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首页 > 医学词汇大全 > Porphyria
Porphyria

内分泌

关键词内分泌 疾病 天然化学物质堆积

词汇介绍

拓展阅读

解析

Porphyria   英 /pɔːˈfɪriə/   美 /pɔːrˈfɪriə/

释    义   n. [医] 卟啉症;[医] 紫质症

例    句   The only known hemoglobinopathy of animals is porphyria. 动物中唯一已知的血红蛋白病是卟啉症。

概述

卟啉症是指由天然化学物质堆积而导致的一组疾病,这些化学物质会在体内产生卟啉。卟啉对于血红蛋白的功能至关重要,血红蛋白是红细胞中的一种蛋白,它与卟啉连接,结合铁并将氧输送到器官和组织,高含量的卟啉会引起严重的问题。卟啉症分为两大类:急性主要影响神经系统,而皮肤型主要影响皮肤。某些类型的卟啉症同时具有神经系统症状和皮肤症状。卟啉症通常是遗传的,尽管卟啉症无法治愈,但某些生活方式的改变以避免触发症状可能会帮助进行治疗。症状的治疗取决于卟啉症类型。病理机制在人类中,卟啉是血红素的主要前体,血红素是血

Systemic messenger RNA as an etiological treatment for acute intermittent porphyria复制标题

系统性信使RNA作为急性间歇性卟啉病的病因学治疗

发表时间:2018-12-24

影响因子:30.6

作者: Pedro Berraondo 

期刊:Nat Med

The dominant clinical feature of AIP is acute neurovisceral attacks associated with high production of potentially neurotoxic porphyrin precursors. Symptoms of AIP are heterogeneous and include severe fatigue, abdominal pain, loss of appetite, nausea, vomiting and constipation. Patients may also have trouble sleeping, anxiety, depression, confused states, hypertension and tachycardia. Severe neurological complications also occur, and death may result from respiratory and bulbar paralysis . Current treatments include infusions of hemin (panhematin in the United States and normosang in the European Union, Recordati) and carbohydrate loading. Hemin replacement therapy, which restores the regulatory heme pool in the liver and suppresses ALAS1 induction, is more effective than glucose therapy, which antagonizes hepatic ALAS1 induction , in reducing ALA and PBG accumulation5,8 . Reductions in the levels of ALA and PBG occur 3d after intravenous (i.v.) hemin infusion (3–4mg kg−1day−1 ), and pain and nausea typically resolve on day four . Hemin treatment should therefore be started as soon as the diagnosis is established and monitored through assessments of urinary ALA and/or PBG levels, pain scoring and clinical improvement10. Approximately 5% of patients suffer recurrent attacks, which persist for many years. Recurrent attacks have a marked impact on the quality of life of these patients. Patients usually require hospitalization and strong analgesic treatment, and opiates are often necessary for pain control. Prophylactic hemin is increasingly used for treating chronic symptoms, as an off-label indication of the drug. Of note, repeated courses of this therapy have been shown to generate thromboembolic disease and increased serum ferritin levels, suggesting iron overload in the liver15. Thus, lifelong exposure to hemin replacement therapy for the control of AIP symptoms may cause adverse events.

译文

AIP的主要临床特征是与潜在产生神经毒性的卟啉前体大量产生相关的急性神经内脏发作。 AIP的症状多种多样,包括严重的疲劳,腹痛,食欲不振,恶心,呕吐和便秘。患者也可能有睡眠困难,焦虑,抑郁,精神错乱,高血压和心动过速。还会发生严重的神经系统并发症,并且可能因呼吸系统和延髓麻痹而导致死亡。目前的治疗方法包括输注血红素(美国的Panhematin和欧盟的Recordsati的normosang)以及补充碳水化合物。血红素替代疗法可恢复肝脏中的调节血红素库并抑制ALAS1诱导,比葡萄糖疗法可拮抗肝ALAS1诱导,在减少ALA和PBG积累方面更有效5,8。静脉(i.v.)血红素输注(3–4mg kg-1·day-1)后3天,ALA和PBG的水平会降低,疼痛和恶心通常会在第四天消退。因此,一旦确定诊断并通过评估尿液ALA和/或PBG水平,疼痛评分和临床改善,就应开始进行血红素治疗。大约5%的患者反复发作,持续多年。反复发作对这些患者的生活质量有显着影响。患者通常需要住院和强有力的镇痛治疗,而鸦片制剂通常是控制疼痛所必需的。预防性血红素越来越多地用于治疗慢性症状,作为药物的标签外适应症。值得注意的是,该疗法的重复疗程已显示会产生血栓栓塞性疾病并增加血清铁蛋白水平,提示肝脏铁超负荷15。因此,终生接触用于控制AIP症状的血红素替代疗法可能会引起不良事件。