Borrego-Soriano Inés, Hernández-Perdomo Yanieli, Rivas Begoña, Parra-Ramírez Paola, Moreno-Domínguez Óscar, Vega-Cabrera Cristina
Department of Endocrinology and Nutrition, Hospital Universitario La Paz, Madrid 28046, Spain.
Department of Nephrology, Hospital Universitario La Paz, Madrid 28046, Spain.
JCEM Case Rep. 2025 Feb 17;3(3):luaf026. doi: 10.1210/jcemcr/luaf026. eCollection 2025 Mar.
Apparent mineralocorticoid excess syndrome is a rare disorder that can be acquired through inhibition of the enzyme 11 β-hydroxysteroid dehydrogenase type 2 by various substances such as bile acids. We report the case of a 61-year-old woman presenting with painless jaundice. Computed tomography demonstrated a pulmonary as well as a pancreatic tumor, with multiple metastases and dilated bile ducts. Laboratory findings showed persistent hypokalemia despite aggressive enteral and parenteral supplementation, as well as hypertension, metabolic alkalosis, and elevated cholestasis enzymes. Urinary potassium excretion was inappropriately high. Plasma aldosterone concentration was 0.97 ng/dL (26.91 pmol/L) (reference range, 2.21-25.30 ng/dL [61.31-701.82 pmol/L]) and direct renin concentration was 3.9 mIU/L (2.1 ng/L) (reference range, 4.4-46.1 mIU/L [2.53-27.42 ng/L]). Endogenous hypercortisolism was ruled out. After the placement of a metal biliary stent via endoscopic retrograde cholangiopancreatography and the subsequent decrease in cholestasis enzyme levels, potassium levels, hypertension, and metabolic alkalosis gradually normalized. The case was ultimately diagnosed as apparent mineralocorticoid excess syndrome resulting from 11 β-hydroxysteroid dehydrogenase type 2 inhibition caused by elevated bile acids secondary to malignant obstruction of the biliary tract.
表观盐皮质激素过多综合征是一种罕见的疾病,可通过胆汁酸等多种物质抑制11β-羟类固醇脱氢酶2型而获得。我们报告了一例61岁女性无痛性黄疸病例。计算机断层扫描显示肺部和胰腺有肿瘤,伴有多处转移和胆管扩张。实验室检查结果显示,尽管积极进行肠内和肠外补钾,仍持续存在低钾血症,同时伴有高血压、代谢性碱中毒和胆汁淤积酶升高。尿钾排泄异常增高。血浆醛固酮浓度为0.97 ng/dL(26.91 pmol/L)(参考范围为2.21 - 25.30 ng/dL [61.31 - 701.82 pmol/L]),直接肾素浓度为3.9 mIU/L(2.1 ng/L)(参考范围为4.4 - 46.1 mIU/L [2.53 - 27.42 ng/L])。排除了内源性皮质醇增多症。通过内镜逆行胰胆管造影放置金属胆道支架后,胆汁淤积酶水平下降,钾水平、高血压和代谢性碱中毒逐渐恢复正常。该病例最终被诊断为因胆道恶性梗阻继发胆汁酸升高导致11β-羟类固醇脱氢酶2型受抑制而引起的表观盐皮质激素过多综合征。