原发性色素沉着性结节性肾上腺皮质病1例报道及文献回顾

Primary pigmented nodular adrenocortical disease:A case report and a review of literatures

目的:分析探索原发性色素沉着性结节性肾上腺皮质病(primary pigmented nodular adrenocortical disease,PPNAD)的临床表现、实验室检查特点、辅助检查特征及诊疗方案。方法:对空军军医大学第一附属医院泌尿外科收治的1例PPNAD患者的临床资料及国内文献所报道的46例患者临床资料进行回顾性分析。46例患者中男性16例,女性30例;其中44例表现为典型库欣综合征体貌,2例仅表现为高血压;伴Carney综合征(Carney complex,CNC)者16例,2例有甲状腺占位;疾病确诊年龄为11~58岁。实验室检查证实患者均具备促肾上腺皮质激素(adrenocorticotropic hormone,ACTH)非依赖性特征,大、小剂量地塞米松抑制试验均不被抑制者45例,1例被抑制,16例患者服用地塞米松后尿游离皮质醇(urinary free cortisol,UFC)升高。影像学完善头部MRI检查者发现垂体占位性病变者2例,无病变者20例,肾上腺CT检查可有双侧肾上腺多发结节或增粗、单侧肾上腺结节或肿物、单侧肾上腺增粗或未见明显变化等表现。治疗方式有腹腔镜下双侧肾上腺全切术、单侧肾上腺肿物切除术及单侧肾上腺全切术。结果:双侧肾上腺切除术联合术后终身激素替代治疗疗效确切,无复发;肾上腺次全切除术和单侧肾上腺切除术后无需激素替代治疗,但存在一定的复发风险。结论:PPNAD临床罕见,确诊主要依据病理检查,对于影像学检查阳性的非依赖性ACTH患者应高度怀疑本病。腹腔镜下双侧肾上腺切除联合术后激素替代治疗是目前治疗PPNAD的合理方案,具体术式应根据患者自身情况拟定。

Objective:To analyze the clinical symptoms,characteristics of laboratory tests,features of auxiliary examinations,diagnosis and treatment plans of primary pigmented nodular adrenocortical disease(PPNAD).Methods:A retrospective analysis of the clinical data of one patient with PPNAD admitted to the Department of Urology of Air Force Medical University and the clinical data of 46 patients reported in domestic literature was conducted.There were 16 males and 30 females in 46 patients.Among them,44 cases showed the appearance of typical Cushing syndrome,2 cases only showed hypertension,16 cases with Carney complex,and 2 cases with thyroid occupancy.The age of diagnosis was 11 to 58 years old.Laboratory tests confirmed that all patients had adrenocorticotropic hormone(ACTH)-independent characteristics.The large and small doses of dexamethasone suppression test were not inhibited in 45 cases,and 1 case was inhibited.UFC increased in 16 patients taking dexamethasone.Imaging head MRI revealed 2 cases of pituitary space occupying lesions and 20 cases without lesions.CT examination of the adrenal may have multiple bilateral adrenal nodules or thickening,unilateral adrenal nodules or tumors,unilateral adrenal thickening or no significant changes in performance.Treatments included laparoscopic bilateral adrenalectomy,unilateral adrenaltumorectomyand unilateral adrenalectomy.Results:Bilateral adrenalectomy combined with postoperative lifelong hormone replacement therapy was effective,with no recurrence.No hormone replacement therapy was required after unilateral adrenalectomy or subtotal resection,but there was a certain risk of recurrence.Conclusion:PPNAD is rare in clinical.The diagnosis is mainly based on pathological examination.Patients with non-dependent ACTH who are negative in imaging examination should be highly suspected of this disease.Laparoscopic bilateral adrenalectomy combined with postoperative hormone replacement therapy is a reasonable method for the treatment of PPNAD.Specific surgical procedures should be based on the patient's own situation.