CASE REPORT: FIRST PRESENTATION OF G6PD DEFICIENCY IN AN ELDERLY PATIENT WITH SEVERE HAEMOLYSIS, ACUTE KIDNEY INJURY AND METHAEMOGLOBINAEMIA
Dr Peter-joon Lee1, Dr Govind Narayanan2
1Liverpool Hospital, Liverpool, Australia, 2Liverpool Hospital, Liverpool, Australia
Background: G6PD deficiency is a common enzymatic disorder that leaves erythrocytes susceptible to haemolysis under oxidative stress. It is usually diagnosed in childhood, but here we describe a first presentation of G6PD deficiency in an elderly gentleman with acute kidney injury.
Case Report: A 76-year-old gentleman of Cyprian ethnicity presented to hospital systemically unwell with fevers, dysuria, jaundice and dark-coloured urine. Despite absence of respiratory distress, oxygen saturations were 75-85%, which was only partially responsive to 15 L/min oxygen. This correlated with elevated methaemoglobin of 5.9% (NR 0.4-1.2) on venous blood gases. Laboratory studies also revealed a haemoglobin of 59 g/L (NR 130-170) and evidence of non-immune oxidative haemolysis with an undetectable haptoglobin (NR 0.50-2.60), reticulocytosis of 272 x10^9/L (NR 50-100), bilirubin of 98 μmol/L (NR<20), and blood film showing bite and blister cells. Quantitative G6PD assay demonstrated a low G6PD level of 3.2 U/g.Hb (NR 4.6-13.5). On evaluation, the patient reported regular intake of fava beans since his younger years. No positive family history or other contributing medications were identifiable. The likely trigger was Serratia marcescens urinary tract infection, which was treated with appropriate antibiotics.
Despite treatment, the patient developed severe acute kidney injury, with a peak creatinine of 650 μmol/L (NR 60-100). Urinary studies were consistent with haemoglobinuria and microscopy demonstrated pigmented brown casts. Other secondary causes of renal impairment were excluded based on blood tests and imaging. Renal function improved over a week without renal replacement therapy.
Conclusion: First presentation of severe haemolysis secondary to G6PD deficiency is rare in the elderly but clinicians should be aware of this possibility as patients may encounter serious complications including pigment cast nephropathy and methaemoglobinaemia.
Biography:
Dr Peter Lee is a Nephrology Advanced Trainee who is currently in his second year of training. He is training in the Central Network in NSW and is mostly based at Liverpool Hospital. He graduated with a Bachelor of Science (Advanced) in 2014 and with a Doctor of Medicine in 2018. His interests include general nephrology, diabetic kidney disease and glomerulonephritis.