更新時間:2024-03-27 07:11作者:小編
?是一種罕見的遺傳性疾病,主要影響血紅蛋白的合成過程。它是由于身體缺乏特定酶的功能而導(dǎo)致血紅蛋白分解產(chǎn)物在體內(nèi)積累,從而引發(fā)一系列癥狀。這些癥狀包括皮膚敏感、神經(jīng)異常和消化問題。
Porphyria is a rare genetic disorder that primarily affects the process of hemoglobin synthesis. It is caused by a deficiency in specific enzymes, leading to the accumulation of heme breakdown products in the body and resulting in a range of symptoms. These symptoms include skin sensitivity, neurological abnormalities, and digestive issues.
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Porphyria通常用來指代上述遺傳性疾病,也可以用來指代任何與血紅蛋白合成有關(guān)的異常情況。
Porphyria is commonly used to refer to the aforementioned genetic disorder, but can also be used to describe any abnormality related to hemoglobin synthesis.
1. She was diagnosed with porphyria at a young age and has been managing her symptoms through medication.
她在年輕時被診斷出患有porphyria,并通過藥物治療來自己的癥狀。
2. Porphyria can be inherited from one or both parents, depending on the specific type.
porphyria可以通過父母中的一個或兩個人遺傳,具體取決于類型。
3. The patient's porphyria flared up after exposure to sunlight, causing severe skin blistering.
患者暴露在陽光下后,porphyria加劇,導(dǎo)致嚴重的皮膚水泡。
4. Treatment for porphyria often involves avoiding triggers and managing symptoms with medication.
治療porphyria通常包括避免誘因,并通過藥物來癥狀。
5. The doctor explained that porphyria is a result of an enzyme deficiency and can be managed through proper treatment and lifestyle changes.
醫(yī)生解釋說,porphyria是由于酶缺乏導(dǎo)致的,并且可以通過適當?shù)闹委熀蜕罘绞礁淖儊怼?/p>
- Acute intermittent porphyria: 急性間歇性porphyria,一種最常見的類型。
- Erythropoietic proorphyria: 紅細胞生成前卟啉病,一種罕見的類型。
- Porphyrin: 卟啉,指血紅素分解產(chǎn)物。
- Heme: 血紅素,一種含鐵血紅蛋白。
- Enzyme deficiency: 酶缺乏,指身體缺乏特定酶的功能。
- Hemoglobin synthesis: 血紅蛋白合成,指身體產(chǎn)生血紅蛋白的過程。
Porphyria是一種罕見的遺傳性疾病,主要影響血紅蛋白的合成過程。它是由于身體缺乏特定酶的功能而導(dǎo)致血紅蛋白分解產(chǎn)物在體內(nèi)積累,從而引發(fā)一系列癥狀。這些癥狀包括皮膚敏感、神經(jīng)異常和消化問題。治療porphyria通常包括避免誘因,并通過藥物來癥狀。雖然這是一種罕見的疾病,但通過正確的治療和生活方式改變,患者可以有效地管理其癥狀并提高生活質(zhì)量。