Mogoş D, Guran M, Marinescu Sidonia, Firescu Maria, Teodorescu M, Marinescu A G, Lama Engela
Clinica Chirurgie IV Spitalul Universitar C.F. Craiova.
Chirurgia (Bucur). 2004 Jul-Aug;99(4):247-53.
This article presents a case of acute intermittent porphyria admitted to the Surgery Department of C.F. Craiova Hospital between 18.08.2003-26.08.2003 then transferred to the Colentina Hospital in Bucharest for diagnosis confirmation and adequate treatment. The purpose of this paper is to bring attention on a rare metabolic inherited disease that, due to its non-specific and often noisy symptoms and limited possibilities of biochemical, enzymatic and genetic diagnosis, could generate potential serious confusions. The presentes case illustrates the fact that sometimes the acute attack may be mistaken for an acute surgical affection which requires an emergency operation with all the aggravating consequences and delay in the real diagnosis. About 1% of acute attacks of porphyria may be fatal. Only the drugs known as safe should be prescribed. Basic treatment consists in oral and intravenous glucose and hematin administration.
本文介绍了一例急性间歇性卟啉病病例，该患者于2003年8月18日至2003年8月26日入住克拉约瓦市C.F.医院外科，随后转至布加勒斯特的科伦蒂纳医院进行诊断确认和适当治疗。本文的目的是引起人们对一种罕见的代谢性遗传病的关注，由于其症状不具特异性且常常复杂多变，以及生化、酶学和基因诊断的可能性有限，可能会产生潜在的严重混淆。本病例说明了这样一个事实，即有时急性发作可能被误诊为需要紧急手术的急性外科疾病，这会带来所有加重的后果，并延误真正的诊断。约1%的卟啉病急性发作可能是致命的。仅应开具已知安全的药物。基本治疗包括口服和静脉注射葡萄糖以及给予血红素。
