- 期刊
Acute Intermittent Porphyria-A Rare Autosomal Dominant Disorder Presenting as Acute Abdominal Pain
急性間歇性紫質症：一個以急性腹痛表現的罕見體染色體顯性遺傳疾病之病例報告
摘要
急性腹痛是臨床上常見的一種症狀，但很多疾病都可能以急性腹痛表現，確診有時相當困難。一位36歲的女性急性腹痛，初步無法找到病因，後來問及紫質症（porphyria）的家族病史，檢查尿中的紫質（porphyrin）果然呈現陽性，之後給予靜脈注射葡萄糖、血晶素（hemin），症狀逐漸改善。對於無法解釋的腹痛，急性間歇性紫質症（acute intermittent porphyria）必須列入鑑別診斷，特別是有此家族史、或伴隨其他神經內臟（neurovisceral）症狀，例如：嘔吐、便秘、肌肉無力等。確定診斷才能及時給予適當的治療，以防止進一步的神經學傷害。
關鍵字
無資料並列摘要
Abdominal pain is a common symptom with a broad spectrum of etiologies and is sometimes a challenge to approach. We report a rare case of acute intermittent porphyria presenting as acute abdominal pain. Acute intermittent porphyria should be considered in patients with unexplained abdominal pain, especially linked to a suspected family history or accompanied by other neurovisceral symptoms, such as vomiting, constipation, and muscle weakness. An accurate diagnosis is important in order to initiate appropriate therapy and avoid progressive neurologic damage.