Diagnostic and Therapeutic Challenges in an Acute Variegate Porphyric Crisis Complicated by Anuric Renal Failure and Multiorgan Dysfunction: A Case Report.

IF 1 Q3 MEDICINE, GENERAL & INTERNAL
Peter B Conroy, Sue Davel, Jacques A J Malherbe, Simon J Carrivick, Edward N Briggs
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引用次数: 0

Abstract

BACKGROUND Acute porphyrias arise from genetic defects in heme synthesis. Significant increases in urine porphobilinogen (PBG) levels are diagnostic, enabling further testing and the commencement of targeted therapies. We report a rare case of an elderly woman with a delayed diagnosis of acute variegate porphyria (VP) neurovisceral crisis, anuria, and multiorgan failure precipitated by methicillin-sensitive Staphylococcus aureus (MSSA) sepsis. Diagnostic and therapeutic difficulties confirming an acute VP crisis in the anuric patient are explored. CASE REPORT A 77-year-old South African woman presented with undifferentiated MSSA sepsis. Despite escalation to intensive care and treatment of her infection, she developed encephalopathy, tetraparesis, autonomic dysfunction, and anuric renal failure, requiring renal replacement therapy. Given her anuric state, novel assays of the dialysate effluent were performed and revealed elevated PBG levels. Xanthochromic cerebrospinal fluid was also obtained. Taken together with confirmatory plasma porphyrin spectrography, an acute VP neurovisceral crisis with multiorgan failure was established. Intravenous heme-arginate combined with extracorporeal filtration via continuous renal replacement therapy and therapeutic plasma exchange were initiated. Inappropriate blood leak detector clamping occurred during extracorporeal filtration due to the presence of porphyrins in the effluent. Despite these aggressive measures, the patient died due to her illness. CONCLUSIONS Progressive neurological compromise, coupled with undifferentiated multiorgan failure, should prompt consideration of an underlying acute porphyric crisis. In anuric porphyria patients, PBG assays of extracorporeal circuit effluents may be of diagnostic value. Effluent PBGs can interfere with the extracorporeal circuit blood leak detector, thereby offering further clinical suspicion of an underlying acute porphyric crisis.

急性多样化卟啉症合并无尿肾衰竭和多器官功能障碍的诊断和治疗挑战:1例报告。
背景:急性卟啉症是由血红素合成的遗传缺陷引起的。尿卟啉胆色素原(PBG)水平的显著升高是一种诊断,可以进一步检测并开始靶向治疗。我们报告一个罕见的老年妇女延迟诊断急性多样卟啉症(VP)神经内脏危机,无尿,多器官功能衰竭由甲氧西林敏感金黄色葡萄球菌(MSSA)败血症。诊断和治疗的困难,确认急性VP危象在无尿病人探讨。病例报告一名77岁的南非妇女表现为未分化的MSSA败血症。尽管病情升级到重症监护和感染治疗,她还是出现了脑病、四肢麻痹、自主神经功能障碍和无尿肾衰竭,需要肾脏替代治疗。鉴于她的无尿状态,对透析液流出物进行了新的分析,发现PBG水平升高。还获得了黄色脑脊液。结合确认性血浆卟啉谱图,确定急性VP神经内脏危象伴多器官衰竭。静脉注射精氨酸血红素联合体外滤过通过持续肾脏替代治疗和治疗性血浆交换。由于流出物中卟啉的存在,在体外过滤过程中发生了不适当的血液泄漏检测器夹紧。尽管采取了这些积极的措施,病人还是死于疾病。结论:进行性神经损害,加上未分化的多器官功能衰竭,应提示考虑潜在的急性卟啉危机。在无尿卟啉症患者中,体外循环液的PBG测定可能具有诊断价值。流出物PBGs可以干扰体外循环血液泄漏检测器,从而提供潜在急性卟啉危机的进一步临床怀疑。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
American Journal of Case Reports
American Journal of Case Reports Medicine-Medicine (all)
CiteScore
1.80
自引率
0.00%
发文量
599
期刊介绍: American Journal of Case Reports is an international, peer-reviewed scientific journal that publishes single and series case reports in all medical fields. American Journal of Case Reports is issued on a continuous basis as a primary electronic journal. Print copies of a single article or a set of articles can be ordered on demand.
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