以局灶节段硬化性肾小球肾炎为病理特点的Donnai-Barrow综合征1例并文献复习  

Donnai Barrow Syndrome with Focal Segmental Sclerosing Glomerulonephritis:A Case Report and Literature Review

作　　者：马岩 刘静[2] 罗丹 杨星星 韦性娇 梁丽俊[2] MA Yan;LIU Jing;LUO Dan;YANG Xing-xing;WEI Xing-jiao;LIANG Li-jun(Clinical Medicine School of Ningxia Medical University,Yinchuan 750004,Ningxia Hui Autonomous Region,China;Department of Pediatrics,General Hospital of Ningxia Medical University,Yinchuan 750000,Ningxia Hui Autonomous Region,China)

机构地区：[1]宁夏医科大学临床医学院,宁夏银川750004 [2]宁夏医科大学总医院儿科,宁夏银川750000

出　　处：《罕少疾病杂志》2024年第4期1-3,6,共4页Journal of Rare and Uncommon Diseases

基　　金：宁夏回族自治区重点研发计划2022BEG03119。

摘　　要：目的探讨儿童Donnai-Barrow综合征(Donnai Barrow syndrome,DBS)患者的临床特点及病理类型。方法回顾性分析2022年4月就诊于宁夏医科大学总医院儿科的1例Donnai-Barrow综合征患儿的临床资料,并分别以“Donnai Barrow”、“FOAR”为检索词检索中国知网、万方数据库、PubMed数据库自建库至2022年5月的相关文献。结合本病例及其他已报道的受累者,总结DBS的临床特点、诊疗经过及可能预后。结果患儿,女,13岁11月,因“发现蛋白尿13年余”就诊于宁夏医科大学总医院儿科,完善基因检测后确诊为DBS,结合肾活检病理结果诊断为“慢性肾小球肾炎局灶节段硬化性肾小球肾炎(NOS型)”。总结目前已报道的74例DBS患者中有36.49%的受累者存在蛋白尿,其中3例完善肾脏穿刺后病理结果提示肾小球硬化。结论绝大多数DBS患者主要肾脏异常表现为蛋白尿,尽早完善肾穿刺活检对于明确DBS肾脏损害性质,提早预防肾衰竭、避免相关并发症具有指导意义。Objective To explore the clinical characteristics and pathological types of children with Donnai Barrow syndrome(Donnai Barrow syndrome,DBS)Method:A retrospective analysis was conducted on the clinical data of a pediatric patient with Donnai Barrow syndrome who visited the Department of Pediatrics at Ningxia Medical University General Hospital in April 2022.Relevant literature from China National Knowledge Infrastructure(CNKI),Wanfang Database,and PubMed Database were searched using the keywords"Donnai Barrow"and"FOAR"until May 2022.Based on this case and other reported affected individuals,summarize the clinical characteristics,diagnosis and treatment process,and possible prognosis of DBS.The patient,a 13 year old and 11 month old woman,was diagnosed with DBS at the Pediatrics Department of Ningxia Medical University General Hospital due to the discovery of proteinuria for over 13 years.After completing genetic testing,the diagnosis was confirmed,and combined with renal biopsy pathological results,the diagnosis was"chronic glomerulonephritis focal segmental sclerosis glomerulonephritis(NOS type)".Summary:Currently,36.49% of the 74 reported DBS patients have proteinuria,among which 3 patients showed glomerulosclerosis after complete renal biopsy.Conclusion:The majority of DBS patients have proteinuria as the main renal abnormality.Improving renal biopsy as soon as possible is of guiding significance for clarifying the nature of renal damage in DBS,preventing renal failure early,and avoiding related complications.

关 键 词：Donnai-Barrow综合征 局灶节段硬化性肾小球肾炎 儿童 

分 类 号：R725.9[医药卫生—儿科]