更新时间：2024-03-27 07:11作者：小编
是一种罕见的遗传性疾病，主要影响血红蛋白的合成过程。它是由于身体缺乏特定酶的功能而导致血红蛋白分解产物在体内积累，从而引发一系列症状。这些症状包括皮肤敏感、神经异常和消化问题。
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.
porphyria [pɔːˈfɪərɪə]
Porphyria通常用来指代上述遗传性疾病，也可以用来指代任何与血红蛋白合成有关的异常情况。
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.
她在年轻时被诊断出患有porphyria，并通过药物治疗来自己的症状。
2. Porphyria can be inherited from one or both parents, depending on the specific type.
porphyria可以通过父母中的一个或两个人遗传，具体取决于类型。
3. The patient's porphyria flared up after exposure to sunlight, causing severe skin blistering.
患者暴露在阳光下后，porphyria加剧，导致严重的皮肤水泡。
4. Treatment for porphyria often involves avoiding triggers and managing symptoms with medication.
治疗porphyria通常包括避免诱因，并通过药物来症状。
5. The doctor explained that porphyria is a result of an enzyme deficiency and can be managed through proper treatment and lifestyle changes.
医生解释说，porphyria是由于酶缺乏导致的，并且可以通过适当的治疗和生活方式改变来。
- Acute intermittent porphyria: 急性间歇性porphyria，一种最常见的类型。
- Erythropoietic proorphyria: 红细胞生成前卟啉病，一种罕见的类型。
- Porphyrin: 卟啉，指血红素分解产物。
- Heme: 血红素，一种含铁血红蛋白。
- Enzyme deficiency: 酶缺乏，指身体缺乏特定酶的功能。
- Hemoglobin synthesis: 血红蛋白合成，指身体产生血红蛋白的过程。
Porphyria是一种罕见的遗传性疾病，主要影响血红蛋白的合成过程。它是由于身体缺乏特定酶的功能而导致血红蛋白分解产物在体内积累，从而引发一系列症状。这些症状包括皮肤敏感、神经异常和消化问题。治疗porphyria通常包括避免诱因，并通过药物来症状。虽然这是一种罕见的疾病，但通过正确的治疗和生活方式改变，患者可以有效地管理其症状并提高生活质量。