摘要
目的分析儿童非典型溶血尿毒综合征(atypical hemolytic uremic syndrome,aHUS)的临床特点,为我国aHUS患儿的诊治提供临床经验。方法该研究为单中心回顾性研究,纳入2017年12月31日至2023年10月15日于南京医科大学附属儿童医院就诊的临床资料完整的15例aHUS患儿,分析其实验室检查、基因检测及临床表现等临床特点,并根据基因及补体因子H(complement factor H,CFH)抗体检测结果分组分析相应临床特点。结果15例患儿中,男性8例,女性7例,发病年龄为5.1(0.7,10.8)岁。所有患儿均行基因检测,aHUS相关基因突变比例为9/15,补体因子相关基因新发突变2例。11例患儿检测了CFH抗体,CFH抗体阳性比例为6/11。14例患儿检测了C3,C3下降9例。实验室检查中,血小板计数及血红蛋白均明显降低,红细胞计数下降13例,估算肾小球滤过率降低14例,血尿素氮升高13例,血清肌酐升高9例,转氨酶升高12例,乳酸脱氢酶升高14例。临床表现方面,有发病前诱因11例,有明确相关家族史4例,表现为贫血、血小板减少、蛋白尿及血尿15例。除丙氨酸转氨酶、天冬氨酸转氨酶、血清肌酐和补体C3(均P>0.05)外,红细胞计数(Z=-2.84,P=0.005)、血小板计数(Z=-6.65,P<0.001)、血红蛋白(t=-3.71,P=0.002)、乳酸脱氢酶(Z=3.76,P=0.002)、血尿素氮(Z=2.71,P=0.017)及估算肾小球滤过率(Z=-3.65,P=0.003)治疗前后差异均有统计学意义。aHUS相关基因突变组与未突变组及CFH抗体阳性组与阴性组入院时的发病年龄、红细胞计数、血小板计数、血红蛋白、乳酸脱氢酶、丙氨酸转氨酶、天冬氨酸转氨酶、血清肌酐、血尿素氮、估算肾小球滤过率及补体C3的差异均无统计学意义(均P>0.05)。结论aHUS起病时病情重,临床表现异质性大。遗传性aHUS与获得性aHUS入院时的临床表现无明显差异,基因及补体因子检测对于aHUS病因诊断至关重要,家族史对aHUS诊断可起辅助作用。
Objective To analyze the clinical characteristics of pediatric atypical hemolytic uremic syndrome(aHUS),and provide clinical experience for the diagnosis and treatment of aHUS in China.Methods It was a single-center retrospective study.Fifteen aHUS children treated and having complete clinical data at Children's Hospital of Nanjing Medical University between December 31,2017 and October 15,2023 were enrolled to analyze the clinical features covering laboratory examinations,genetic testing results,and clinical manifestations.The children were classified based on genetic testing and complement factor H(CFH)antibody detection results to analyze the corresponding clinical characteristics.Results Among the 15 aHUS patients.There were 8 males and 7 females.The onset age was 5.1(0.7,10.8)years old.All patients underwent genetic testing,with 9/15 of aHUS-related gene mutation,revealing 2 de novo mutations in complement factors-related genes.Among 11 patients screened for CFH antibody,6 tested positive.C3 was detected in 14 patients,and C3 decreased in 9 patients.In laboratory examinations,there were notable decreases in red blood cell(RBC)count in 13 patients,platelet(PLT)count in 15 patients,hemoglobin(Hb)in 15 patients and estimated glomerular filtration rate(eGFR)in 14 patients.Blood urea nitrogen(BUN)and serum creatinine(Scr)were markedly elevated in 13 patients and 9 patients,respectively.Twelve patients exhibited elevated transaminase levels,and 14 patients exhibited elevated lactate dehydrogenase(LDH)levels.Clinically,11 patients had triggers,and 4 patients had clear family histories.Common clinical features including anemia,thrombocytopenia,proteinuria and hematuria were in 15 patients.There were statistically significant differences in RBC count(Z=-2.84,P=0.005),PLT count(Z=-6.65,P<0.001),Hb(t=-3.71,P=0.002),LDH(Z=3.76,P=0.002),BUN(Z=2.71,P=0.017),and eGFR(Z=-3.65,P=0.003)before and after treatment except alanine transaminase,aspartate transaminase,Scr and complement C3(all P>0.05).There were no significant differences in onset age,RBC count,PLT count,Hb,LDH,alanine transaminase,aspartate transaminase,Scr,BUN,eGFR,and C3 between aHUS-related gene mutation and non-mutation groups,and CFH antibody-positive and negative groups(all P>0.05).Conclusions aHUS is marked by severity,and has diverse clinical manifestations.There are no significant differences in clinical presentation at admission between hereditary and acquired aHUS,highlighting the critical importance of genetic testing and complement-related factor detection in diagnosing aHUS etiology.The family history plays a supportive role in diagnosis of aHUS.
作者
李浩淼
韩媛
朱春华
陈秋霞
赵三龙
赵非
丁桂霞
Li Haomiao;Han Yuan;Zhu Chunhua;Chen Qiuxia;Zhao Sanlong;Zhao Fei;Ding Guixia(Department of Nephrology,Children's Hospital of Nanjing Medical University,Nanjing 210008,China)
出处
《中华肾脏病杂志》
CAS
CSCD
北大核心
2024年第5期367-378,共12页
Chinese Journal of Nephrology
基金
国家自然科学基金(82070688)
2019年南京市卫生科技发展专项资金(ZKX19040)。
关键词
儿童
非典型溶血尿毒综合征
基因
补体因子
Child
Atypical hemolytic uremic syndrome
Genes
Complement factors
