Information on aHUS4
Basic details
Name: Hemolytic uremic syndrome, atypical, susceptibility to, 4 | Acronym: aHUS4
Alt. names: Factor B GOF
Gene: CFB | MOI: Autosomal dominant | Mechanism of action: Gain of Function
No. of cases in DB: 0 | First reported in: 2007
Last updated on: 2023-02-28 16:41:18 by
Description
In hemolytic-uremic syndrome, the choice of specific treatment modalities (eg, danazol, plasma exchange, plasma therapy), as well as decision to perform renal transplant, may be dictated by genetic diagnosis, and certain agents/precipitating factors should be avoided (eg, certain medications); In Complement factor B deficiency, individuals may manifest with severe and recurrent infections due to encapsulated bacteria, and antiinfectious prophylaxis and early and aggressive treatment of infections may be beneficial. Refs. PMIDs: 6903190; 6898304; 7452889; 16518403; 16936732; 17182750; 20301541; 24152280
Management
Description of management option has not been reviewed yet.
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0 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|
AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical term | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Hemolytic-uremic syndrome |
9 (75.0%) | 0 (0.0%) | 3 (25.0%) |
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.
Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.