[Atypical hemolytic uremic syndrome with C3 p.I1157T missense mutation successfully treated with eculizumab].
Rinsho Ketsueki
; 59(2): 178-181, 2018.
Article
en Ja
| MEDLINE
| ID: mdl-29515070
ABSTRACT
A 23-year-old man from Mie Prefecture, Japan, with past and family history of hematuria was diagnosed with influenza A and admitted to our hospital on the following day because of hemoglobinuria. He was diagnosed with thrombotic microangiopathy and was suspected of having atypical hemolytic uremic syndrome (aHUS). C3 p.I1157T missense mutation, which we had previously reported in eight aHUS patients from six families in Mie Prefecture, was identified. The laboratory findings and symptoms of our patient promptly improved after administering eculizumab. Little information is available on abnormalities of the complement system in aHUS or on mutation-specific outcomes of eculizumab therapy. Eculizumab was effective for treating our aHUS patient with C3 p.I1157T missense mutation.
Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Complemento C3
/
Mutación Missense
/
Anticuerpos Monoclonales Humanizados
/
Síndrome Hemolítico Urémico Atípico
Tipo de estudio:
Prognostic_studies
Límite:
Adult
/
Humans
/
Male
País/Región como asunto:
Asia
Idioma:
Ja
Revista:
Rinsho Ketsueki
Año:
2018
Tipo del documento:
Article