Atypical Hemolytic Uremic Syndrome Associated with Complement Factor H Mutation and IgA Nephropathy: A Case Report Successfully Treated with Eculizumab
We present a rare case of IgA nephropathy in a patient who developed atypical hemolytic uremic syndrome (aHUS) associated with a complement factor H (CFH) gene mutation, and who was successfully treated with eculizmab. A 76-year-old man was admitted as the patients had thrombotic microangiopathies f...
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| Veröffentlicht in: | Nephron (2015) 2018-01, Vol.138 (4), p.324-327 |
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| container_title | Nephron (2015) |
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| creator | Nakamura, Hironori Anayama, Mariko Makino, Mutsuki Makino, Yasushi Tamura, Katsuhiko Nagasawa, Masaki |
| description | We present a rare case of IgA nephropathy in a patient who developed atypical hemolytic uremic syndrome (aHUS) associated with a complement factor H (CFH) gene mutation, and who was successfully treated with eculizmab. A 76-year-old man was admitted as the patients had thrombotic microangiopathies findings. The patient was treated with plasma exchange, hemodialysis and methylprednisolone. A disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13 level was not decreased. Light microscopy findings were consistent with hemolytic uremic syndrome and immunofluorescence analysis revealed IgA and C3 were detected. Genetic analysis revealed that mutation of p.Arg1215Gln in CFH was identified. The diagnosis of aHUS was confirmed and eculizmab therapy was currently effective for 5 months. |
| doi_str_mv | 10.1159/000485194 |
| format | Article |
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A 76-year-old man was admitted as the patients had thrombotic microangiopathies findings. The patient was treated with plasma exchange, hemodialysis and methylprednisolone. A disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13 level was not decreased. Light microscopy findings were consistent with hemolytic uremic syndrome and immunofluorescence analysis revealed IgA and C3 were detected. Genetic analysis revealed that mutation of p.Arg1215Gln in CFH was identified. The diagnosis of aHUS was confirmed and eculizmab therapy was currently effective for 5 months.</abstract><cop>Basel, Switzerland</cop><pmid>29241200</pmid><doi>10.1159/000485194</doi><tpages>4</tpages></addata></record> |
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| source | MEDLINE; Karger Journals |
| subjects | Antibodies, Monoclonal, Humanized - therapeutic use Arterioles - pathology Atypical Hemolytic Uremic Syndrome - complications Atypical Hemolytic Uremic Syndrome - drug therapy Atypical Hemolytic Uremic Syndrome - genetics Complement Factor H - genetics Experimental Nephrology and Genetics: Case Study of Genetic Interest Glomerulonephritis, IGA - complications Humans Male Middle Aged Mutation - genetics |
| title | Atypical Hemolytic Uremic Syndrome Associated with Complement Factor H Mutation and IgA Nephropathy: A Case Report Successfully Treated with Eculizumab |
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