Atypical Hemolytic Uremic Syndrome (p.Gly1110Ala) with Autoimmune Disease.
Am J Case Rep
; 21: e922567, 2020 May 03.
Article
in En
| MEDLINE
| ID: mdl-32361709
BACKGROUND Hemolytic uremic syndrome (HUS) can be categorized as primary (typical or atypical) or secondary (with a coexisting diseases). Typical HUS usually means shiga-toxin-medicated and thrombotic thrombocytopenic purpura. Secondary HUS is often initiated by coexisting diseases or conditions such as infections, transplantation, cancer, and autoimmune disease. Atypical HUS (aHUS) is usually induced by genetic mutations of one or several complement-regulating genes and associated with dysregulated complement activation. In the era of compliment-inhibiting therapy, early recognition of aHUS is important for patient prognosis. However, compliment-inhibiting therapy is not always beneficial in patients with secondary HUS. CASE REPORT We present a case of a 49-year-old woman with aHUS, which was caused by a novel genetic point mutation of complement factor H gene (p.Gly1110Ala) mimicking secondary HUS with scleroderma. Instead of administering eculizumab treatment for C5 polymorphism, the patient was successfully treated with mycophenolate mofetil. CONCLUSIONS HUS has complex and mixed etiologies and requires genetic testing. Attention should be paid to new point mutations in aHUS.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Scleroderma, Systemic
/
Point Mutation
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Atypical Hemolytic Uremic Syndrome
Type of study:
Prognostic_studies
Limits:
Female
/
Humans
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Middle aged
Language:
En
Journal:
Am J Case Rep
Year:
2020
Document type:
Article
Affiliation country:
Corea del Sur
Country of publication:
Estados Unidos