Atypical haemolytic uremic syndrome from multiple missenses to a full-blown disease

• Published in: BMJ case reports Vol. 12; no. 6; p. e230026
• Main Authors: Mira, Filipe Santos, Nunes, Ana Luísa, Elvas, Ana Rita, Oliveira, Nuno
• Format: Journal Article
• Language: English
• Published: England BMJ Publishing Group LTD 01.06.2019; BMJ Publishing Group
• Series: Case Report
• Subjects: Abdomen; Age; Aged; Anemia; Atypical Hemolytic Uremic Syndrome - complications; Atypical Hemolytic Uremic Syndrome - diagnosis; Atypical Hemolytic Uremic Syndrome - therapy; Blood tests; Case reports; Dehydrogenases; Diagnosis, Differential; E coli; Family medical history; Female; Hemoglobin; Humans; Immunoglobulins; Kidney diseases; Macular degeneration; Monoclonal antibodies; Pain; Patients; Phosphatase; Plasmapheresis - methods; Proteins; Rare Disease; Renal Dialysis - methods; Urinary Tract Infections - complications; Urinary Tract Infections - drug therapy; Urine; Vascular endothelial growth factor; Vascular Endothelial Growth Factor A - therapeutic use; dialysis; acute renal failure; fluid electrolyte and acid-base disturbances; haematology (incl blood transfusion)
• ISSN: 1757-790X; 1757-790X
• DOI: 10.1136/bcr-2019-230026

A 72-year-old woman was admitted to the hospital because of dorsal, lumbar and lower abdomen pain that had started 4 days before. She had a history of age-related macular degeneration (treated with intraocular bevacizumab). Blood tests showed anaemia, thrombocytopaenia, acute kidney injury, elevated liver enzymes and total bilirubin (mainly because of the indirect fraction). Viral serologies and ADAMTS13 activity levels were normal, and stool testing was negative for Escherichia coli-producing Shiga toxins. E. coli was isolated in urine. Atypical haemolytic uremic syndrome triggered by a urinary tract infection or by the vascular endothelial growth factor-inhibitor bevacizumab were the most likely hypothesis. The patient started urgent plasmapheresis and dialysis that lasted for a total of 18 days. There was complete remission and recovery of kidney function allowing for treatment discontinuation, and she was discharged home. After 6 months of follow-up, she shows no signs of relapse.