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中华腔镜泌尿外科杂志(电子版) ›› 2025, Vol. 19 ›› Issue (03) : 384 -389. doi: 10.3877/cma.j.issn.1674-3253.2025.03.017

所属专题: 经典病例

MDT 精选病例

广东省医学会泌尿外科疑难病例多学科会诊(第22期)——ACTH非依赖性双侧肾上腺增生
黄展森1, 徐锦斌1, 黄群雄1, 李腾成1, 狄金明1,()   
  1. 1. 510630 广州,中山大学附属第三医院泌尿外科
  • 收稿日期:2025-04-03 出版日期:2025-06-01
  • 通信作者: 狄金明
  • 基金资助:
    广东省自然科学基金(2021A1515012322)

Multidisciplinary consultation on difficult cases in Guangdong Urological Association (Phase 22): ACTH-independent bilateral adrenal hyperplasia

Zhansen Huang1, Jinbin Xu1, Qunxiong Huang1, Tengcheng Li1, Jinming Di1,()   

  1. 1. Department of Urology, the Third Affiliated Hospital of Sun Yat-sen University, Guangzhou 510630, China
  • Received:2025-04-03 Published:2025-06-01
  • Corresponding author: Jinming Di
引用本文:

黄展森, 徐锦斌, 黄群雄, 李腾成, 狄金明. 广东省医学会泌尿外科疑难病例多学科会诊(第22期)——ACTH非依赖性双侧肾上腺增生[J/OL]. 中华腔镜泌尿外科杂志(电子版), 2025, 19(03): 384-389.

Zhansen Huang, Jinbin Xu, Qunxiong Huang, Tengcheng Li, Jinming Di. Multidisciplinary consultation on difficult cases in Guangdong Urological Association (Phase 22): ACTH-independent bilateral adrenal hyperplasia[J/OL]. Chinese Journal of Endourology(Electronic Edition), 2025, 19(03): 384-389.

本文报道一例复杂儿童肾上腺皮质增生病例。患儿男,5 岁,因“咳嗽、发热伴抽搐”入院,查体示典型库欣样体征:满月脸、皮肤粗糙、颜面多毛,血压高达149/99 mmHg。实验室检查提示严重电解质紊乱、皮质醇显著升高。影像学显示双侧肾上腺弥漫增粗伴左侧结节。经广东省医学会泌尿外科疑难病例学科会诊(MDT),儿科专家排除原发性醛固酮增多症,放射科专家明确肾上腺增生合并腺瘤特征,泌尿外科专家强调手术的必要性、术中需动脉血压监测及术后皮质醇替代治疗。根据MDT 讨论意见,进一步行全外显子测序发现19p13.2~p13.11 区3.6 Mb 拷贝数重复,涵盖PRKACA 等关键基因,符合PPNAD4 分子特征。告知患方MDT 讨论意见,经充分沟通并取得知情同意后,行经腹腹腔镜左肾上腺切除,术后病理确诊皮质腺瘤。术后血压控制可,降压药用量有所减少,皮质醇2 周内恢复正常。本案例提示:染色体19p 拷贝数变异通过PRKACA 基因组成性激活导致ACTH非依赖性库欣综合征;儿童肾上腺手术需个体化选择术式(优先切除严重侧),并警惕术后肾上腺危象;多模态评估(基因-影像-病理)对复杂双侧肾上腺增生诊疗具有核心价值。

This article reports a case of complex pediatric adrenal cortical hyperplasia.The patient was a 5-year-old boy admitted for "cough, fever, and convulsions." Physical examination revealed typical Cushingoid signs: moon face, rough skin, facial hirsutism, and a high blood pressure of 149/99 mmHg.Laboratory tests indicated severe electrolyte disorders and significantly elevated cortisol levels.Imaging showed diffuse enlargement of both adrenal glands with a nodule on the left side.Through Multidisciplinary consultation on difficult cases in Guangdong Urological Association, pediatric experts ruled out primary aldosteronism, radiology experts confirmed the characteristics of adrenal hyperplasia with adenoma,and urological surgery experts emphasized the necessity of surgery, intraoperative arterial blood pressure monitoring, and postoperative cortisol replacement therapy.Based on the discussion, whole-exome sequencing was performed, revealing a 3.6 Mb copy number duplication in the 19p13.2-p13.11 region, involving key genes such as PRKACA, consistent with the molecular features of PPNAD4.After fully informing the patient's family about the discussion and obtaining informed consent, a transabdominal laparoscopic left adrenalectomy was performed.Postoperative pathology confirmed a cortical adenoma.Postoperatively, blood pressure was controlled with a reduced dosage of antihypertensive drugs, and cortisol levels returned to normal within two weeks.This case suggests that copy number variations in chromosome 19p lead to ACTH-independent Cushing's syndrome through the constitutive activation of the PRKACA gene.Pediatric adrenal surgery requires individualized selection of the surgical approach (prioritizing the more severely affected side), and caution is needed to prevent postoperative adrenal crisis.Multimodal evaluation (genetic, imaging, and pathological) is of core value in the diagnosis and treatment of complex bilateral adrenal hyperplasia.

图1 患儿满月脸表现 图2 患儿腹部CT 检查图像 视频1 患儿影像学检查结果 注:箭头示双侧肾上腺增生
图3 双侧肾上腺增生患儿全外显子组测序结果
图4 双侧肾上腺增生患儿行经腹途径腹腔镜下左侧肾上腺切除术中情况 注:a 为术中右侧卧体位,b 为切除的左侧肾上腺
图5 (左侧肾上腺)术后病理示符合肾上腺皮质腺瘤 注:图5 均为HE 染色,a 为3D 扫描仪10×,b 为20×,c 为40×,d 为20×
图6 双侧肾上腺增生患儿血浆皮质醇变化情况
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