儿童库欣病诊治分析(附1例报告并文献复习)  

Diagnostic Analysis of Cushing’s Disease in Children:A Case Report and Literatures Review

作　　者：黄思琪 刘祖霖[1] 张丽娜[1] 侯乐乐[1] 梁立阳[1] 孟哲[1] HUANG Si-qi;LIU Zu-lin;ZHANG Li-na;HOU Le-le;LIANG Li-yang;MENG Zhe(Department of Pediatrics,Sun Yat-sen Memorial Hospital of Sun Yat-sen University,Guangzhou 510000,Guangdong Province,China)

机构地区：[1]中山大学孙逸仙纪念医院儿科,广东广州510000

出　　处：《罕少疾病杂志》2022年第6期9-11,共3页Journal of Rare and Uncommon Diseases

基　　金：金磊儿科内分泌中青年区医师成长科研基金(PEGRF202011003)。

摘　　要：目的通过分析1例经双侧岩下窦静脉取血(BIPSS)确诊的儿童库欣病(CD)的临床诊治过程,提高儿童CD的诊疗水平。方法结合文献分析1例CD男童的临床表现、内分泌激素、影像学、岩下窦取血、手术及术后随访特点。结果患儿因体重增长过快伴生长减速、多毛及颜面部痤疮等就诊,结合血清皮质醇节律、24h UFC、LDDST及血清ACTH结果,诊断为CD,垂体MRI提示垂体微腺瘤可能,但HDDST不被抑制,经BIPSS将病灶定位为左侧垂体微腺瘤,在神经内镜下行经蝶窦手术,病理符合ACTH微腺瘤,术后BMI下降,多毛、痤疮、黑棘皮症状好转,身高实现部分追赶,术后1年肾上腺功能恢复正常,术后2年无复发。结论儿童CD的临床特征与成人患者有差异,通常的诊断方法有一定的假阳性及假阴性率,BIPSS不但可以用于确定病因,还可帮助垂体微腺瘤的术前定位。儿童CD术后须长期随访。Objective To improve the diagnosis and treatment of Cushing’s disease(CD)in children by analyzing the clinical diagnosis process comfirmed by Bilateral inferior petrosal sinus sampling(BIPSS).Methods The clinical manifestations,endocrine hormones,imaging,inferior petrosal sinus sampling,operation and postoperative follow-up of a boy with CD were analyzed.Results The child was diagnosed as CD due to rapid weight gain associated with growth retardation,hirsutism and facial acne.Combined with the results of serum cortisol rhythm,24h UFC,LDDST and serum ACTH level,pituitary MRI suggested the possibility of pituitary microadenoma,but HDDST was not inhibited.The focus was located as left pituitary microadenoma through BIPSS.Transsphenoidal surgery(TSS)was performed under neuroendoscope.The pathology was consistent with ACTH microadenoma.The BMI decreased after operation.The symptoms of hirsutism,acne and acanthosis nigricans were improved.The height was partially caught up.The adrenal function returned to normal in the first year after operation.There was no recurrence in the second year after operation.Conclusion The clinical features of CD in children are different from those in adult patients.The routine diagnostic methods have certain false positive and false negative rates.BIPSS can not only be used to determine the cause,but also help the preoperative localization of pituitary microadenoma.Long-term postoperative follow-up of CD in children is necessary.

关 键 词：儿童库欣病 岩下窦取血 垂体微腺瘤 术后随访 

分 类 号：R725.8[医药卫生—儿科]