急性间歇性卟啉症的治疗策略。
Therapeutic strategies for acute intermittent porphyria.
作者信息
Zhao Lanlan, Wang Xinyang, Zhang Xiaoning, Liu Xiantao, Ma Ningzhen, Zhang Yiran, Zhang Songyun
机构信息
Department of Endocrinology, The second Hospital of Hebei Medical University, Shijiazhuang, Hebei, China.
School of First Clinical Medical College, Southern Medical University, Guangzhou, Guangdong, China.
出版信息
Intractable Rare Dis Res. 2020 Nov;9(4):205-216. doi: 10.5582/irdr.2020.03089.
Acute intermittent porphyria (AIP) is an autosomal dominant disease caused by mutations in porphobilinogen deaminase (PBGD), the third enzyme of the heme synthesis pathway. Symptoms of AIP usually manifest as intermittent acute attacks with occasional neuropsychiatric crises. The management of AIP includes treatment of acute attacks, prevention of attacks, long-term monitoring and treatment of chronic complications. Intravenous injection of heme is the most effective method of treating acute attacks. Carbohydrate loading is used when heme is unavailable or in the event of mild attacks. Symptomatic treatment is also needed during attacks. Prevention of attacks includes eliminating precipitating factors, heme prophylaxis and liver transplantation. New treatment options include givosiran (siRNA) to down-regulate ALA synthase-1 (ALAS1) and the messenger RNA of PBGD (PBGD mRNA) delivered to the liver cells of patients with AIP. Long-term monitoring of chronic complications includes regular liver-kidney function and hepatocellular carcinoma (HCC) screening.
急性间歇性卟啉病（AIP）是一种常染色体显性疾病，由血红素合成途径的第三种酶——胆色素原脱氨酶（PBGD）突变引起。AIP的症状通常表现为间歇性急性发作，偶尔伴有神经精神危机。AIP的治疗包括急性发作的治疗、发作的预防、长期监测以及慢性并发症的治疗。静脉注射血红素是治疗急性发作最有效的方法。当无法获得血红素或发生轻度发作时，采用碳水化合物负荷疗法。发作期间也需要对症治疗。发作的预防包括消除诱发因素、血红素预防和肝移植。新的治疗选择包括吉沃西坦（siRNA）下调δ-氨基-γ-酮戊酸合酶-1（ALAS1）以及将PBGD信使核糖核酸（PBGD mRNA）递送至AIP患者的肝细胞。慢性并发症的长期监测包括定期进行肝肾功能和肝细胞癌（HCC）筛查。
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