伴肾损害儿童自身免疫性多内分泌腺病综合征3例临床病理分析  

Autoimmune polyendocrinopathy syndrome with renal damage in children: a clinicopathological analysis of 3 cases

作　　者：赵三龙[1] 吴红梅[1] 赵非[1] 冯泉城[1] 朱春华[1] 黄松明[1] ZHAO Sanlong;WU Hongmei;ZHAO Fei;FENG Quancheng;ZHU Chunhua;HUANG Songming(Department of Nephrology,Children's Hospital of Nanjing Medical University,Nanjing 210008,Jiangsu,China)

机构地区：[1]南京医科大学附属儿童医院,江苏南京210008

出　　处：《临床儿科杂志》2023年第12期937-941,共5页Journal of Clinical Pediatrics

摘　　要：目的总结3例合并肾损害的儿童自身免疫性多内分泌腺病综合征(APS)的临床资料,以提高对该疾病的认识。方法回顾性分析2018年2月至2023年2月南京医科大学附属儿童医院收治的3例伴肾损害APS患儿的临床及肾活检病理资料。结果3例患儿中女2例、男1例,起病年龄1岁4月~9岁11月,内分泌腺损害均表现为自身免疫性甲状腺疾病伴1型糖尿病,诊断APS 3型。肾损害表现:1例临床表现为急性肾衰竭、肾小管酸中毒I型,病理表现为肾小管间质性肾炎;1例临床表现为溶血尿毒综合征,病理表现为血栓性微血管病;另1例临床表现为轻度肾小管性蛋白尿,病理表现为局灶性肾小管间质损害。3例患儿基因检测均未发现明确致病基因变异。3例患儿中2例予雷帕霉素口服,1例予利妥昔单抗1剂输注,随访1年~2年7月,尿检均恢复正常,肾功能正常。结论APS 3型可伴有肾损害,且临床及肾活检病理呈多样化表现。Objective To summarize the clinical data of 3 children with autoimmune polyendocrinopathy syndrome(APS)with renal impairment,so as to improve the understanding of the disease.Methods The clinical and renal biopsy pathological data of 3 children with APS complicated with renal damage hospitalized in the Kidney Department of Children's Hospital Affiliated to Nanjing Medical University from February 2018 to February 2023 were retrospectively analyzed.Results Among the 3 patients,2 were girls and 1 was a boy.The onset age ranged from 1 year and 4 months to 9 years and 11 months.All children with endocrine gland damage presented with autoimmune thyroid disease with type 1 diabetes and were diagnosed with APS type 3.The clinical manifestation of 1 patient was acute renal failure,renal tubular acidosis typeⅠ,and pathological manifestation was tubulointerstitial nephritis.One patient showed hemolytic uremic syndrome,and the renal pathology manifested as thrombotic microangiopathy.One patient had mild tubular proteinuria clinically,and the pathology showed focal tubulointerstitial nephritis.No definite pathogenic gene variation was found in 3 patients.Two patients received oral rapamycin and 1 received a 1-dose infusion of rituximab.After a follow-up from 1 year to 2 years and 7 months,all patients showed normal urinalysis and normal renal function.Conclusions APS type 3 can be associated with renal damage,and its clinical manifestations and renal biopsy pathology are diversified.

关 键 词：自身免疫性多内分泌腺病综合征 肾损害 病理 儿童 

分 类 号：R726.9[医药卫生—儿科]