Protein-losing enteropathy as a new phenotype in atypical hemolytic uremic syndrome caused by CD46 gene mutation and recovery from chronic kidney failure by eculizumab treatment
Chunyan Wang,
Jing Chen,
Xinli Han
et al.
Abstract:Background: Atypical hemolytic uremic syndrome (aHUS) is a life-threatening thrombotic microangiopathies. Genetic defects in complement alternative pathway have been identified in 60-70% of aHUS individuals. Eculizumab is recommended as first-line therapy.
Methods: We collected clinical data of a pediatric aHUS case, who accompanied with protein-losing enteropathy (PLE). Genetic testing was performed. Related literatures of aHUS combined with PLE were reviewed.
Results: A 15-year-old Chinese girl was diagnosed… Show more
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