R PENAFIEL1, L WIEDERSEHN1, R ESLICK2, D HSU2, A SINGH3, J WONG1
1Department of Renal Medicine, Liverpool Hospital, Liverpool , Australia , 2Department of Haematology, Liverpool Hospital , Liverpool , Australia , 3Department of Anatomical Pathology, Liverpool Hospital , Liverpool, Australia
Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human enzyme defect, affecting > 400 million people globally. However, there are few reports of acute haemolysis from G6PD deficiency resulting in anuric acute kidney injury (AKI). The mechanism of AKI from haemolysis is due to pro-oxidant and pro-inflammatory effects of haem pigment on tubules. We present a case of severe haemolysis resulting in anuric AKI treated with plasmapheresis and haemodialysis.
Case Report: A 50-year-old Greek male presented with a 3-day history of lethargy, nausea and dark urine then anuria following a lifetime first meal of fava beans cooked by his mother. He had no previous medical history other than spastic paraparesis. He was anuric on admission with a haemoglobin of 37 g/L, urea 37.7 mmol/L, creatinine 615 µmol/L, and bilirubin 128 umol/L, consistent with severe intravascular haemolysis and AKI. He required continuous renal replacement therapy followed by intermittent haemodialysis. Three cycles of plasmapheresis were employed to remove circulating haem pigment. Renal biopsy showed acute tubular necrosis with intratubular red cell fragments on glycophorin-A staining. Two months after initial presentation, G6PD deficiency was confirmed with a level of 0.5 U/g Hb, a creatinine of 102 µmol/L and haemoglobin 129 g/L. Familial enzyme testing found the patient’s nephew to also be G6PD deficient.
Conclusions: This case demonstrates fava-bean induced severe haemolysis from G6PD deficiency resulting in anuric renal failure. Further genetic testing is indicated to demonstrate the presence of G6PD variants that lead to a genetic predisposition to severe haemolysis.
Dr Rowena Penafiel is currently a Basic Physician Trainee at Liverpool Hospital, Sydney