Alport syndrome 2015 Manchester Neil Turner Cecil Alport - - PowerPoint PPT Presentation

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Alport syndrome 2015 Manchester Neil Turner Cecil Alport - - PowerPoint PPT Presentation

Apr 11, 2023 283 likes •692 views

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

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Alport syndrome 2015

Manchester Neil Turner

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Cecil Alport

1880-1959 1905 MBChB Edin 1922 London 1927 Syndrome

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Alport 2015

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

  • Kidney disease
  • Deafness
  • Eye changes
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Kidney disease and deafness

  • Alport syndrome
  • BOR Syndrome
  • MYH9 diseases
  • Mitochondrial DNA problems
  • Others ...
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Susie San Diego

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What happens in Alport Syndrome

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What happens in Alport Syndrome

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Beth Shortt

10 on a pin 1 million per kidney

The glomerulus

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The GBM and filtration barrier

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The GBM and filtration barrier

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Even closer

Normal and Alport GBM

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Even closer

Hearing

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Even closer

Cochlear

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Kidney disease in Alport’s

  • Haematuria (blood in urine)
  • Proteinuria (protein in urine)
  • Creatinine rises (GFR falls)

Speed varies

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What happens Haematuria Proteinuria 5-15 GFR slips 15-35 Need dialysis 15-70 (35)

Age

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Alport 2015

  • What is Alport Syndrome?
  • How rare is it?
  • Is there a treatment for it?
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How many have Alport Syndrome in the UK?

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Patients with Alport Syndrome on RRT in the UK

5 10 50 100 150 200 250 300 350 400 450 500 1998 1999 2000 2001 2002 2003 2004 2005 2006 2007 2008 2009 2010 Percentage

Number

UK Renal Registry

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How many have Alport Syndrome in the UK?

450-500 on dialysis/ transplanted 450-500 not on RRT Carriers – 2000? (underestimate) Total – maybe 3000?

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

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Alport 2015

  • What is Alport Syndrome?
  • How rare is it?
  • Is there a treatment for it?
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Gross 2008

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ACE inhibitors

  • Work in animals (mice, dogs)
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Oliver Gross, CJASN

10 20 30 40 50 60 70 80 90 1 01 1990 1 01 1991 1 01 1992 1 01 1993 1 01 1994 1 01 1995 1 01 1996 1 01 1997 1 01 1998 1 01 1999 1 01 2000 1 01 2001 1 01 2002 1 01 2003 1 01 2004 1 01 2005 1 01 2006 1 01 2007 1 01 2008 1 01 2009 1 01 2010

Date of RRT initiation Age of RRT initiation

Alport patient Spline curve 1 1990 1 1991 1 1992 1 1993 1 1994 1 1995 1 1996 1 1997 1 1998 1 1999 1 2000 1 2001 1 2002 1 2003 1 2004 1 2005 1 2006 1 2007 1 2008 1 2009 1 2010

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Oliver Gross, CJASN

10 20 30 40 50 60 70 80 90 1 01 1990 1 01 1991 1 01 1992 1 01 1993 1 01 1994 1 01 1995 1 01 1996 1 01 1997 1 01 1998 1 01 1999 1 01 2000 1 01 2001 1 01 2002 1 01 2003 1 01 2004 1 01 2005 1 01 2006 1 01 2007 1 01 2008 1 01 2009 1 01 2010

Date of RRT initiation Age of RRT initiation

Alport patient Spline curve 1 1990 1 1991 1 1992 1 1993 1 1994 1 1995 1 1996 1 1997 1 1998 1 1999 1 2000 1 2001 1 2002 1 2003 1 2004 1 2005 1 2006 1 2007 1 2008 1 2009 1 2010

+ 6.4 years

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22 25 40

??? Earlier treatment is better?

Gross, Kidney Int 2012

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ACE inhibitors

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

Anyone with proteinuria

  • ‘Carrier’ or fully affected
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Jais 2003

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ACE inhibitors

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

  • Work in animals (mice, dogs)
  • Work in humans
  • There are other candidate drugs
  • Lower proteinuria?
  • Reduce scarring?
  • Stabilise GBM?
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Dialysis and transplantation

Linda Phillips Nancy Spaeth

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1960 1966 1972 1978 1984 1990 1996 2002 2008 Year Transplant APD CAPD Home HD Hospital HD 500 1000 1500 2000 2500 3000 3500 4000 4500 5000 Number

  • f

patients 2014

Dialysis and transplantation

Scottish Renal Registry 2015

All patients on dialysis/transplanted

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The challenge

  • Improve
  • Prevent
  • Find the next treatments
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Neil Turner neil.turner@ed.ac.uk www.edren.org

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Neil Sand Diego

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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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