CAJ | 학술논문

目的：通过对结节性硬化症（TS）的病例分析及文献复习加深对 TS 的认识，以提高临床诊断水平。方法对三例临床诊断为 TS 的临床资料进行系统分析并复习文献。结果三例患者都有典型的皮肤改变，包括色素脱失斑、面部血管纤维瘤、指（趾）甲纤维瘤和鲨鱼皮斑。同时又有不同程度的全身多脏器受累，包括智能减退、癫痫、脑室管膜瘤，心肌纤维瘤和肾脏错构瘤。其中癫痫发作的年龄越早，患者的智能减退越严重。结论 TS 是一种较为罕见的常染色体显性遗传病，临床表现累及神经系统、皮肤、眼部及内脏等多个器官。随着对 TS 临床特征和病理生理机制全面、系统的认识，以及新药物的研发，其预后也将得到根本的改善。
목적：통과대결절성경화증（TS）적병례분석급문헌복습가심대 TS 적인식，이제고림상진단수평。방법대삼례림상진단위 TS 적림상자료진행계통분석병복습문헌。결과삼례환자도유전형적피부개변，포괄색소탈실반、면부혈관섬유류、지（지）갑섬유류화사어피반。동시우유불동정도적전신다장기수루，포괄지능감퇴、전간、뇌실관막류，심기섬유류화신장착구류。기중전간발작적년령월조，환자적지능감퇴월엄중。결론 TS 시일충교위한견적상염색체현성유전병，림상표현루급신경계통、피부、안부급내장등다개기관。수착대 TS 림상특정화병리생리궤제전면、계통적인식，이급신약물적연발，기예후야장득도근본적개선。
Objective To improve understanding of tuberous sclerosis(TS),and its diagnosis and treatment,by summary of case reports and literature review. Methods Summary of clinical manifestations and neuroimaging,treatment and outcome of three cases of TS,and literature review were performed. Results All three cases had typical skin lesions,including hypomelanotic,facial angiofibroma,ungual fibroma. And multiple systems are involved,including intelligence impairment,epilepsy,subependymal nodules,cardiac rhabdomyoma,kidney hamartoma. The younger age of onset of seizure,the more sever intelligence impairment patient develops. Conclusion TS is a rare autosomal dominant heredi-tary disease. The manifestation involve multiple organs,including central nervous system,skin,eye and internal visceral. The better understand-ing of TS in clinical,pathological and physiological process will lead the advancement of pharmacological development and better outcome of the patients.