摘要
原發性高醛固酮症(primary aldosteronism；PA)來自於腎上腺皮質分泌過多的醛固酮，其臨床病徵的印象是高血壓與低血鉀。單側腺瘤(aldosterone-producing adenoma；APA)及雙側增生(bilateral adrenal hyperplasia；BAH)是最重要的兩種亞型，前者多數可以單側腎上腺切除治癒，而後者以藥物治療為主。一般高血壓族群中約一成的病患是因此內分泌相關疾病造成，同時也是內分泌高血壓中最常見的原因之一。近幾年高醛固酮症的進展已經進入基因及分子生物學的領域，KCNJ5基因體突變造成鉀離子通道失調是目前已知腺瘤中比例最高的相關基因，在亞洲族群中約佔六至七成之多。診斷第一步是利用血清醛固酮濃度(plasmaaldosterone concentration；PAC)與腎素活性(plasma renin activity；PRA)之比值(aldosteroneto renin ratio；ARR)做為篩選檢驗(screening test)，接著以確認檢測(confirmatory tests)確診為原發性高醛固酮症，再以電腦斷層判斷病灶型態，但仍必須施行侵入性的腎上腺靜脈採血(adrenal venous sampling；AVS)或非侵入性的核子醫學腎上腺掃描平面造影(NP-59 SPECT/CT)來定位做為手術部位的依據。美國內分泌學會新版的原發性高醛固酮症指導原則已於今年(2016)發表，其中將符合臨床典型的單側醛固酮分泌腺瘤病患可考慮依據電腦斷層影像直接施行單側腎上腺切除的年齡從40歲下降至35歲以下。除此之外，目前專家建議病患在低血鉀的狀態之下篩檢陽性，腎素仍偵測不到且血清醛固酮濃度大於20 ng/dL以上者，可不做確認檢測即已確診為原發性高醛固酮症。文獻業已證實長期處於過多的醛固酮會對身體器官造成傷害或影響其生理功能，包括心臟、血管、胰臟、腎臟、副甲狀腺及骨頭等等，此外原發性高醛固酮症的病患也常表現焦慮及心情低落。因此臨床醫師若能早期對原發性高醛固酮症進一步積極診治，必然是高血壓病患一大福音。
並列摘要
The common characteristics of primary aldosteronism (PA) are hypertension and spontaneous hypokalemia due to dysregulation of superabundant aldosterone from the adrenal cortex. PA is one of the most common causes of endocrine hypertension and affects about 10% of the general hypertensive population. Unilateral aldosteroneproducing adenoma (APA) and bilateral adrenal hyperplasia (BAH) are two major subtypes. The former has a hypertension cure rate about 20 to 72% after surgical intervention while the latter should be treated as mineralocorticoid antagonist. The KCNJ5 gene somatic mutation resulting in potassium channelopathy has known to play a major role of APA. KCNJ5-mutatnt carriers attribues for 60 to 70% of the APA patients in Asia. We could use plasma aldosterone to renin ratio (ARR) as an initial screening test and then do confirmatory tests. After confirmation of PA, adrenal computed tomography (CT) should be performed in all. Before surgery, lateralization with invasive adrenal venous sampling (AVS) or noninvasive adrenal scintigraphy (NP-59 SPECT/CT) was necessary to identify the origin of excess aldosterone. Evidence shows long-term exposure to excess aldosterone results in organ damage or dysfunction including cardiac, blood vessel, pancreas, kidney, parathyroid, bone, psychiatric disorder etc. In view of this, it could be better for the general hypertensive population if the clinician could have more awareness on diagnosis and management of PA.
延伸閱讀
- 謝月貞、吳允升、朱宗信、陳舒惠、陳裕仁、簡毓芬、林俊仁、吳寬墩（2007）。原發性皮質醛酮症：病例報告。台灣醫學，11(6)，612-617。https://doi.org/10.6320/FJM.2007.11(6).03
- 曾黃泱、陳逸洲、吳志仁、王柏川（2010）。原發性高醛固酮症的診斷與治療。內科學誌，21(3)，184-191。https://doi.org/10.6314/JIMT.2010.21(3).04
- 林曉華、林博彥（2015）。原發性高分泌醛固酮之鑑別診斷及案例分享。台灣醫檢會報，30(4)，31-38。https://www.airitilibrary.com/Article/Detail?DocID=P20140729002-201512-201601190007-201601190007-31-38
- 潘筱芳（2021）。原發性高醛固酮症之診斷與治療。臨床醫學月刊，88(4)，637-641。https://doi.org/10.6666/ClinMed.202110_88(4).0105
- （1961）。Abstracts from Current Literature。Acta Paediatrica Sinica，2(3)，225-227。https://www.airitilibrary.com/Article/Detail?DocID=00016578-196109-2-3-225-227-a