Information on Hemolytic uremic syndrome, atypical, susceptibility to, 2
Basic details
Name: Hemolytic uremic syndrome, atypical, susceptibility to, 2 | Acronym:
Alt. names:
Gene: CD46 | MOI: Autosomal inheritance | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2003
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), though treatment with plasma infusion was not reported to result in improved disease resolution in individuals with MCP mutations. Digenic inheritance (with CFH) has been reported. Refs. PMIDs: 14615110; 14566051; 15661753; 16621965; 16762990; 16386793; 17617869; 16882452; 20595690; 20301541
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 | Acute kidney failure |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Hemolytic-uremic syndrome |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Microangiopathic hemolytic anemia |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Childhood onset |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 5 | Decreased serum complement C3 |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 6 | Juvenile onset |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
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Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
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