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[Atypical hemolytic uremic syndrome with C3 p.I1157T missense mutation successfully treated with eculizumab].
- Source :
-
[Rinsho ketsueki] The Japanese journal of clinical hematology [Rinsho Ketsueki] 2018; Vol. 59 (2), pp. 178-181. - Publication Year :
- 2018
-
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.
- Subjects :
- Atypical Hemolytic Uremic Syndrome epidemiology
Humans
Japan epidemiology
Male
Treatment Outcome
Young Adult
Antibodies, Monoclonal, Humanized therapeutic use
Atypical Hemolytic Uremic Syndrome drug therapy
Atypical Hemolytic Uremic Syndrome genetics
Complement C3 genetics
Mutation, Missense
Subjects
Details
- Language :
- Japanese
- ISSN :
- 0485-1439
- Volume :
- 59
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- [Rinsho ketsueki] The Japanese journal of clinical hematology
- Publication Type :
- Academic Journal
- Accession number :
- 29515070
- Full Text :
- https://doi.org/10.11406/rinketsu.59.178