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03 May 2020 : Case report  South Korea

Atypical Hemolytic Uremic Syndrome (p.Gly1110Ala) with Autoimmune Disease

Challenging differential diagnosis, Unusual setting of medical care, Rare disease

Sihyung Park1ADEF, Yoo Jin Lee1F, Yang Wook Kim1DF, Junghae Ko1F, Jin Han Park1F, Il Hwan Kim1F, Hee-Jin Kim2CD, Doyeun Oh3CD, Bong Soo Park1AD*

DOI: 10.12659/AJCR.922567

Am J Case Rep 2020; 21:e922567


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.

Keywords: Hemolytic-Uremic Syndrome, Mutation, Scleroderma, Diffuse, Atypical Hemolytic Uremic Syndrome, Complement Factor H, Middle Aged, Mycophenolic Acid, Point Mutation, Scleroderma, Systemic


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American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923