CT-derived Grape-Like Adrenal Sign (GLAS) helps to identify genetic mutations in Bilateral Macronodular Adrenal Disease

Background. Bilateral macronodular adrenal disease (BMAD) is a rare disorder characterized by bilateral benign macronodules and variable degrees of hypercortisolism. Pathogenic variants in ARMC5 and KDM1A represent the best-established genetic etiologies. However, it remains uncertain whether quantitative/qualitative CT evaluation characterizes genetically mutated patients.
Purpose. To evaluate CT morphological and dimensional differences in BMAD patients with and without ARMC5/KDM1A pathogenetic variants.
Materials and Methods. Retrospective single-center study of 102 genetically characterized BMAD patients (67 women; median age, 63 years). CT scans were independently analyzed by three reader teams blinded to clinical/genetic data. Genetic testing was used as reference standard for statistics.

背景：双侧大结节性肾上腺疾病（Bilateral macronodular adrenal disease, BMAD）是一类罕见病症，以双侧良性大结节伴不同程度皮质醇增多症为核心特征。ARMC5与KDM1A基因的致病变异是目前公认度最高的遗传病因。但目前仍未明确，定量或定性CT评估能否有效区分携带致病性变异的BMAD患者。
研究目的：评估携带与未携带ARMC5/KDM1A致病变异的BMAD患者之间的CT形态学与影像学维度差异。
材料与方法：本研究为单中心回顾性研究，共纳入102例经基因分型确诊的BMAD患者（其中女性67例，中位年龄63岁）。由3个对临床及基因数据设盲的阅片小组独立完成CT影像分析。本研究以基因检测结果作为统计学分析的参照标准。