Abstract
BackgroundNon-Shiga toxin-associated hemolytic uremic syndrome is known to be caused by dysregulation of the alternative complement pathway. Infections, drugs, pregnancy, bone marrow transplantation, malignancy, and autoimmune disorders have all been reported to trigger episodes of atypical hemolytic uremic syndrome. To the best of our knowledge, there have been no previous reports of an association between diabetic ketoacidosis and atypical hemolytic uremic syndrome.Case presentationWe describe a case of a 26-year-old Spanish man who presented with diabetic ketoacidosis and was found to have the triad of microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury. The patient had a normal ADAMTS13 (a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13) activity level, and his renal biopsy demonstrated predominant changes of diabetic glomerulosclerosis with an area compatible with thrombotic microangiopathy suggestive of superimposed atypical hemolytic uremic syndrome. Complement sequencing subsequently revealed a potential causative mutation in exon 12 of complement factor B with changes of lysine at amino acid position 533 to an arginine (CFB p.K533R).ConclusionsTo the best of our knowledge, this is the first case report of diabetic ketoacidosis presenting with atypical hemolytic uremic syndrome associated with a variant of complement factor B in an adult patient.
Highlights
Non-Shiga toxin-associated hemolytic uremic syndrome is known to be caused by dysregulation of the alternative complement pathway
To the best of our knowledge, this is the first case report of diabetic ketoacidosis presenting with atypical hemolytic uremic syndrome associated with a variant of complement factor B in an adult patient
We report a case of an adult patient with diabetic ketoacidosis (DKA) presenting with atypical hemolytic uremic syndrome (aHUS) associated with a variant of complement factor B (CFB)
Summary
Hemolytic uremic syndrome (HUS) is characterized by the triad of microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury. 11.8 g/dl 2 months prior), thrombocytopenia (150 × 109/L, baseline value 416 × 109/L 2 months prior), acute kidney injury with a blood urea nitrogen/creatinine ratio of 33/3.4 mg/dl (baseline value 40/1.4 mg/dl 2 months prior), and evidence of hemolysis (lactate dehydrogenase 1700 IU/L, indirect bilirubin 1.7 mg/dl) with schistocytes present on his peripheral blood smear His presentation strongly suggested the possibility of thrombotic thrombocytopenic purpura/ HUS, and emergent, empiric plasmapheresis was initiated while awaiting the result for the ADAMTS13 (a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13) activity level. The patient was started on treatment with eculizumab, a humanized monoclonal antibody targeting complement component C5, after he received meningococcal vaccine He had no further episode of DKA or aHUS during 5 months of follow-up after initiation of eculizumab therapy.
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