A few months later she developed intermittent haemoptysis. Anti-GBM negative. Bronchoscopy was normal and bronchial washings essentially normal. There is no coagulopathy. Results: Despite extensive investigations for bleeding, haematuria, haemoptysis, peritoneal bleeding and rectal bleeding, the only abnormalities found are thin GBM and a small rectal polyp. Conclusions: We believe this patient presents with unusual manifestations of bleeding secondary to a genetic defect in type IV collagen. check details 293 RENO NEURO CARDIO SYNDROME – FABRY’S DISEASE: A CASE REPORT JS JAMBOTI1, CH FORREST2 1Department of Renal Medicine, Fremantle Hospital, Fremantle, Western Australia;

2Path West Laboratory Medicine, Fremantle Hospital, Fremantle, Western Australia, Australia Background: Fabry’s disease is a rare X-linked recessive disorder resulting in low levels or absent Lysosomal enzyme

Alpha Galactosidase (AGAL) resulting in build up of Globotriaosylceramide in the cells of various organs like kidneys, CNS and heart leading to protean manifestations. Glomerular injury leads to Focal Segmental Glomerulosclerosis (FSGS). Diagnosis is established by low leucocyte AGAL levels. Electron Microscopy (EM) of renal biopsy selleck products reveals characteristic diagnostic findings. Case Report: A 21 year old man was referred in 2001 with peripheral oedema and a family history of “nephritis” in his deceased grandfather. Serum creatinine was 150 μmol/L and urinary protein 1.5 g/24 h. Renal biopsy

revealed FSGS. Arterio venous fistula was created in March 2011 with stage 4 CKD. Two months later the patient developed Status Epilepticus. MRI revealed multi focal, bi-hemispherical White Matter Lesions. Brain biopsy was performed and patient treated with a diagnosis of Primary CNS Vasculitis. Patient was found to have severe LVH on ECG during the work up for renal transplantation. Dobutamine stress echocardiogram revealed dynamic left ventricular outflow obstruction. Retinal vein branch occlusion was also detected. With multi-system involvement and positive family history, Fabry’s disease was suspected. Low Leucocyte AGAL levels (0.2 nmol/min/mg protein [normal 0.7–3.3]) confirmed the diagnosis. The initial renal biopsy was reviewed with EM at this point, which revealed the characteristic laminated lipid deposits in endothelial cells and macrophages. Discussion and Conclusions: The GNE-0877 diagnosis of Fabry’s disease is often delayed by a decade or more from the initial presentation. Early diagnosis and Enzyme Replacement Therapy might limit the severity of the disease manifestations with improved outcomes. Awareness of the condition and importance of EM in establishing the diagnosis are highlighted. 294 THE EFFECT OF RITUXIMAB IN ADULTS WITH STEROID-DEPENDENT MINIMAL CHANGE DISEASE M LEE, K NICHOLLS Royal Melbourne Hospital, Melbourne, Victoria, Australia Background: Minimal Change Disease (MCD) commonly presents as idiopathic nephrotic syndrome in children.