Dr Pamela Wu1,2, Dr Beata Zahorowska1,2
1Department of Nephrology, Liverpool Hospital, Sydney, Australia, 2South Western Sydney Clinical School, University of New South Wales, Sydney, Australia
Biography:
Bio to come
Background:
Paroxysmal nocturnal haemoglobinuria (PNH) is a rare condition characterised by haemolytic anaemia, pancytopenia and thrombosis. Renal impairment is present in 14% of PNH cases and is the leading cause of death in PNH.
Case Report:
We report a case of a 47- year-old male with paroxysmal nocturnal haemoglobinuria presenting with anuric renal failure in the setting of an Influenza A infection. He presented with macrohaematuria, albuminuria and mild acute kidney injury. 3 days later he rapidly developed anuric renal failure with new pancytopenia. He previously had an episode of macrohaematuria related to another infection. Empirical pulse steroids were given for suspected synpharyngitic IgA Nephropathy and he was commenced on haemodialysis.
A haemolytic screen revealed elevated lactate dehydrogenase with an undetectable Haptoglobin, however no haemolysis was appreciated on serial blood films. A renal biopsy was pursued showing normal glomeruli and extensive tubulopathy with fibrin and blood.
A PNH assay a week later showed PNH clones (14% PNH red cells and 55% of PNH monocytes and PNH granulocytes). Therefore, he received Eculizumab. He responded well and was successfully weaned off haemodialysis within 2 weeks of commencing treatment.
Conclusion:
PNH is an exceedingly rare condition caused by a genetic mutation leading to an overactive complement system causing excessive cell lysis. This in turn causes haemosiderin deposits in the kidney leading to significant tubular damage. Early diagnosis of PNH is crucial due to the risk of morbidity, particularly in patients with anuric renal failure.