Franz D N
Department of Pediatrics, University of Cincinnati College of Medicine, OH, USA.
Semin Pediatr Neurol. 1998 Dec;5(4):253-68. doi: 10.1016/s1071-9091(98)80004-1.
Tuberous sclerosis complex (TSC) is an autosomal-dominant neurocutaneous disorder with a high spontaneous mutation rate. Understanding of this disorder has greatly increased in recent years. Two chromosomal loci can produce the TSC phenotype: 9q34 and 16p13. These appear to code for proteins that have a tumor suppressor function. TSC results in hamartomas that affect various organ systems, most commonly brain, skin, heart, and kidney. Previously thought to consist of intractable seizures, facial angiofibromas, and dementia, increasing numbers of persons with less severe involvement have been identified. Diagnostic criteria, various types of lesions, and medical management are reviewed.
结节性硬化症（TSC）是一种常染色体显性遗传的神经皮肤疾病，自发突变率很高。近年来，对这种疾病的了解有了很大的增加。两个染色体位点可产生TSC表型：9q34和16p13。这些位点似乎编码具有肿瘤抑制功能的蛋白质。TSC会导致错构瘤，影响各种器官系统，最常见的是脑、皮肤、心脏和肾脏。以前认为TSC仅表现为难治性癫痫、面部血管纤维瘤和痴呆，现在已发现越来越多受累程度较轻的患者。本文对其诊断标准、各种类型的病变及药物治疗进行了综述。
