tuberous sclerosis是什麼意思，tuberous sclerosis的意思翻譯、用法、同義詞、例句

常用詞典

結節狀硬化（症）；結節性腦硬化

例句

No tuberous sclerosis was ascertained.

結節性硬化症是沒有确定。

What if the tuberous sclerosis is guilty?

如果結節性腦硬化的确是兇手?。

There is no cure for tuberous sclerosis complex (TSC).

結節性硬化症尚無法治愈。

Purpose To research the MRI and CT findings of Tuberous Sclerosis.

目的探讨結節性硬化症的顱内影像學征象。

Objective: To discuss the appearance of tuberous sclerosis(TS) on CT.

目的：探讨兒童腦結節性硬化的CT表現。

網絡擴展資料

結節性硬化症（Tuberous Sclerosis，TS）是一種罕見的遺傳性疾病，屬于神經皮膚綜合征的一種，主要表現為多器官錯構瘤和發育異常。以下為詳細解釋：

1.定義與别名

英文名：Tuberous Sclerosis Complex（TSC），簡稱TSC。
别名：Bourneville病、結節性腦硬化。
核心特征：由外胚層、中胚層及内胚層器官發育異常引起，累及皮膚、神經系統、腎髒、心髒等。

2.病因與遺傳

遺傳方式：常染色體顯性遺傳，但約2/3患者為自發基因突變。
緻病基因：TSC1（9q34）和TSC2（16p13.3）基因突變，分别編碼hamartin和tuberin蛋白，兩者共同調控細胞生長與增殖。

3.臨床表現

三聯征（典型但非所有患者均出現）：
- 面部皮脂腺瘤：鼻唇溝周圍紅色或黃紅色丘疹，對稱分布。
- 癫痫：約90%患者出現，嬰兒期可能表現為嬰兒痙攣症。
- 智力障礙：程度不一，部分患者僅輕度認知受損。
其他症狀：
- 皮膚表現：鲛魚皮斑（腰背部）、甲周纖維瘤、色素脫失斑。
- 器官受累：腎髒血管肌脂瘤、心髒橫紋肌瘤、肺淋巴管肌瘤病等。

4.診斷與治療

診斷：結合臨床特征、影像學（如腦部MRI顯示皮層結節）及基因檢測。
治療：
- 對症治療：抗癫痫藥物控制發作，手術切除腫瘤（如腎血管肌脂瘤）。
- 靶向藥物：mTOR抑制劑（如依維莫司）用于抑制腫瘤生長。

5.流行病學

發病率約為1/6000至1/10,000，男女比例約2:1。

注：發音為/tjuːˈbɜːrəs sklɪˈroʊsɪs/（英語）。如需更完整信息，可參考醫學文獻或權威機構指南。

網絡擴展資料二

Tuberous sclerosis is a rare genetic disorder that causes benign tumors to grow on the brain, heart, kidneys, and other organs. Here is a detailed explanation of the term.

Definition

Tuberous sclerosis, also known as tuberous sclerosis complex or Bourneville's disease, is a genetic disorder that causes noncancerous (benign) tumors to grow in many parts of the body. The tumors can occur in the brain, kidneys, heart, lungs, eyes, and skin. Tuberous sclerosis affects about one in every 6,000 people worldwide.

Example sentences

She was diagnosed with tuberous sclerosis after experiencing seizures.
Tuberous sclerosis can cause developmental delays in children.
The doctor recommended regular scans to monitor the growth of the tumors in her kidneys.

Usage

Tuberous sclerosis is a medical condition that requires careful management and monitoring. Treatment options may include surgery, medication, or a combination of both. The severity of the symptoms can vary widely, so it's important for patients to receive personalized care from a team of healthcare professionals.

Synonyms

Tuberous sclerosis is also known as tuberous sclerosis complex, Bourneville's disease, or epiloia.

Antonyms

As tuberous sclerosis is a medical condition, it does not have an antonym.

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