Tuberous sclerosis

被引：993

作者：

Curatolo, Paolo ^{[1
]}

Bombardieri, Roberta ^{[1
]}

Jozwiak, Sergiusz ^{[2
]}

机构：

[1] Univ Roma Tor Vergata, Pediat Neurol Unit, Dept Neurosci, I-00133 Rome, Italy

[2] Childrens Mem Hlth Inst, Dept Neurol & Epileptol, Warsaw, Poland

来源：

LANCET | 2008年 / 372卷 / 9639期

关键词：

D O I：

10.1016/S0140-6736(08)61279-9

中图分类号：

R5 [内科学];

学科分类号：

1002 [临床医学]; 100201 [内科学];

摘要：

Tuberous sclerosis is a genetic multisystern disorder characterised by widespread hamartomas in several organs, including the brain, heart, skin, eyes, kidney, lung, and liver. The affected genes are TSC1 and TSC2, encoding hamartin and tuberin respectively. The hamartin-tuberin complex inhibits the mammalian-target-of-rapamycin pathway, which controls cell growth and proliferation. Variations in the distribution, number, size, and location of lesions cause the clinical syndrome to vary, even between relatives. Most features of tuberous sclerosis become evident only in childhood after 3 years of age, limiting their usefulness for early diagnosis. Identification of patients at risk for severe manifestations is crucial. Increasing understanding of the molecular abnormalities caused by tuberous sclerosis may enable improved management of this disease.

引用

页码：657 / 668

页数：12

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