Advances in the treatment of acute intermittent porphyria / 临床肝胆病杂志

ABSTRACT

Acute intermittent porphyria (AIP) is a rare disease caused by enzyme deficiency due to HMBS gene mutation and is often life-threatening during acute attack. This article introduces the traditional treatment methods for AIP, such as high-carbohydrate therapy and intravenous heme infusion, as well as several emerging therapies targeting the etiology of AIP, including enzyme replacement therapy and gene therapy with multiple strategies of DNA gene augmentation, mRNA gene augmentation, and RNAi gene silencing. It is worth noting that breakthroughs have been made in Givosiran, a drug based on RNAi gene silencing, and it has been used in clinical practice. Gene therapy targeting the etiology of AIP may become a new trend in the treatment of rare diseases in the future.