Castelbón Fernández F J, Solares Fernandez I, Arranz Canales E, Enríquez de Salamanca Lorente R, Morales Conejo M
Grupo CSUR de errores congénitos del metabolismo en el adulto, Hospital Universitario 12 de Octubre, Madrid, España.
Servicio de Medicina Interna, Hospital Universitario 12 de Octubre, Madrid, España.
Rev Clin Esp. 2020 Dec;220(9):592-596. doi: 10.1016/j.rce.2019.10.012. Epub 2020 Mar 3.
Porphyrias are a group of congenital errors in porphyrin metabolism and in the heme biosynthetic pathway. Accumulation of porphyrin precursors (delta-aminolaevulinic acid and porphobilinogen) is responsible for the neurovisceral crises of acute porphyria, which, when expressed clinically, start with intense abdominal pain. During crises, the urinary elimination of porphobilinogen and delta-aminolaevulinic acid is always very high. Excessive porphobilinogen concentration in urine is easily identified using the simple Hoesch test. A negative test rules out a current porphyric crisis. The clinical protocol for patients with acute abdominal pain of unknown origin in whom a positive Hoesch test leads to the suspicion of acute porphyria is based on the following aspects: initial clinical assessment in the emergency department, suppression of potential triggers, specific treatment for the crisis with hemin and/or glucose overload and symptomatic treatment.
卟啉病是一组卟啉代谢和血红素生物合成途径中的先天性缺陷。卟啉前体（δ-氨基乙酰丙酸和胆色素原）的积累是急性卟啉病神经内脏危象的原因，临床表现时，始于剧烈腹痛。在危象期间，尿中胆色素原和δ-氨基乙酰丙酸的排泄量总是非常高。使用简单的霍施试验很容易识别尿中胆色素原浓度过高。阴性试验可排除当前的卟啉危象。对于不明原因急性腹痛且霍施试验阳性导致怀疑急性卟啉病的患者，临床方案基于以下方面：急诊科的初始临床评估、抑制潜在诱因、用血红素和/或葡萄糖过载对危象进行特异性治疗以及对症治疗。
