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

  • Published on 01/31/2025
  •  Reading time: 6 min.

Chunyan Wang 1 ,2  na1, Jing Chen 1 ,2  na1, Hong Xu   1 ,2 ,3  

1 Department of Nephrology, Children’s Hospital of Fudan University, National Children’s Medical Center, Shanghai, 201102, China
2 Shanghai Kidney Development & Pediatric Kidney Disease Research Center, Shanghai, China
3 National Key Laboratory of Kidney Diseases, Beijing, China

Abstract

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. Related literature on aHUS combined with PLE...

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