Shively B D, Clochesy J M, Briones J P, Spositio D L, Kloos J A
AACN Clin Issues Crit Care Nurs. 1994 Feb;5(1):36-41. doi: 10.1097/00044067-199402000-00006.
The porphyrias are a group of metabolic disorders of heme biosynthesis genetically determined defects. Acute intermittent porphyria is the most common form of porphyria found in the United States. It is caused by a genetic defect in chromosome 11, where one of two genes for porphobilinogen deaminase is defective. Acute intermittent porphyria is characterized by intermittent, acute, occasionally fatal attacks of abdominal, neurologic, psychiatric, and renal symptoms. Attacks are often confused with acute abdomen or bowel obstruction. A variety of drug, hormonal, nutritional, and infectious factors can precipitate clinical symptoms. Managing patients with acute intermittent porphyria involves removing the precipitating factors, increasing carbohydrate intake, controlling pain, and administering medications. A case study is provided.
卟啉病是一组由遗传决定的血红素生物合成代谢紊乱疾病。急性间歇性卟啉病是美国最常见的卟啉病形式。它由11号染色体上的遗传缺陷引起，其中两个胆色素原脱氨酶基因之一存在缺陷。急性间歇性卟啉病的特征是间歇性、急性发作，偶尔会出现腹部、神经、精神和肾脏症状，甚至危及生命。发作常被误诊为急腹症或肠梗阻。多种药物、激素、营养和感染因素可诱发临床症状。急性间歇性卟啉病患者的治疗包括去除诱发因素、增加碳水化合物摄入、控制疼痛和给药。本文提供了一个病例研究。
