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Article

Protein-losing enteropathy as a new phenotype in atypical hemolytic uremic syndrome caused by CD46 gene mutation.

Pediatric nephrology (Berlin, Germany) - 1 Dec 2024

Wang Chunyan, Chen Jing, Han Xinli, Sun Manqing, Fang Xiaoyan, Zhai Yihui, Miao Qianfan, Zhang Zhiqing, Tang Xiaoshan, Liu Jiaojiao, Shen Qian, Xu Hong

Abstract excerpt

BACKGROUND: Atypical hemolytic uremic syndrome (aHUS) is a life-threatening thrombotic microangiopathy. Genetic defects in the alternative complement (AP) pathway have been identified in 60-70% of individuals. Eculizumab is recommended as a first-line therapy. METHODS: We collected the clinical data of a pediatric patient with aHUS accompanied by protein-losing enteropathy (PLE). Genetic testing was performed....

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Share to Adolescent
Share to Antibodies, Monoclonal, Humanized

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Atypical Hemolytic Uremic Syndrome

Share to Kidney Failure, Chronic

Share to Membrane Cofactor Protein

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Source

Identifiers

PMID: 39097532
DOI: 10.1007/s00467-024-06451-0

Genes

CD46
CD55

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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