Wang Bruce
Department of Medicine, University of California San Francisco, San Francisco, CA, USA.
Transl Gastroenterol Hepatol. 2021 Apr 5;6:24. doi: 10.21037/tgh-2020-01. eCollection 2021.
The acute hepatic porphyrias (AHP) are a group of four inherited diseases of heme biosynthesis. They present with similar severe, episodic, acute neurovisceral symptoms due to abnormally elevated levels of porphyrin precursors delta-aminolevulinic acid (ALA). Recently genetic screening indicates that the prevalence of mutation carrier state is more common than previously thought, occurring in 1 in 1,500, though the clinical penetrance of symptomatic AHP is low at ~1%. Symptomatic attacks occur primarily in females during their reproductive years. In an acute porphyria attack, the primary symptom is abdominal pain, due to intestinal dysmotility from autonomic nerve injury. Other manifestations include seizures, weakness and mood changes, point to injury involving peripheral and central nervous system. Due to the non-specific nature of the symptoms and signs in AHP, the diagnosis is often delayed by many years. The diagnosis of AHP depends on biochemical evidence of elevated ALA and PBG levels in urine during symptomatic attacks. Genetic testing is used for confirmation of the gene involved and the exact mutation. Treatment involves administration of heme, which downregulates production of ALA. Long-term management centers on educating genetic carriers on avoiding triggers that increase the risk of acute attacks and screening family members.
急性肝卟啉病（AHP）是一组四种遗传性血红素生物合成疾病。由于卟啉前体δ-氨基乙酰丙酸（ALA）水平异常升高，它们表现出相似的严重、发作性急性神经内脏症状。最近的基因筛查表明，突变携带者状态的患病率比以前认为的更为常见，每1500人中就有1人发生，尽管有症状的AHP的临床外显率较低，约为1%。有症状的发作主要发生在育龄期女性。在急性卟啉病发作中，主要症状是腹痛，这是由于自主神经损伤导致肠道运动障碍。其他表现包括癫痫发作、虚弱和情绪变化，表明涉及外周和中枢神经系统的损伤。由于AHP症状和体征的非特异性，诊断往往会延迟多年。AHP的诊断取决于有症状发作期间尿液中ALA和PBG水平升高的生化证据。基因检测用于确认所涉及的基因和确切突变。治疗包括给予血红素，这会下调ALA的产生。长期管理的重点是教育基因携带者避免增加急性发作风险的触发因素，并对家庭成员进行筛查。
