Evidence map›Paper›PMID 40478487›Full record

ArticlePediatric nephrology (Berlin, Germany)2025

Comprehensive genetic analysis and genotype-phenotype correlations in pediatric patients with atypical hemolytic uremic syndrome.

Jie Ni, Zhi Chen, Chen Ling, Nan Zhou, Yue Xi, Dan Wu, Hejia Zhang, Xiaorong Liu

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Article in Pediatric nephrology (Berlin, Germany), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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5 · Who and what money

Authors and funding

8 authors.

Jie NiDepartment of Nephrology, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, Beijing, 100045, China.
Zhi ChenDepartment of Nephrology, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, Beijing, 100045, China.
Chen LingDepartment of Nephrology, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, Beijing, 100045, China.
Nan ZhouDepartment of Nephrology, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, Beijing, 100045, China.
Yue XiDepartment of Nephrology, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, Beijing, 100045, China.
Dan WuDepartment of Nephrology, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, Beijing, 100045, China.
Hejia ZhangDepartment of Nephrology, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, Beijing, 100045, China.
Xiaorong LiuDepartment of Nephrology, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, Beijing, 100045, China. lxrbch@sina.com.

Funding

Capital Health Research and Development of Special Fund 2016-2-2094Key Research and Development Program 2022YFC2705101Research on the Application of Capital Clinical the Research on the Application of Capital Clinical Characteristics Program of Beijing Municipal Science and Technology Commission Z161100000516106
6 · The paper itself

Abstract

backgroundAtypical hemolytic uremic syndrome (aHUS) is a rare disease caused by the dysregulation of the alternative pathway. The objective of this study was to evaluate the genetic background and genotype-phenotype correlations in pediatric patients with aHUS.

methodsThis retrospective study enrolled 116 pediatric patients from 2013 to 2023 in China. Here, we screened rare and common variants of atypical hemolytic uremic syndrome predisposing genes, as well as reported the clinical characteristics and extrarenal manifestations.

resultsGenetic mutations were identified in 20% of patients. Factor H autoantibodies were detected in 53% of patients, with a homozygous CFHR1 deletion observed in 50% of them. The variant of CFHR5 p.V170M (7% vs. 0, P = 0.009, adjusted P-value = 0.036) was enriched in aHUS patients. No significant difference in the frequencies of CFH-H3 and CD46ggaac at-risk haplotypes was observed between aHUS patients and healthy controls. CFH was the most common mutation and was associated with the poorest prognosis, with a 1-year kidney survival rate of 45% after disease onset in the absence of complement blockade. Among patients with factor H autoantibodies, those with a homozygous CFHR1 deletion exhibited a significantly higher relapse rate.

conclusionsChinese children with aHUS present a low proportion of genetic mutations. Kidney outcomes significantly differ according to genetic backgrounds in the pre-complement blockade era. Homozygous CFHR1 homozygous deletion increases the risk of relapse in patients with factor H autoantibodies.

Indexed as

Atypical Hemolytic Uremic SyndromeBlood ProteinsAdolescentAutoantibodiesChildChild, PreschoolChinaComplement C3b Inactivator ProteinsComplement Factor HComplement System ProteinsFemaleGenetic Association StudiesGenetic Predisposition to DiseaseHumansInfantMaleAutoantibodiesBlood ProteinsCFH protein, humanCFHR1 protein, humanCFHR5 protein, humanComplement C3b Inactivator ProteinsComplement Factor HComplement System ProteinsAtypical hemolytic uremic syndromeGenetic backgroundGenotype–phenotype correlationsHomozygous CFHR1 deletion

Identifiers

PMID40478487

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