Acute Intermitent Porphyria

低血鈉症是住院病人最常見之電解質不平衡而所造成的原因非常多。低血鈉症的治療最主要是和致病原因有關，然而，有時候很難找出致病原因。我們在此提出一個案，病患是三十六歲女性，病人曾經有間斷性的嚴重腹痛及數次全身性癲癇發作。入院時的血壓是140/100 mmHg，心跳速率是每分鐘110次，病人的意識是清楚的並且沒有神經學方面的缺陷，腹部的檢查並沒有很明顯的異常。最顯著的血清異常是低血鈉症（115~121mmol/L），類似抗利尿激素分泌症候群〔SIADH〕的表現。內分泌荷爾蒙檢查是正常的。低血鈉症對生理食鹽水的治療並沒有效果。但是當病人的腹痛症狀消失時，病人的低血鈉症就自動恢復了。兩個星期後病人的症狀又復發而且血清學又發現了低血鈉症（116 mmol/L），在第二次發作時Watson-Schwart試驗的結果是陽性同時尿中糞膽素原（Coproporphorin）之濃度也增加，這與急性間歇性紫質症（Acute intermittent porphyria）的診斷是一致的。此案例的臨床表現所提醒我們的是急性間歇性紫質症可用低血鈉症作臨床表現，當病人有低血鈉症及不明原因之腹痛症狀時，急性間歇性紫質症須列入鑑別診斷。

關鍵字

急性間歇性紫質症；低血鈉症；異常抗利尿激素分泌症候群

並列摘要

Hyponatremia is one of the most common electrolyte disorders in the hospitalized patients and can result from a wide range of causes. The treatment of hyponatremia depends on the underlying disorders, though the cause is sometimes difficult to identify. We present a 36-year female who developed intermittent abdominal pain and episodes of generalized seizure. Hypertension with BP 140/100 mmHg and tachycardia with heart rate 110/min were noticed. Her consciousness was alert without neurological deficits. Abdominal examinations were unremarkable and the hormonal studies were normal. However, her serum sodium concentration was strikingly low (115-121mmol/L), mimicking the laboratory diagnostic criteria of the syndrome of inappropriate secretion of anti-diuretic hormone (SIADH). The hyponatremia was refractory to normal saline infusion, but resolved spontaneously when abdominal pain was completely relieved. The patient again developed hyponatremia (116mmol/L) with the same clinical symptoms two weeks later. Positive Watson-Schwart test and increased urinary coproporphyrins pointed to the diagnosis of acute intermitternt prophyria during the second acute attack. This case highlights that hyponatremia may be the presenting feature of acute intermittent porphyria, which should be kept in mind when making differential diagnosis of hyponatremia and simultaneous unexplained abdominal pain.

並列關鍵字

acute intermittent prophyria ； hyponatremia ； syndrome of inappropriate secretion of anti-diuretic hormone ； SIADH

國際替代計量

Acute Intermitent Porphyria

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