J DIEP1, D POTTER1, D HSU2, S LO3, J YONG4, J MAI1
1Department of Nephrology, Liverpool Hospital, Liverpool, Australia, 2Department of Haematology, Liverpool Hospital, Liverpool, Australia, 3Department of Cardiology, Liverpool Hospital , Liverpool , Australia, 4Department of Anatomical Pathology, Liverpool Hospital, Liverpool, Australia
Introduction: Atypical Haemolytic Uremic syndrome (aHUS) is a severe and potentially relapsing disorder characterised by a typical triad of thrombocytopenia, haemolysis and acute renal failure. More than 50% will progress to chronic renal failure and 10% succumb to complications of the disease. Mutations in the CFH genes impart a worse prognosis.
Case presentation: We present the challenging case of a forty-four-year-old female with Atypical Haemolytic Uremic Syndrome (aHUS) associated with mutations in the complement genes CFHR1/CFHR3. This occurred five months after she underwent autologous stem cell transplantation for Relapsing Remitting Multiple Sclerosis and two years after prophylactic bilateral mastectomy for a positive BRCA gene mutation. Her aHUS was characterised by progressive renal failure and severe extra-renal manifestations including haemolysis, cardiomyopathy, and haemorrhagic cystitis; in addition to pulmonary, gastrointestinal and neurological involvement. The initial renal biopsy showed thrombotic microangiopathic changes involving all glomeruli. Conventional therapy with plasma exchange only conferred a marginal improvement. Eculizumab therapy, commenced within 2 weeks of presentation, successfully reversed the extra-renal manifestations over several weeks. The renal function continued to deteriorate despite eculizumab intensification and progress renal biopsies showed ongoing thrombotic microangiopathy with progressive chronic tubulointerstitial fibrosis. The patient remains on peritoneal dialysis.
Conclusion: Atypical Haemolytic Uraemic Syndrome affects multiple organs with a high degree of morbidity and mortality. Eculizumab is the treatment of choice. Whilst organ injuries are potentially reversible with timely targeted treatment, it appears that the kidneys are most vulnerable to injury.
Dr Jason Diep is currently undertaking first-year Advanced Training in Nephrology at Liverpool Hospital. Prior studies include an undergraduate Bachelor of Science (Visual Science) at the University of New South Wales, and a Bachelor of Medicine/Bachelor of Surgery (MBBS) at the University of Sydney.