SP143THE DIFFERENT FACES OF ACUTE HAEMOLYTIC UREMIC SYNDROME

Abstract

Introduction and Aims: Haemolytic uremic syndrome (HUS) is characterized by haemolytic microangiopathic anaemia, thrombopaenia and kidney failure with involvement of other organs. The presentation is not always complete, so it could be difficult to diagnose. Methods: We describe four patients with aHUS with distinct presentation and evolution, with good response to eculizumab. Results: Case 1:Woman 29 years old. When she was 15, non nephrotic proteinuria, arterial hypertension and anaemia without haemolytical signs nor kidney failure were found. A renal biopsy showed mesangial IgM glomerulonephritis. At 26 years old, she presented hypertensive emergency, kidney failure (sCr 5 mg/dl), and haemolytic microangiopathic anaemia with thrombopaenia. A kidney biopsy showed thrombotic microangyopathy (TMA) over chronic lesions. She was diagnosed of TMA secondary to uncontrolled glomerulonephritis. Plasma exchange was started, The haemolytic picture was controlled, but renal function did not improve, so renal replacement therapy (RRT) was started. On the next months, while on dialysis she presented neurological symptoms. A MRI was performed and ischaemic lesions were found. Then a new episode of severe TMA was observed, that moved to change diagnosis to atypical HUS. Plasmapheresis was restarted, and after three sessions without response, Eculizumab was administered. After the 3rd dose, a new MRI was performed and important improvement of cerebral lesions were observed, without changes in kidney function. The genetic study, showed factor H risk polimorfism in homozygosis. After 2 years in haemodialysis and eculizumab therapy, she received a kidney transplant with excellent evolution 4 months later. Case 2:Woman 32 years old. At 28 she presented acute haemolytic microangyopathic anaemia (Hb 6 mg/dl, LDH 720, haptoglobin <5 mg/dl), thrombopenia 54000 cels/ul), and renal failure (Cr 5,5 mg/dl) that evolved to end stage renal disease in one week despite plasma exchange therapy (27 sessions), The haemolytic picture resolved, and she remained in RRT with clinic stability during five years. When eculizumab was disposable, she was transplanted from a cadaveric kidney donor, receiving profilactic eculizumab. After 1 year, she remains stable, without haemolytic signs and normal kidney function (sCr 0,8 mg/dl). Case 3:Woman 45 years old. End stage renal disease due to progressive renal insufficiency after preeclampsia. She received a cadaveric kidney transplant, with good postranplant evolution (Cr 1 mg/dl 5 days after transplant). On the 7th day after transplant she presented haemolytic anaemia (Hb 7,2 mg/dl, haptoglobin < 5 mg/dl, LDH 956) and thrombopenia, (42000 platelets), with increase in serum creatinine until 3 mg/dl. After 3 plasma exchange sessions without response, Eculizumab was started (1200 mg/week). After one single dose, haemolysis resolved and kidney function improves until normality. Genetic study is ongoing. After 7 months of transplant, no new episodes of haemolysis have been seen. Case 4: patient of 34 years old. Admitted to ICU for septic shock due to E. Coli infection. After antibiotic and supportive therapy (including hdvvc), the patient presented rapid neurological impairment of unclear origin, established kidney failure requiring RRT, and anaemia and thrombopenia without other haemolytical signs. He remained comatous, during 6 months. After that, the case was changed to another hospital, atypical haemolytic uremic syndrome was suspected and eculizumab therapy was started. 3 weeks later, progressive neurological improvement was observed, but he remains on RRT. Conclusions: Those cases show the different presentations of aHUS. Nephrologist sould have it in mind to identify it and start prompt therapy.