complex: a review.
Tuberous sclerosis complex: a review.
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DOI：
10.1016/j.pedhc.2006.05.004
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发表时间：
2007-03-01
期刊：
影响因子：
--
通讯作者：
Robson, W Lane M
中科院分区：
文献类型：
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作者：
Leung, Alexander K C;Robson, W Lane M
结节性硬化症 (TSC) 是一种遗传性神经皮肤疾病，其特征是几乎每个器官都可能形成错构瘤。该遗传为常染色体显性遗传，外显率几乎完全，但表达性可变。编码 TSC 的两个基因位点是位于染色体 9q34 上的 TSC1 和位于 16p13.3 上的 TSC2。 TSC 复合物可能影响皮肤、中枢神经系统、肾脏、心脏、眼睛、血管、肺、骨骼和胃肠道。 TSC 的诊断基于多个器官系统中错构瘤的识别。治疗应针对症状和器官特异性。多学科管理方法是必要的。
Tuberous sclerosis complex (TSC) is an inherited neurocutaneous disorder characterized by the potential for hamartoma formation in almost every organ. The inheritance is autosomal dominant with almost complete penetrance but variable expressivity. The two gene loci that code for TSC are TSC1, located on chromosome 9q34, and TSC2 on 16p13.3. TSC complex may affect the skin, central nervous system, kidneys, heart, eyes, blood vessels, lungs, bone, and gastrointestinal tract. The diagnosis of TSC is based on the identification of hamartomas in more than one organ system. Treatment should be symptomatic and organ specific. A multidisciplinary management approach is necessary.