Vogel Frederick, Braun Leah, Reincke Martin
Medizinische Klinik und Poliklinik IV, LMU Klinikum, Ziemssenstraße 5, 80336, München, Deutschland.
Internist (Berl). 2022 Jan;63(1):34-42. doi: 10.1007/s00108-021-01222-7. Epub 2021 Dec 20.
Endogenous Cushing's syndrome is a rare endocrine disorder that is fatal if left untreated. It can be distinguished into adrenocorticotropic hormone (ACTH)-dependent (central and ectopic Cushing's syndrome) and ACTH-independent subtypes (unilateral or bilateral adrenal adenomas). The clinical presentation of patients includes typical stigmata of cortisol excess with physical symptoms of catabolic metabolism (myopathy, striae, parchment skin, osteoporosis) and components of metabolic syndrome (diabetes mellitus, obesity, arterial hypertension, hypercholesterolemia). Biochemical diagnosis is performed in three steps: 1. Confirmation of the diagnosis by 1‑mg dexamethasone suppression test, 24‑h urine free cortisol, and measurement of late-night salivary cortisol. 2. Differentiation of ACTH-dependent Cushing's syndrome from ACTH-independent adrenal Cushing's syndrome by measurement of plasma ACTH. 3. Further subtyping by corticotropin-releasing hormone (CRH) test, inferior petrosal sinus sampling, and imaging modalities. Therapeutic decisions are made on an interdisciplinary basis. First-line therapy for all subtypes is surgery when possible; additional options for all forms include drug therapy and bilateral adrenalectomy. Despite adequate treatment, Cushing's syndrome is associated with increased long-term morbidity and mortality. Interdisciplinary and multimodal therapy management is necessary in the long term to positively influence mortality and reduced quality of life.
内源性库欣综合征是一种罕见的内分泌疾病,若不治疗可致命。它可分为促肾上腺皮质激素(ACTH)依赖性(中枢性和异位性库欣综合征)和ACTH非依赖性亚型(单侧或双侧肾上腺腺瘤)。患者的临床表现包括皮质醇过多的典型体征以及分解代谢的身体症状(肌病、紫纹、皮肤菲薄、骨质疏松)和代谢综合征的组成部分(糖尿病、肥胖、动脉高血压、高胆固醇血症)。生化诊断分三步进行:1. 通过1毫克地塞米松抑制试验、24小时尿游离皮质醇和测定午夜唾液皮质醇来确诊。2. 通过测定血浆ACTH将ACTH依赖性库欣综合征与ACTH非依赖性肾上腺库欣综合征区分开来。3. 通过促肾上腺皮质激素释放激素(CRH)试验、岩下窦取样和影像学检查进一步分型。治疗决策基于多学科做出。所有亚型的一线治疗尽可能是手术;所有类型的其他选择包括药物治疗和双侧肾上腺切除术。尽管进行了充分治疗,库欣综合征仍与长期发病率和死亡率增加相关。长期来看,多学科和多模式治疗管理对于积极影响死亡率和改善生活质量是必要的。