Azañero-Haro Johan Alexander, Chambi-Pérez Liliana Valeri, Alcántara-Díaz Andrés Martín, Piscoya-Silva Tatiana Edmee, Soto-Tarazona Alonso Ricardo
Universidad Ricardo Palma, Instituto de Investigaciones en Ciencias Biomédicas (INICIB), Facultad de Medicina. Lima, Perú.
Hospital Nacional Hipólito Unánue, Departamento de Medicina Interna. Lima, Perú.
Rev Med Inst Mex Seguro Soc. 2023 Mar 1;61(2):227-233.
Acute intermittent porphyria (AIP) is an uncommon metabolic disease, being the most common of the acute porphyrias. The most frequent symptom is acute abdominal pain, although can be accompanied by seizures, neuro-psychiatric alterations or symmetrical motor neuropathies, which in some patients can progress to respiratory musculature paralysis.
To describe an atypical presentation of acute porphyria to be considered as differential diagnoses in abdominal pain.
We present a case of a patient with AIP, presenting acute abdomen, seizures, later developed neuropsychiatric compromise and symmetrical motor neuropathy, and was admitted to mechanical ventilation. Due to the severity of the neurological involvement, he received hemin arginate, presenting with transient hypertransaminemia, an adverse event not previously reported. The evolution was favorable, with mechanical ventilation and hospital discharge withdrawn.
The diagnosis of AIP should be considered in cases of acute abdominal pain associated with neurological and/or psychiatric symptoms, particularly young women. The administration of hemin is considered the standard of treatment, and even late could have beneficial effects.
急性间歇性卟啉病（AIP）是一种罕见的代谢性疾病，是急性卟啉病中最常见的一种。最常见的症状是急性腹痛，尽管可能伴有癫痫发作、神经精神改变或对称性运动神经病，在某些患者中这些症状可能进展为呼吸肌麻痹。
描述一种急性卟啉病的非典型表现，以便在腹痛的鉴别诊断中予以考虑。
我们报告一例急性间歇性卟啉病患者，表现为急腹症、癫痫发作，随后出现神经精神损害和对称性运动神经病，并接受了机械通气治疗。由于神经受累严重，他接受了精氨酸血红素治疗，出现了短暂性高转氨酶血症，这是以前未报告过的不良事件。病情进展良好，撤掉了机械通气并出院。
对于伴有神经和/或精神症状的急性腹痛病例，尤其是年轻女性，应考虑急性间歇性卟啉病的诊断。给予精氨酸血红素被认为是治疗的标准方法，即使较晚使用也可能有有益效果。
