2 nd ARPKD Family Information Day Saturday 6 th July Welcome!
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1 2 nd ARPKD Family Information Day Saturday 6 th July 2013 Welcome!
2 Programme - morning Welcome - Tess Harris, Chief Executive PKD Charity Overview of ARPKD and Programme Dr Larissa Kerecuk, Consultant Nephrologist, ARPKD RADAR RDWG Coordinator, BCH Prenatal aspects of ARPKD Dr Paul Winyard, Head of Nephro-urology Unit, GOSH/UCL Kidney aspects of ARPKD Dr Detlef Bockenhauer, Consultant Nephrologist and Clinician Scientist, GOSH/UCL Liver aspects of ARPKD Dr Pat McKiernan, Consultant Hepatologist, BCH Family Story - Mr and Mrs Raine Parents of Nicole and Lola
3 Programme - afternoon Genetics of ARPKD Dr Jo Jarvis, Consultant Geneticist, BWH ARPKD Genetics Research - Prof Carsten Bergman, Prof Human Genetics, Ingelheim, Germany Renal RADAR & Improving Patient Information, Melanie Dillon, RADAR Administrator & Linguistics Editor, Renal Registry & BCH Liver Kidney Transplantation - Mr Khalid Shariff, Consultant Hepato-Biliary and Transplant, BCH Latest from 1st ARPKD International Consensus Guidelines Meeting May 2013, Washington Dr Larissa Kerecuk, BCH
4 Visit the Enhanced Genetics Services Project Stand Raising awareness of genetic conditions in community Amal Muflahi Clinical Educator Birmingham Women s Hospital NHS Trust
5 Programme Lectures In Lecture Theatre For Children: Sea Life Centre Trip Play Centre and Entertainer Lunch: Hospital restaurant Packed lunch for Sea Life Centre Children Dinner - Pizza Express
6 ARPKD Dr Larissa Kerecuk Consultant Paediatric Nephrologist ARPKD RWG Coordinator
7 What is ARPKD? Autosomal Recessive Polycystic Kidney Disease Rare genetic condition: affects 1 in to 1 in people Causes major problems in 2 major organs: kidney and liver Other organs also involved Problems can vary a lot in terms timing and severity - even in the same family
8 How does it go wrong in the kidneys?
9 How does it go wrong in the kidneys? Collecting duct dilatation in ARPKD Lonergan G J et al. Radiographics 2000;20: Dr Bockenahuer will tell us more about kidneys in ARPKD
10
11 When does it cause a problem? Before birth Infancy Childhood The Raine Family will tell us about their experience of ARPKD and having 2 affected children
12 When does it cause a problem? Before birth Can present as bright kidneys on antenatal scans with low amniotic fluid % cases are diagnosed before birth If the kidney disease is severe the infant may have Potter s syndrome due to lack of amniotic fluid Dr Paul Winyard will tell us about antenatal diagnosis and Fetal Clinic at UCLH/GOSH, London
13 When does it cause a problem? Infancy Kidneys can be v large at birth with underdeveloped lungs and v distended abdomen one kidney may need to be removed Prematurity Low salt levels Kidney failure High blood pressure Initial survival reported as 80-50%
14 Problems in infancy V stressful Rollercoaster Last year we heard Mr Brown on his experience as a parent of Arran Brown
15 After infancy If neonatal period survived, then chances of survival into childhood and adulthood are much higher up to 85% in 5 yrs
16 What are the problems in childhood? High blood pressure 65-76% Failure to thrive/growth problems 16-24% Large kidneys largest kidney: abdomen ratio at around 1 2 yrs of age and stabilise at 4-5 yrs Kidneys not able to concentrate urine so passing dilute urine, need to drink lots, bed wetting and prone to dehydration
17 Chronic kidney disease Renal survival rate: 86% at 5 years 71% at 10 years 66% at 15 years 42% at 20 years
18 Chronic kidney disease: treatment There is no cure or anything that causes cysts to stop growing...just like most of other kidney diseases! However, important to control high blood pressure as this can make kidneys fail faster Renal replacement therapy: dialysis (peritoneal or haemodialysis) transplantation
19 What about the liver? Very variable No correlation with kidney disease Portal HT: increased pressure in circulation in liver Varices: dilated blood vessels in gut esp. gullet which can bleed Enlarged spleen
20 What about the liver? Also bile duct cysts Can lead to infection Gallstones Dr McKiernan, Consultant Paediatric Hepatologist, will tell us more!
21 Combined liver kidney transplantation May be needed if signs of portal hypertension or biliary duct disease Birmingham Children s Hospital only Children s Hospital which performs this op in UK Mr Khalid Shariff, Consultant Hepatobiliary and Transplant Surgeon, will discuss this further
22 What is cause of ARPKD? Defect in a single gene PKHD1 (polycystic kidney and hepatic disease 1)
23 Genetic condition...more later from Dr Jo Jarvis, Consultant Geneticist, Birmingham Women s Hospital...and visit EGSP Stand
24 PKHD1 Provides instructions to make a protein called fibrocystin which is found in cells of kidney, liver & pancreas
25 Fibrocystin: protein in cilia - cell sensing device
26 Research: Understanding disease to find future therapies Prof Carsten Bergman, Prof Human Genetics, Ingelheim, Germany will tell us what he has discovered about this disease
27 ARPKD RaDaR Working Group Renal Rare Disease Registry Doctors, scientists and patient representatives with aims of providing: Information & support for patients & families Best practice guidelines for clinical teams who may not be familiar with ARPKD Research into ARPKD
28 How? Patient Information Days and Literature Improving clinical care by developing latest evidence-based clinical guidelines Research registry information to help Determine disease characteristics How currently treated Epidemiological data Ready cohort for scientific research Ready cohort for new treatments
29 Melanie Dillon will tell us about: - Improving patient information - RADAR : Renal Rare Disease Registry - How to join!
30 RaDaR is UK based ARPKD RaDaR Links established with: European web-based ARPKD Registry (based in Cologne) ARegPKD - Dr Max Liebau US-based Hepato/Renal Fibrocystic Diseases Core Center (UAB HRFDCC)
31 1 st ARPKD Clinical Care Conference, May 2013 Washington Organised by Prof Lisa Guay-Woodford Experts in different fields of ARPKD attended to review everything we know about ARPKD, to produce best practice guidelines and to guide future areas of research
32 ARPKD RaDaR Working Group Working primarily to improve care for patients with ARPKD We need your help by being involved and telling us what about your experiences (good and bad) and what is important to you! Thanks v much
33 Sources of support and information PKD Charity: Arran Brown Rainbow Foundation: out/
34 Sources of support and information ARPKD/CHF Alliance: Hepato/Renal Fibrocystic Diseases Translational Resource:
35 Programme Welcome - Tess Harris Overview of ARPKD and Programme Dr Larissa Kerecuk Prenatal aspects of ARPKD Dr Paul Winyard Kidney aspects of ARPKD Dr Detlef Bockenhauer Liver aspects of ARPKD Dr Pat McKiernan Family Story - Mr and Mrs Raine LUNCH Genetics of ARPKD Dr Jo Jarvis ARPKD Genetics Research - Prof Carsten Bergman RADAR & Improving Patient Information, Melanie Dillon TEA Liver Kidney Transplantation - Mr Khalid Shariff Latest from First International Consensus Guidelines Meeting May 2013, Washington Dr Larissa Kerecuk
36 Any questions
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