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New combined CFH/MCP mutations and a rare clinical course in atypical haemolytic uraemic syndrome
Atypical haemolytic uraemic syndrome (aHUS) is a rare, life-threatening, chronic, genetic disease due to uncontrolled alternative pathway complement activation. In this report, we discuss the case of a heterozygous carrier of a mutation on both factor H and membrane cofactor protein, who persistentl...
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| Veröffentlicht in: | Clin Kidney J |
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| Hauptverfasser: | , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Oxford University Press
2015
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4655804/ https://ncbi.nlm.nih.gov/pubmed/26613026 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/ckj/sfv102 |
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