Novel complement factor H gene mutation causing atypical haemolytic uraemic syndrome: early Eculizumab prevents acute dialysis

We describe the clinical course and response to treatment of atypical haemolytic uraemic syndrome (aHUS) in two sisters presenting to our hospital 6 years apart with a novel complement factor H mutation that has not been described previously in literature and demonstrates the genetic complexity of t...

Descripción completa

Detalles Bibliográficos
Autores principales: Collett, James, Mallawaarachchi, Amali, Fischer, Eddy, Komala, Muralikrishna Gangadharan, Sud, Kamal, Bose, Bhadran
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2017
Materias:
Rare Diseases
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5518413/
https://www.ncbi.nlm.nih.gov/pubmed/28744369
http://dx.doi.org/10.1093/ckj/sfw132

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5518413/
https://www.ncbi.nlm.nih.gov/pubmed/28744369
http://dx.doi.org/10.1093/ckj/sfw132

Ejemplares similares