Update on the Porphyrias.

IF 15.1 1区 医学 Q1 MEDICINE, RESEARCH & EXPERIMENTAL Annual review of medicine Pub Date : 2024-01-29 Epub Date: 2023-08-04 DOI:10.1146/annurev-med-042921-123602
Amy K Dickey, Rebecca Karp Leaf, Manisha Balwani
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Abstract

The porphyrias are a group of rare diseases, each resulting from a defect in a different enzymatic step of the heme biosynthetic pathway. They can be broadly divided into two categories, hepatic and erythropoietic porphyrias, depending on the primary site of accumulation of heme intermediates. These disorders are multisystemic with variable symptoms that can be encountered by physicians in any specialty. Here, we review the porphyrias and describe their clinical presentation, diagnosis, and management. We discuss novel therapies that are approved or in development. Early diagnosis is key for the appropriate management and prevention of long-term complications in these rare disorders.

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卟啉症的最新进展
卟啉症是一组罕见疾病,每种疾病都是由血红素生物合成途径中不同酶步骤的缺陷引起的。根据血红素中间产物积聚的主要部位,可大致分为肝卟啉症和红细胞生成性卟啉症两类。这些疾病具有多系统性,症状各异,任何专业的医生都可能遇到。在此,我们将回顾卟啉症,并描述其临床表现、诊断和治疗。我们还讨论了已获批准或正在开发中的新型疗法。早期诊断是对这些罕见疾病进行适当治疗和预防长期并发症的关键。
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来源期刊
Annual review of medicine
Annual review of medicine 医学-医学:内科
CiteScore
24.90
自引率
0.00%
发文量
58
期刊介绍: The Annual Review of Medicine, which has been published since 1950, focuses on important advancements in diverse areas of medicine. These include AIDS/HIV, cardiology, clinical pharmacology, dermatology, endocrinology/metabolism, gastroenterology, genetics, immunology, infectious disease, neurology, oncology/hematology, pediatrics, psychiatry, pulmonology, reproductive medicine, and surgery. The journal's current volume has transitioned from a gated access model to an open access model through the Annual Reviews' Subscribe to Open program. All articles published in the journal are now available under a CC BY license.
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