原发性双侧肾上腺皮质大结节增生的研究进展

Research progress of primary bilateral macronodular adrenal hyperplasia

原发性双侧肾上腺大结节增生(primary bilateral macronodular adrenal hyperplasia,PBMAH)是内源性库欣综合征的罕见病因。PBMAH的患者中,表现为典型的双侧肾上腺增生和(或)典型的皮质醇增多症的情况较为罕见,其临床特征为双侧肾上腺良性大结节样增生伴不同程度的皮质醇增多。多数患者为影像学检查偶然发现,且以轻度皮质醇分泌障碍患者较为常见。近年来,对PBMAH的病理生理学和遗传学研究取得了进展,PBMAH的发生机制涉及多种基因异常,多表现为常染色体显性遗传并存在家族聚集现象。然而,PBMAH的发病机制未明确,对其临床特征和诊治方法的认识尚未统一,临床上依旧存在较多误诊和漏诊的情况。本文对国内外关于PBMAH的研究进行了综述,总结了其定义、临床表现、影像学特征、分子诊断技术和治疗方法。旨在加深临床医师对该病的认识和关注,提高诊断准确率,并为PBMAH的分子诊断研究和治疗策略提供新的思路。

Primary bilateral macronodular adrenal hyperplasia(PBMAH)is a rare etiology of endogenous Cushing's syndrome.Atypical bilateral adrenal hyperplasia and/or atypical hypercortisolism are infrequent in patients with PBMAH,which is clinically characterized by benign bilateral macronodular adrenal hyperplasia with varying degrees of hypercortisolism.The majority of PBMAH is incidentally found through imaging examination,with mild cortisol secretion disorders being more common.In recent years,significant progress has been made in the understanding of the pathophysiology and genetics underlying PBMAH.The mechanism involves various gene abnormalities,predominantly exhibiting autosomal dominant inheritance and familial aggregation.However,the pathogenesis of PBMAH is not clear,and there is no unified understanding of the clinical characteristics and diagnosis and treatment methods.Misdiagnosis and missed diagnosis occur frequently in clinical practice.This review summarizes research on PBMAH both domestically and internationally while providing an overview of the definition,clinical manifestations,imaging features,molecular diagnostic techniques,and treatment methods of PBMAH,aiming to deepen clinicians'understanding and attention to this disease,improve diagnostic accuracy,and offer new insights for molecular diagnostics research as well as treatment strategies of PBMAH.