Anti-complement factor H (CFH) antibodies and a novel CFH gene mutation in an atypical hemolytic uremic syndrome patient with complement activation of the classical pathway
In: Immunological Medicine, Jg. 44 (2021), Heft 4, S. 274-277
Online
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Zugriff:
Atypical hemolytic uremic syndrome (aHUS) is a rare disease caused by overactivation of the complement alternative pathway. aHUS involves the presence of antibodies against complement factor H and its mutations in the complement genes. A 2-month-old boy presented with discoid rash, hemolytic anemia, thrombocytopenia, multiple antibodies, and hypocomplementemia with a very low level of C4 (< 3 mg/dL), indicating activation of the complement pathway, together fulfilling the systemic lupus erythematosus (SLE) criteria of the American College of Rheumatology at 5 months of age. However, most of these findings normalized spontaneously without any intervention. Further investigations revealed a high level of anti-complement factor H antibodies and a novel heterozygous missense mutation (p.Glu1172Ala, located in exon 22) in a complement gene, CFH. At 2 years of age, his SLE-like symptoms have not recurred, but hematuria and schistocytes were persistent. Eventually, aHUS was diagnosed rather than SLE. Our findings suggest that multiple antibody complex, including anti-complement factor H antibody, may temporarily activate the classical pathway, resulting in SLE-like findings.
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Anti-complement factor H (CFH) antibodies and a novel CFH gene mutation in an atypical hemolytic uremic syndrome patient with complement activation of the classical pathway
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Autor/in / Beteiligte Person: | Nakao, Hiro ; Kubota, Mitsuru ; Hidaka, Yoshihiko ; Ishiguro, Akira ; Nishi, Kentaro ; Inoue, Norimitsu ; Iijima, Hiroyuki ; Minato, Sonoko |
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Zeitschrift: | Immunological Medicine, Jg. 44 (2021), Heft 4, S. 274-277 |
Veröffentlichung: | Taylor & Francis Group, 2021 |
Medientyp: | unknown |
ISSN: | 2578-5826 (print) |
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