目的 探讨分析原发性色素沉着性结节性肾上腺皮质病(primary pigmented nodular adrenocortical disease,PPNAD)的临床特征、辅助检查结果及治疗方法,以增强对该病的认识. 方法 采用回顾性分析,对本科收治的2例患者及国内报道的23例患者从性别比例、发病年龄、临床特征、实验室检查、影像学特征及治疗方法进行综合分析. 结果 25例患者中男性9例,女性16例,确诊年龄11-53岁,年龄在40岁以上者仅1例.23例有典型库欣表现,伴Carney综合征者12例,12例肾上腺CT表现为结节样增粗,13例无异常改变.肾上腺病理可见色素沉积的结节样改变.双侧肾上腺切除后予激素替代是本病有效治疗方法. 结论 对影像学检查无明显异常改变的非ACTH依赖性库欣综合征患者,尤其是青少年患者,要常规将PPNAD列入鉴别诊断.双侧肾上腺切除后予激素替代治疗是本病的最佳治疗方法,术后应密切随访.%Objective To investigate the clinical features,results of assisted examination and treatment of primary pigmented nodular adrenocortical disease (PPNAD) for enhancing the insights of this disease. Methods Two patients in our hospital were reported. Combined with the clinical data of 23 cases of PPNAD which had been reported in China,the sex ratio of patients,age of onset,clinical features,laboratory examination,imaging characteristics and treatment were retrospectively analyzed. Results In total 25 cases,9 male and 16 female,the diagnose age was 11-53 years old,and only one was above 40 years old. All cases had typical Cushing appearance, of which, 12 cases were accompanied with Carney syndrome. 12 cases with adrenal cortical nodule thickening, and 13 cases showed no abnormality. Adrenal pathologic analysis revealed numerous cortical nodules containing lipofuscin pigmentation. Conclusion PPNAD is a rare subtype of ACTH-independent Cushing' s syndrome(CS) ,and its diagnosis depends on symptom,endocrinal and pathology. Bilateral adrenalectomy is the best treatment.
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