[Atypical hemolytic uremic syndrome with C3 p.I1157T missense mutation successfully treated with eculizumab].
Rinsho Ketsueki
; 59(2): 178-181, 2018.
Article
in 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.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Complement C3
/
Mutation, Missense
/
Antibodies, Monoclonal, Humanized
/
Atypical Hemolytic Uremic Syndrome
Type of study:
Prognostic_studies
Limits:
Adult
/
Humans
/
Male
Country/Region as subject:
Asia
Language:
Ja
Journal:
Rinsho Ketsueki
Year:
2018
Document type:
Article