How I treat erythropoietic protoporphyria and X-linked protoporphyria.
How I treat erythropoietic protoporphyria and X-linked protoporphyria.
复制标题
我如何治疗红细胞原质畸形和X连锁原质畸形。
DOI：
10.1182/blood.2022018688
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发表时间：
2023-06-15
期刊：
影响因子：
20.3
通讯作者：
Dickey, Amy K.
中科院分区：
文献类型：
--
作者：
Leaf, Rebecca Karp;Dickey, Amy K.
红细胞生成性原卟啉症（EPP）是一种遗传性皮肤卟啉症，由亚铁螯合酶（催化血红素生物合成的最后一步的酶）表达减少引起。由此产生的原卟啉IX的积累导致严重的，痛苦的皮肤光敏性，以及在一小部分患者中可能危及生命的肝脏疾病。X-连锁原卟啉症（XLP）在临床上与EPP相似，但由骨髓中血红素生物合成的第一步δ-氨基乙酰丙酸合成酶2的活性增加引起，并且也引起原卟啉蓄积。虽然历史上EPP和XLP（统称为原卟啉症）的管理集中在避免阳光照射，但最近已批准或正在开发新的治疗方法，这将改变这些疾病的治疗前景。我们提出了3例患者的情况下，强调与原卟啉症患者的关键治疗考虑，包括（1）光敏性的方法，（2）管理铁缺乏症的原卟啉症，（3）了解肝衰竭的原卟啉症。红细胞生成性原卟啉症和其他原卟啉症的病理生理学是基于血红素合成紊乱、卟啉转运及其对皮肤和肝脏的影响。Leaf和Dickey提供了一个关于如何治疗这些罕见遗传性疾病患者的全面指南，并更新了新疗法的最新发展。
Erythropoietic protoporphyria (EPP) is an inherited cutaneous porphyria caused by reduced expression of ferrochelatase, the enzyme that catalyzes the final step in heme biosynthesis. The resultant accumulation of protoporphyrin IX leads to severe, painful cutaneous photosensitivity, as well as potentially life-threatening liver disease in a small percentage of patients. X-linked protoporphyria (XLP) is clinically similar to EPP but results from increased activity of δ-aminolevulinic acid synthase 2, the first step in heme biosynthesis in the bone marrow, and also causes protoporphyrin accumulation. Although historically the management of EPP and XLP (collectively termed protoporphyria) centered around avoidance of sunlight, novel therapies have recently been approved or are in development, which will alter the therapeutic landscape for these conditions. We present 3 patient cases, highlighting key treatment considerations in patients with protoporphyria, including (1) approach to photosensitivity, (2) managing iron deficiency in protoporphyria, and (3) understanding hepatic failure in protoporphyria. The pathophysiology of erythropoietic protoporphyria and other protoporphyrias is based on disordered heme synthesis, porphyrin transport, and their effects on the skin and liver. Leaf and Dickey provide a comprehensive guide on how to approach the care of patients with these rare inherited diseases and an update on the recent development of novel therapies.
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DOI：
10.3390/diagnostics12020272
发表时间：
2022-01-21
期刊：
Diagnostics (Basel, Switzerland)
影响因子：
--
作者：
Buzzetti E;Ventura P;Corradini E
通讯作者：
Corradini E
DOI：
10.1177/003591577106400609
发表时间：
1971-01-01
期刊：
PROCEEDINGS OF THE ROYAL SOCIETY OF MEDICINE-LONDON
影响因子：
--
作者：
BAKER, H
通讯作者：
BAKER, H
影响因子：
4.2
作者：
Barman-Aksoezen, Jasmin;Girelli, Domenico;Biolcati, Gianfranco
通讯作者：
Biolcati, Gianfranco
影响因子：
2.3
作者：
Barman-Aksoezen, Jasmin;Beguin, Chantal;Minder, Elisabeth I.
通讯作者：
Minder, Elisabeth I.
影响因子：
15.9
作者：
BONKOWSKY, HL;BLOOMER, JR;MAHONEY, MJ
通讯作者：
MAHONEY, MJ