Re: Hunter syndrome
請問您是認真的嗎?那我翻譯嘍(雖然有一堆專有名詞看不懂....)
※ 引述《toshi (胸上雪,任君搖)》之銘言:
: 剛剛唸書念到的,
: 又是一個從小就會退化的的疾病,
: 而且也會傷及認知功能。
: 不過這個跟獵人看多了沒有關係...........:P
Hunter syndrome
獵人症
Alternative names
又名為
Mucopolysaccharidosis II, Iduronate sulfatase deficiency
第二型黏多醣症;或稱為Iduronate sulfatase缺乏症
(PS:duronate sulfatase是某種分解酵素,我看不懂是什麼)
Definition
定義
Hunter syndrome is a hereditary disease in which the breakdown
獵人症是一種遺傳性疾病,特徵是無法正常代謝黏多醣
of a mucopolysaccharide (a chemical that is widely distributed
(黏多醣是一種廣泛分佈在細胞表面的化學物質)
in the body outside of cells) is defective. This chemical builds
黏多醣過多會呈現在臉部
(PS:臉部浮腫?看不懂到底在臉部有什麼特別現象)
up and causes a characteristic facial appearance, abnormal function
及多種器官運作不正常
of multiple organs, and in severe cases, early death.
在嚴重的病例中甚至會造成死亡
Causes, incidence, and risk factors
獵人症的成因、影響、危險性:
Hunter syndrome is inherited as an X-linked recessive disease.
獵人症是X染色體上的隱性性聯遺傳疾病。
This means that women carry the disease and can pass it on to
這代表女性可能攜帶此基因(但不發病ꄊtheir sons, but are not themselves afffected. Because females
而遺傳給她們的兒子(兒子會發病)
have two X chromosomes, their normal X can provide a functioning
因為女性擁有兩條X染色體,即使其中一條X染色體作用不正常,
gene even if their other X is defective -- but because males
另一條X染色體也能提供正常的作用(產生Iduronate sulfatase)
have an X and a Y, there is no normal gene to fix the problem
而男性僅有一條X染色體和一條Y染色體,所以當X染色體上的基因不正常時,
if the X is defective.
沒有其他的正常基因可以修補此一錯誤。
The metabolic abnormality that causes Hunter syndrome is a lack
引起獵人症這種不正常的代謝
of the enzyme iduronate sulfatase. In its absence,
是因為缺乏iduronate sulfatase這種酵素。
mucopolysaccharides collect in various body tissues, causing
缺乏這種酵素時,黏多醣會堆積在體內許多組之內,傷害人體。
damage.
※ 發信站: 批踢踢實業坊(ptt.csie.ntu.edu.tw)
◆ From: 61.228.151.161
※ 編輯: tsyr0406 來自: 61.228.151.161 (08/06 20:13)
※ 編輯: tsyr0406 來自: 61.228.151.161 (08/06 20:20)
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