Bustos José, Vargas Ledmar, Quintero Ricardo
Servicio de Neurología, Hospital San Rafael, Tunja, Colombia; Escuela de Medicina, Universidad Pedagógica y Tecnológica de Colombia, Tunja, Colombia; Escuela de Medicina, Universidad de Boyacá, Tunja, Colombia.
Servicio de Neurología, Hospital San Rafael, Tunja, Colombia; Escuela de Medicina, Universidad de Boyacá, Tunja, Colombia.
Biomedica. 2020 Mar 1;40(1):14-19. doi: 10.7705/biomedica.4767.
The term ‘porphyria’ comes from the Greek ‘porphyra’. It refers to a heterogeneous group of metabolic disorders caused by the enzymatic deficiency in the biosynthesis of the heme group. Acute intermittent porphyria is caused by a deficiency of the porphobilinogen deaminase enzyme. A 40-year-old woman presented with abdominal pain for ten days (which required laparotomy that evidenced no surgical pathology), severe hydroelectrolytic disorder due to hyponatremia and resistant hypokalemia, persistent tachycardia and hypertension. Seven days later, she developed acute flabby quadriparesis and presented a single generalized tonic-clonic convulsive crisis. Neurophysiological studies supported mixed axonal polyneuropathy and urine results of porphobilinogen and porphyrins were elevated. After acute intermittent porphyria was diagnosed, hemin was administered, which stabilized the patient’s clinical signs and normalized the porphobilinogen. The prevalence of this entity is 1 in 2,000 people. It is an autosomal dominant disease, which affects mainly women between 20 and 40 years of age. This entity manifests with neurological and visceral symptoms. Management consists of hematin and dextrose administration avoiding hypotonic solutions because of the risk of exacerbating hyponatremia.
“卟啉症”一词源于希腊语“porphyra”。它指的是一组由血红素生物合成过程中酶缺乏引起的异质性代谢紊乱疾病。急性间歇性卟啉症是由胆色素原脱氨酶缺乏所致。一名40岁女性因腹痛10天就诊（曾接受剖腹手术，但未发现手术病理异常），因低钠血症和难治性低钾血症出现严重水电解质紊乱，伴有持续性心动过速和高血压。7天后，她出现急性弛缓性四肢瘫，并发生了一次全身性强直阵挛性惊厥发作。神经生理学研究支持混合性轴索性多发性神经病，尿液中胆色素原和卟啉水平升高。诊断为急性间歇性卟啉症后，给予血红素治疗，患者临床症状得以稳定，胆色素原水平恢复正常。该疾病的患病率为两千分之一。它是一种常染色体显性疾病，主要影响20至40岁的女性。该疾病表现为神经和内脏症状。治疗包括给予血红素和葡萄糖，避免使用低渗溶液，因为有加重低钠血症的风险。
