以反覆性腹痛合併癲癇表現之急性間歇性紫質症

Acute Intermittent Porphyria with Recurrent Abdominal Pain and Epilepsy: A Case Report

許瑞芸(Jui-Yun Hsu) ； 周怡伶(Yi-Ling Chou)

《台灣專科護理師學刊》 9卷2期 (2022/12) Pp. 73-79

摘要

急性間歇性紫質症是一種罕見的遺傳性代謝異常疾病。本案例是一位38歲女性病人，起初反覆性腹痛合併噁心、嘔吐、腹瀉之表現，後續發生癲癇大發作及急性呼吸衰竭，經實驗室檢驗及影像檢查，僅呈現低血鈉、白血球增加，其他無異常發現。由於發現尿液偏褐色，進一步檢驗發現尿液中高胺基酮戊酸、高膽色素原，以及血液中低膽色素原脫胺酶，確診急性間歇性紫質症，經血基質治療後臨床症狀逐漸改善並順利出院。針對此類以腹痛合併癲癇表現的病人，且與低血鈉之徵象並存時，必須將急性紫質症列為鑑別診斷之一，以免延誤治療時機。

關鍵字

急性間歇性紫質症 ； 腹痛 ； 癲癇

並列摘要

Acute intermittent porphyria is a rare genetic metabolic disease. In this case, a 38-year-old female patient who experienced recurrent abdominal pain with nausea, vomiting, and diarrhea, following with epileptic seizures and acute respiratory failure. After the laboratory and image examinations, hyponatremia and leukocytosis were only noted without other abnormal findings. Because of brownish urine, further laboratory examinations were performed. High level of aminolevulinic acid and porphobilinogen of urine, and low level of porphobilinogen deaminase of blood were revealed. Acute intermittent purpura was diagnosed eventually. After human hemin treatment, the clinical symptoms gradually improved, and the patient was then discharged. For such patient with abdominal pain, refractory epilepsy, and coexisting hyponatremia, acute intermittent purpura should be considered as differential diagnosis for punctual treatment.

並列關鍵字

acute intermittent porphyria ； abdominal pain ； epilepsy

參考文獻

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