Information on aHUS6
Basic details
Name: Hemolytic uremic syndrome, atypical, susceptibility to, 6 | Acronym: aHUS6
Alt. names:
Gene: THBD | MOI: Autosomal dominant | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2009
Last updated on: 2023-02-28 16:41:18 by
Description
In Thrombophilia due to thrombomodulin defect, surveillance, preventive measures, and treatment of thrombophilia may reduce morbidity; 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). The evidence for the causality of the reported variants as relates to thrombophilia is unclear. Refs. PMIDs: 7811989; 9843165; 10460600; 11552992; 12139752; 11986219; 19625716; 20301541; 20595690; 22036808
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 |
7 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Decreased serum complement C3 |
3 (42.9%) | 0 (0.0%) | 4 (57.1%) |
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Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
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