Department of Medicine, Division of Endocrinology, Diabetes and Clinical Nutrition, Oregon Health & Science University, Portland, OR, USA.
Department of Neurological Surgery, Oregon Health & Science University, Portland, OR, USA.
Nat Rev Endocrinol. 2023 Oct;19(10):581-599. doi: 10.1038/s41574-023-00868-7. Epub 2023 Aug 3.
Cushing disease caused by an adrenocorticotropic hormone (ACTH)-secreting pituitary corticotroph adenoma leads to hypercortisolaemia with high mortality due to metabolic, cardiovascular, immunological, neurocognitive, haematological and infectious conditions. The disorder is challenging to diagnose because of its common and heterogenous presenting features and the biochemical pitfalls of testing levels of hormones in the hypothalamic-pituitary-adrenal axis. Several late-night salivary cortisol and 24-h urinary free cortisol tests are usually required as well as serum levels of cortisol after a dexamethasone suppression test. MRI might only identify an adenoma in 60-75% of patients and many adenomas are small. Therefore, inferior petrosal sinus sampling remains the gold standard for confirmation of ACTH secretion from a pituitary source. Initial treatment is usually transsphenoidal adenoma resection, but preoperative medical therapy is increasingly being used in some countries and regions. Other management approaches are required if Cushing disease persists or recurs following surgery, including medications to modulate ACTH or block cortisol secretion or actions, pituitary radiation, and/or bilateral adrenalectomy. All patients require lifelong surveillance for persistent comorbidities, clinical and biochemical recurrence, and treatment-related adverse effects (including development of treatment-associated hypopituitarism). In this Review, we discuss challenges in the management of Cushing disease in adults and provide information to guide clinicians when planning an integrated and individualized approach for each patient.
库欣病是由促肾上腺皮质激素(ACTH)分泌的垂体促肾上腺皮质细胞瘤引起的,由于代谢、心血管、免疫、神经认知、血液和感染等情况,导致皮质醇过高,死亡率高。由于其常见且异质的表现特征,以及下丘脑-垂体-肾上腺轴中激素水平检测的生化陷阱,该疾病的诊断具有挑战性。通常需要进行多次午夜唾液皮质醇和 24 小时尿游离皮质醇检测,以及地塞米松抑制试验后的血清皮质醇水平检测。MRI 仅能在 60-75%的患者中识别出腺瘤,而且许多腺瘤很小。因此,岩下窦采血仍然是确认 ACTH 来源于垂体的金标准。初始治疗通常是经蝶窦腺瘤切除术,但在一些国家和地区,术前药物治疗越来越多地被使用。如果手术后库欣病仍然存在或复发,需要其他治疗方法,包括调节 ACTH 或抑制皮质醇分泌或作用的药物、垂体放疗和/或双侧肾上腺切除术。所有患者都需要终身监测持续性合并症、临床和生化复发以及与治疗相关的不良反应(包括治疗相关的垂体功能减退症的发展)。在这篇综述中,我们讨论了成人库欣病管理中的挑战,并提供了信息,以指导临床医生为每位患者制定综合和个体化的治疗方案。