Acute hepatic porphyrias: Recommendations for evaluation and long-term management.
Acute hepatic porphyrias: Recommendations for evaluation and long-term management.
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DOI：
10.1002/hep.29313
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发表时间：
2017-10
期刊：
影响因子：
--
通讯作者：
Porphyrias Consortium of the Rare Diseases Clinical Research Network
中科院分区：
文献类型：
--
作者：
Balwani M;Wang B;Anderson KE;Bloomer JR;Bissell DM;Bonkovsky HL;Phillips JD;Desnick RJ;Porphyrias Consortium of the Rare Diseases Clinical Research Network
急性肝卟啉症 (AHP) 是一组四种遗传性疾病，每种疾病均由血红素生物合成途径中特定酶的活性缺陷引起。他们在临床上表现为急性神经内脏症状，这些症状可能是散发性的或反复发作的，严重时可能危及生命。由于临床特征类似于其他更常见的医疗状况，因此经常会漏诊或延迟诊断。有四个主要亚组：有散发或反复急性发作的有症状患者、无症状高卟啉前体排泄者和无症状或无卟啉前体升高的无症状潜伏患者。鉴于其临床异质性以及在不理想的管理下可能出现显着发病率，需要用于初始评估、随访和长期管理的综合临床指南，特别是因为没有监测疾病进展或治疗反应的指南。美国国立卫生研究院罕见病临床研究网络的卟啉症联盟由这些疾病临床管理的专家中心组成，制定了这些建议。这些建议基于文献、正在进行的自然史研究和广泛的临床经验。初步评估应包括通过生化检测进行诊断确认、随后进行基因检测以确定具体的 AHP，以及完整的病史和体格检查。应建议新诊断的患者避免已知的诱发因素。随访频率取决于临床亚组，密切监测可能需要调整治疗的复发性发作患者以及有临床并发症的患者。综合护理应包括需要时的亚专科转诊。年度评估包括生化测试和长期并发症监测。这些指南提供了监测 AHP 患者的框架，以确保获得最佳结果。
The acute hepatic porphyrias (AHPs) are a group of four inherited disorders, each resulting from the deficient activity of a specific enzyme in the heme biosynthetic pathway. They present clinically with acute neurovisceral symptoms which may be sporadic or recurrent, and which, when severe, can be life-threatening. The diagnosis is often missed or delayed as the clinical features resemble other more common medical conditions. There are four major subgroups: symptomatic patients with sporadic or recurrent acute attacks, asymptomatic high porphyrin precursor excretors, and asymptomatic latent patients without symptoms or porphyrin precursor elevations. Given their clinical heterogeneity and potential for significant morbidity with suboptimal management, comprehensive clinical guidelines for initial evaluation, follow-up and long-term management are needed, particularly since no guidelines exist for monitoring disease progression or response to treatment. The Porphyrias Consortium of the NIH’s Rare Diseases Clinical Research Network, which consists of expert centers in the clinical management of these disorders, has formulated these recommendations. These recommendations are based on the literature, ongoing natural history studies, and extensive clinical experience. Initial assessments should include diagnostic confirmation by biochemical testing, subsequent genetic testing to determine the specific AHP, and a complete medical history and physical examination. Newly diagnosed patients should be counseled about avoiding known precipitating factors. The frequency of follow up depends on the clinical subgroup, with close monitoring of patients with recurrent attacks who may require treatment modifications as well as those with clinical complications. Comprehensive care should include subspecialist referrals when needed. Annual assessments include biochemical testing and monitoring for long term complications. These guidelines provide a framework for monitoring patients with AHPs to ensure optimal outcomes.
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影响因子：
3.9
作者：
Chen B;Solis-Villa C;Hakenberg J;Qiao W;Srinivasan RR;Yasuda M;Balwani M;Doheny D;Peter I;Chen R;Desnick RJ
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影响因子：
4.2
作者：
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通讯作者：
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影响因子：
--
作者：
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通讯作者：
KAPPAS, A
影响因子：
158.5
作者：
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通讯作者：
Gonzalez, Ernesto
影响因子：
5.8
作者：
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通讯作者：
Van Gaal, LF