Information on aHUS1b
Basic details
Name: Hemolytic-uremic syndrome, atypical, susceptibility to, 1 | Acronym: aHUS1b
Alt. names: hemolytic-uremic syndrome
Gene: CFHR1 | MOI: Autosomal inheritance | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2007
Last updated on: 2023-05-17 17:25:50 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). Deletions related to hemolytic-uremic syndrome involve a contiguous deletion with CFHR1. Refs. PMIDs: 98489; 17367211; 18006700; 19435718; 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 |
|---|
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Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
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