原發性副甲狀腺機能亢進症 (Primary hyperparathyroidism) 是一易被忽略的疾病，臨床上常以尿路結石 (Urolithiasis)、骨質疏鬆等症狀來表現。目前臺灣地區民眾在診斷此類疾病時，合併尿路結石的比率還是偏高，所以臨床醫師對於不明原因的高血鈣或反覆發生的尿路結石，應注意此疾病的可能性。此外，由於血清中鈣離子與原態副甲狀腺素 (Intact parathyroid hormone) 檢驗技術的發展，我們可以早期診斷並減少其併發症，而副甲狀腺超音波以及副甲狀腺核子醫學掃瞄 (Parathyroid technetium-sestambi scan) 更提供一個有效及準確的手術前定位，而對於兩者結果不相符合或是與甲狀腺腫瘤無法區別的情況，利用超音波導引進行細針穿刺細胞學檢查能提供更準確的定位及診斷，其他如電腦斷層及磁振攝影則主要用於手術失敗或再度稪發的病患。在治療方面，副甲狀腺切除手術是目前唯一能有效根治的方法，其中微創放射導引副甲狀腺切除手術 (Minimally invasive radioguided parathy-roidectomy) 的發展則可有效縮短手術時間及其併發症。藥物治療主要使用於無症狀或血鈣正常的患者，但對於有症狀又無法接受手術的患者而言，經皮酒精注射治療 (Percutaneous ethanol injection therapy) 則是另一項可以考慮的替代療法。

Primary hyperparathyroidism, an often overlooked disease, is complicated by a past history of conditions such as urolithiasis and osteoporosis. Due to a high incidence of urolithiasis in Taiwan, primary hyperparathyroidism should be considered in patients with hypercalcemia and recurrent urolithiasis. The recent introduction of routine screening of serum calcium and intact parathyroid hormone evaluation is useful in the early detection of this disease. Parathyroid ultrasonography and technetium-sestamibi scans have provided effective preoperative localization of this disease. In patients with equivocal sonographic findings, compared to the abovementioned techniques, ultrasound-guided fine-needle aspiration of the suspected gland is a more specific technique to confirm whether the suspected lesion is of parathyroid origin. Computed tomography and magnetic resonance imaging are generally reserved in cases of unsuccessful initial surgical treatment or recurrent hyperparathyroidism. Parathyroidectomy remains the only definitive therapy for this disease. The development of minimally invasive radioguided parathyroidectomy has enabled a quick and safe approach to this therapy. Medical management is reserved for treating asymptomatic and normal calcemic hyperparathyroidism. Ethanol injection therapy could be an alternative treatment in patients with surgical risk factors or those who are not surgical candidates.