1 / 8

Ra re D ise a se R egistry

Get the current status of the RaDaR Rare Disease Registry in the UK, with over 23,800 patients from 101 hospitals and ongoing recruitment for various rare diseases. Supported by Melanie Dillon, RaDaR Operations Officer.

margiem
Télécharger la présentation

Ra re D ise a se R egistry

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  1. Rare Disease Registry Melanie Dillon RaDaR Operations Officer, UK Renal Registry

  2. Current Status of RaDaR • As of 01/08/2019 there are: • 23,814 UK patients in RaDaR • From 101 hospitals • A further 3 sites are currently in set-up • Approximately 350 new recruits a month

  3. Current Recruitment - 1 • Adenine Phosphoribosyltransferase Deficiency (APRTD) • AH amyloidosis • AHL amyloidosis • AL amyloidosis • Alport Syndrome • Atypical HaemolyticUraemic Syndrome (aHUS) • Autosomal Dominant Polycystic Kidney Disease (ADPKD) • Autosomal Recessive Polycystic Kidney Disease (ARPKD) • Bartters Syndrome • BK Nephropathy • C3 glomerulonephritis with monoclonal gammopathy • C3 Glomerulopathy • Calciphylaxis • Crystalglobulinaemia • Crystal-storing histiocytosis • Cystinosis • Cystinuria • Dense Deposit Disease (DDD) • Dent Disease • Denys-Drash Syndrome • Epilepsy, Ataxia, Sensorineural deafness, Tubulopathy Syndrome (EAST) • Fabry Disease • Fibrillary Glomerulonephritis • Fibromuscular Dysplasia • Focal Segmental Glomerulosclerosis (FSGS) • Gitelman Syndrome • Hepatocyte Nuclear Factor-1 Beta Mutations (HNF1B) • Hyperuricaemic Nephropathy • IgA Nephropathy • Immunotactoid/Glomerulonephritis with Organised Microtubular Monoclonal Immunoglobulin Deposits (GOMMID) • Intracapillary monoclonal IgM without cryoglobulin

  4. Current Recruitment - 2 • Intraglomerular/capillary lymphoma/leukaemia • Liddle Syndromes • Light chain cast nephropathy • Light chain proximal tubulopathy, crystalline • Light chain proximal tubulopathy, non crystalline • Lowe Syndrome • Membranous Nephropathy • Membranoproliferative Glomerulonephritis (MPGN) • Medullary Cystic Kidney Disease • Minimal Change Nephropathy • Monoclonal Immunoglobulin Deposition Disease (MIDD) • Nail Patella Syndrome • Nephronophthisis (NPHP) • Pregnancy and Chronic Kidney Disease • Primary Hyperoxaluria • Proliferative glomerulonephritis with monoclonal immunoglobulin deposits – PGNMID • Proximal tubulopathy without crystals • Pure Red Cell Aplasia • Retroperitoneal Fibrosis • Shiga Toxin AssociatedHaemolyticUraemic Syndrome (HUS) • Steroid Resistant Nephrotic Syndrome (SRNS) • Steroid Sensitive Nephrotic Syndrome (SSNS) • Thin Basement Membrane Nephropathy • Thrombotic Microangiopathy with monoclonal gammopathy • Type 1 cryoglobulinaemic Glomerulonephritis • Tuberous Sclerosis • Unclassified Monoclonal Gammopathy of Renal Significance (MGRS) • Vasculitis

  5. Forthcoming Conditions • Autoimmune distal renal tubular acidosis • Autosomal recessive distal renal tubular acidosis • Autosomal recessive proximal renal tubular acidosis • Dominant hypophosphatemia with nephrolithiasis or osteoporosis • Drug induced Fanconi syndrome • Drug induced hypomagnesemia • Drug induced Nephrogenic Diabetes Insipidus • Familial Hypomagnesaemia with hypercalciuria and nephrocalcinosis • Familial primary hypomagnesemia with hypocalcuria • Familial primary hypomagnesemia with normocalcuriaEGF • Familial renal glucosuria • FanconiRenotubular syndrome 1 (FRTS1) • FanconiRenotubular syndrome 1 (FRTS1) • FanconiRenotubular syndrome 3 (FRTS3) • Generalized pseudohypoaldosteronism type 1 • Heavy metal induced Fanconi syndrome • Hereditary renal hypouricemia • Hereditary hypophosphatemic rickets with hypercalciuria • Isolated autosomal dominant hypomagnesemia, Glaudemans type • Nephrogenic diabetes insipidus • Nephrogenic syndrome of inappropriate antidiuresis • Oncogenic osteomalacia • Osteopetrosis with renal tubular acidosis • Primary hypomagnesemia with secondary hypocalcemia • Pseudohypoaldosteronism type 2A • Pseudohypoaldosteronism type 2B • Pseudohypoaldosteronism type 2C • Pseudohypoaldosteronism type 2D • Pseudohypoaldosteronism type 2E • Renal pseudohypoaldosteronism type 1 • PlusInherited Renal Cancer Syndromes

  6. Recruits by Rare Disease Group

  7. Recruits by Hospital

  8. Supporters RaDaR is generously supported by:

More Related