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多器官损害的结节性硬化症1例并文献复习

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结节性硬化症(TSC)是一种常染色体显性遗传性疾病,是由TSC1、TSC2基因变异所致的罕见遗传病。目前临床可查询到的病例多为受累1~2处器官损害,多器官受累的病例较为罕见。目前山东大学齐鲁医院德州医院消化内科发现1例多系统受累的TSC,以腹腔积液为首发症状,同时合并心、肺、肾功能不全。现对本病例进行整理报道并文献复习,加强临床认识,为本病的诊治提供依据,避免误诊误治。
A case of tuberous sclerosis complex with multiple organ damage and literature review
Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disease,which is a rare genetic disease caused by the mutation of TSC1 and TSC2 genes. At present,most of the cases that can be searched in clinic are involved in 1-2 organ damage,and cases involving multiple organs are rare. At present,a case of TSC with multiple system involvement is found in Department of Gastroenterology,Dezhou Hospital of Qilu Hospital of Shandong University,with ascites as the first symptom and complicated by heart,lung and renal insufficiency. This case is reported and the literature is reviewed,so as to strengthen clinical understanding,provide basis for the diagnosis and treatment of this disease,and avoid misdiagnosis and mistreatment.

Tuberous sclerosis complexMultiple organ damageImaging manifestationsLiterature review

魏菁琳、李忠浩、翟真真、刘连培

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山东大学齐鲁医院德州医院消化内科,山东德州 253000

山东大学齐鲁医院德州医院骨科,山东德州 253000

结节性硬化症 多器官损害 影像学表现 文献复习

2024

中国医药科学
海峡两岸医药卫生交流协会 二十一世纪联合创新(北京)医药科学研究院

中国医药科学

影响因子:1.083
ISSN:2095-0616
年,卷(期):2024.14(20)