中国循证儿科杂志2017，Vol.12Issue(1)：54-59,6.DOI:10.3969/j.issn.1673-5501.2017.01.011
非典型溶血尿毒综合征患儿14例临床表型与基因型分析
Analysis of genotype-phenotype correlation in 14 patients with atypical hemolytic uremic syndrome
王春燕 1沈茜 1孙利 2李国民 2吴冰冰 3徐虹1
作者信息
- 1. 复旦大学附属儿科医院 肾脏科 上海市肾脏发育和儿童肾脏病研究中心 上海,201102
- 2. 复旦大学附属儿科医院 风湿科 上海,201102
- 3. 复旦大学附属儿科医院 转化医学中心 上海,201102
- 折叠
摘要
Abstract
Objective To investigate the relationship between the genotype and long-term progress in atypical hemolytic uremic syndrome.Methods Patients diagnosed with thrombotic microangiopathy were included and examined for ADAMTS13 activity.The patients whose ADAMTS13 activity was above 10％ were screened for mutations in 267 kidney disease related genes using next generation sequencing.The mutations were confirmed using the Sanger sequencing.The patients were grouped according to their genetic characteristics and compared for the long-term progress.The literatures of aHUS genotype-phenotype were reviewed.Results Fourteen patients were included in our study,Other organs were involved in 5 patients.9 of 14 patients (64.3％) were reported with at least one mutation.Heterozygous mutations were found in 3 cases and one case in CFH and CFI genes respectively.One patien was identified with homozygous mutation on MCP,one patient with homozygous mutation on CFHR1,one with exon 3-5 deletion of the CFHR1,one with combined mutation of C3 and CFB,one with combined CFH exon 20 duplication and exon 4 deletion of CFHR1.Three novel mutations were identified,C3 (c.21G ＞ A),CFH (IVS8 + 4A ＞ G) and CFI (c.772 + 1G ＞ T).Comparing the clinical features of mutation carriers and non-carriers,the mutation carrier's kidneys involved the eGFR (mL · min-1 · 1.73 m-2) were 28.8 and 21.2,respectively,low C3 was found in 4 patients and 3 patients,respectively.During the followup for 1-67 months,clinical outcomes varied in mutation-carrier patients,one died during the acute stage and 3 patients progressed to end stage renal disease.Of 3 ESRD patients,one had received renal transplant,2 experienced recurrence and one died.There were no patient died or progressed to end stage renal disease in mutation non-carrier patients.In literatures,children patients were reported to has a high proportion in trigger events and other organs involvement,Conclusion CFH mutations lead to poor longterm progression in aHUS patients and Other organs are more easily involved in children.关键词
非典型溶血尿毒综合征/儿童/临床表型/基因Key words
Atypical hemolytic uremic syndrome/Children/Phenotype/Gene引用本文复制引用
王春燕,沈茜,孙利,李国民,吴冰冰,徐虹..非典型溶血尿毒综合征患儿14例临床表型与基因型分析[J].中国循证儿科杂志,2017,12(1):54-59,6.
