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Alport syndrome 2015 Manchester Neil Turner Cecil Alport 1880-1959 1905 MBChB Edin 1922 London 1927 Syndrome Alport 2015 What is Alport Syndrome? How rare is it? Is there a treatment for it? Alport Syndrome Kidney disease

  1. Alport syndrome 2015 Manchester Neil Turner

  2. Cecil Alport 1880-1959 1905 MBChB Edin 1922 London 1927 Syndrome

  3. Alport 2015 • What is Alport Syndrome? • How rare is it? • Is there a treatment for it?

  4. Alport Syndrome • Kidney disease • Deafness • Eye changes

  5. Kidney disease and deafness • Alport syndrome • BOR Syndrome • MYH9 diseases • Mitochondrial DNA problems • Others ...

  6. Susie San Diego

  7. What happens in Alport Syndrome

  8. What happens in Alport Syndrome

  9. The glomerulus 10 on a pin 1 million per kidney Beth Shortt

  10. The GBM and filtration barrier

  11. The GBM and filtration barrier

  12. Even closer Normal and Alport GBM

  13. Even closer Hearing

  14. Even closer Cochlear

  15. Kidney disease in Alport’s • Haematuria (blood in urine) • Proteinuria (protein in urine) • Creatinine rises (GFR falls) Speed varies

  16. What happens Age Haematuria 0 Proteinuria 5-15 GFR slips 15-35 Need dialysis 15-70 (35)

  17. Alport 2015 • What is Alport Syndrome? • How rare is it? • Is there a treatment for it?

  18. How many have Alport Syndrome in the UK?

  19. Patients with Alport Syndrome on RRT in the UK 500 10 450 400 350 Number Percentage 300 250 5 200 150 100 50 0 0 1998 1999 2000 2001 2002 2003 2004 2005 2006 2007 2008 2009 2010 UK Renal Registry

  20. How many have Alport Syndrome in the UK? 450-500 on dialysis/ transplanted 450-500 not on RRT Carriers – 2000? (underestimate) Total – maybe 3000?

  21. 15 per year start RRT in the UK 6-7 on RRT per renal unit

  22. Alport 2015 • What is Alport Syndrome? • How rare is it? • Is there a treatment for it?

  24. Gross 2008

  25. ACE inhibitors • Work in animals (mice, dogs)

  26. Age of RRT initiation 10 20 30 40 50 60 70 80 90 0 0 1 01 1990 1 1990 1 01 1991 1 1991 1 01 1992 1 1992 1 01 1993 1 1993 1 01 1994 1 1994 Date of RRT initiation 1 01 1995 1 1995 1 01 1996 1 1996 1 01 1997 1 1997 1 01 1998 1 1998 1 01 1999 1 1999 1 01 2000 1 2000 1 01 2001 1 2001 1 01 2002 Oliver Gross, CJASN 1 2002 Spline curve Alport patient 1 01 2003 1 2003 1 01 2004 1 2004 1 01 2005 1 2005 1 01 2006 1 2006 1 01 2007 1 2007 1 01 2008 1 2008 1 01 2009 1 2009 1 01 2010 1 2010

  27. + 6.4 years Age of RRT initiation 10 20 30 40 50 60 70 80 90 0 0 1 01 1990 1 1990 1 01 1991 1 1991 1 01 1992 1 1992 1 01 1993 1 1993 1 01 1994 1 1994 Date of RRT initiation 1 01 1995 1 1995 1 01 1996 1 1996 1 01 1997 1 1997 1 01 1998 1 1998 1 01 1999 1 1999 1 01 2000 1 2000 1 01 2001 1 2001 1 01 2002 Oliver Gross, CJASN 1 2002 Spline curve Alport patient 1 01 2003 1 2003 1 01 2004 1 2004 1 01 2005 1 2005 1 01 2006 1 2006 1 01 2007 1 2007 1 01 2008 1 2008 1 01 2009 1 2009 1 01 2010 1 2010

  28. Earlier treatment is better? ??? 22 25 40 Gross, Kidney Int 2012

  29. ACE inhibitors • Work in animals (mice, dogs) • Work in humans

  30. ACE inhibitors now Anyone with proteinuria • ‘Carrier’ or fully affected

  31. Jais 2003

  32. ACE inhibitors • Work in animals (mice, dogs) • Work in humans • There are other candidate drugs

  33. ACE inhibitors • Work in animals (mice, dogs) • Work in humans • There are other candidate drugs • Lower proteinuria? • Reduce scarring? • Stabilise GBM?

  34. Dialysis and transplantation Linda Phillips Nancy Spaeth

  35. All patients on dialysis/transplanted Dialysis and transplantation 5000 Transplant APD 4500 CAPD 4000 Home HD Hospital HD 3500 3000 Number of 2500 patients 2000 1500 1000 500 0 1960 1966 1972 1978 1984 1990 1996 2002 2008 2014 Year Scottish Renal Registry 2015

  36. The challenge • Improve • Prevent • Find the next treatments

  37. Neil Turner neil.turner @ed.ac.uk www.edren.org

  38. Neil Sand Diego

  39. Eye changes Retinopathy • Maybe in 40% later? • But it doesn’t matter Lenticonus • When it occurs, it’s late • Change the lens

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