Tuberous sclerosis

被引：0

作者：

Garcia, Tatiana Paula Pire ^{[1
]}

Perez, Sabela Castaneda ^{[1
]}

Ordieres-Ortega, Lucia ^{[1
,2
,3
]}

机构：

[1] Hosp Gen Univ Gregorio Maranon, Med Interna Serv, Madrid, Spain

[2] Univ Complutense Madrid, Fac Med, Madrid, Spain

[3] Inst Invest Sanitaria Gregorio Maranon, Madrid, Spain

来源：

GALICIA CLINICA | 2023年 / 84卷 / 03期

关键词：

Tuberous sclerosis; TAND; SEGA; hamartomas; angiofi-bromas;

D O I：

10.22546/70/4081

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Tuberous sclerosis is a rare genetic syndrome characterized by the pathogenic mutation of the TSC1 or TSC genes, thus inducing an uncontrolled overactivation of the mTOR pathway and subsequent hamartoma formation. Clinical manifestations include neurological, dermatological, dental, cardiac, renal, ophthalmologic and pulmonary, although it can affect other systems. A timely diagnosis is essential to promptly institute proper management measures and treat complications, thus improving the patient's prognosis. In this manuscript, authors review the main clinical manifestations, current diagnostic criteria and present-day recommendations on diagnosis and follow-up in these patients.

引用

页数：43