以反覆性腹痛合併癲癇表現之急性間歇性紫質症

Abstract

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。  Acute intermittent porphyria is a rare genetic metabolic disease. In this case, a 38-year-old female pa-tient who experienced recurrent abdominal pain with nausea, vomiting, and diarrhea, following with epileptic seizures and acute respiratory failure. After the laboratory and image examinations, hypona-tremia and leukocytosis were only noted without other abnormal findings. Because of brownish urine, further laboratory examinations were performed. High level of aminolevulinic acid and porphobilino-gen 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 im-proved, 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.