Welcome to the UK Primary Hyperoxaluria family support day
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1 Welcome to the UK Primary Hyperoxaluria family support day
2 Understanding Primary Hyperoxaluria (PH) / Oxalosis together Dr Sally-Anne Hulton Kim Hollander
3 % PH Patients PH is diagnosed at any age PH1 PH2 PH3 0 <1y Age of onset in years
4 PH1 >850, PH , PH
5 Managing PH together: medicines and dialysis Dr Sally-Anne Hulton Consultant Paediatric Nephrologist Birmingham Children's Hospital
6 Common signs / symptoms for all types of PH Blood in urine Urine infection Kidney stone Calcium oxalate
7 Presenting features PH1 (commonly at age 5 yrs) Blood in urine 70% Stones 50% Infants have more severe form: Calcification in kidneys (Nephrocalcinosis) Poor kidney function or failure
8 Presenting features PH2 (commonly at age 15 yrs) Stones 70% Pain from stones 50% Blood in urine 30% Urine infection 20%
9 Presenting features PH3 (commonly under age 10 yrs) Stones 70% Blood in urine 30% Urine infection 20%
10 Treatment Reduce oxalate production Minimize absorption of oxalate Minimize oxalate deposition
11 Early therapy affects long term outcome 20/27 PH1 children stable GFR over 20yrs document genetic data allows time to reflect on phenotypic variability Fargue S et al Kid Int 2009; 76:
12 Minimize oxalate deposited High fluid intake for size = 2.5 litres/m 2 /day
13 Minimize oxalate deposited Salt intake Potassium citrate to reduce urine acidity Thiazide to increase urine production
14 Minimize absorption of oxalate Avoid vitamin C supplements Vitamin C increases oxalate absorption and is broken down to oxalate in body
15 Minimize absorption of oxalate Reduce oxalate containing foods PH3 vegetarian diet? benefit
16 Minimize absorption of oxalate Oral bacteria supplements (Oxalobacter) binds oxalate in gut thereby reducing oxalate in urine no proven benefit in trials so far Hoppe B et al. Nephrol Dial Transplant 2011
17 Reduce oxalate production Vitamin B6 (Pyridoxine) high dose 5mg/kg x 3 month trial: only PH1 Pyridoxine residual activity of AGT Gly170Arg or Phe1 52Ile mutation PH1: sensitive to B6 Watch for nerve tingling
18 Consequences of PH1 Great variability in presentation Same gene defect but different presentations even in siblings or twins Progressive kidney impairment in majority
19 Monitoring Blood tests: oxalate + kidney function Urine oxalate Ultrasound scan of kidneys
20 Kidney function is influenced by the degree of hyperoxaluria: 68 patients After 20 years: 92% with lower urine oxalate have good kidney function compared with 72% with higher urine oxalate Kidney International (2006) 70,
21 Kidney alerts Nephrocalcinosis: development important recurrent stones cause damage recurrent stone operations damage kidney function alert 40% stone formers who developed kidney failure had single functioning kidney CJASN 2011; 6 (8) Jungers Am J Kid Dis 2004; 44:
22 Kidney ultrasound scan normal oxalosis
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24
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26 How the kidneys work kidneys acts like a selective sieve 2 main jobs are to clean the blood: getting rid of wastes the body does not need (e.g. oxalate) & get rid of excess water (urine) makes hormones for red blood cells & bone growth controls blood pressure
27 Main wastes removed: creatinine, urea, oxalate
28 GFR test of kidney function Can be measured accurately by an injection or estimated by calculating from blood creatinine level: Height/creat x 31 Normal GFR = 80 to 100 ml/min/1.73m 2
29 GFR test of kidney function annually If 60 or more stable If discuss liver transplant + review genotype Gly170Arg If less than 40 plan/discuss combined liver + kidney transplant
30 Chronic Kidney Failure (CKD) kidneys act like a sponge when they stop clearing wastes (oxalate) the body retains all the excess water anaemia growth slows down oxalate levels increase in CKD & oxalate rises more quickly when urine output stops
31 Treatments for kidney failure Haemodialysis (HD) Peritoneal Dialysis (PD)
32 Peritoneal Dialysis (PD) PD clears wastes and fluids through a tube in the abdominal area This is usually done over night at home
33 Peritoneal Dialysis Machine
34 Haemodialysis (HD) Haemo means blood Dialysis is the process used to clean the blood of waste products This is carried out by a HD machine in hospital There is also overnight HD for children over 5 yrs or adults (reduces impact on daily life)
35 How haemodialysis works Blood is pulled from the person, through chosen access, via a blood pump The blood enters a filter = artificial kidney This does some of the work of the kidneys to get rid of waste and excess water The blood is then returned to the patient: process takes 4 hours
36 Haemodialysis Machine
37 Dialysis in PH Unable to reduce oxalate load Weekly dialysis clearance of oxalate (7 days of dialysis) = same as 2 days of oxalate production from body Peritoneal dialysis Haemodialysis Better oxalate clearance 120 ml/min Less effective oxalate clearance 7 ml/min Perit Dial Int 1994; 14; / NDT 2001; 16: / Kid Int 2006; 70:
38
39 HD Treatment Impact on Time HD is normally 3-4 times a week but sometimes for oxalosis can be up to 6 times a week Each session is 4 hours In real terms this is about 6-7 hours a day Transport can be provided
40 Cumulative Survival Effect of years of dialysis on survival UK data < 2 years (n = 51) 2-5 years (n = 21) 5 + years (n = 16) Time post transplant (months)
41 Consequences of PH with reduced great variability in effect on body bones teeth heart (cardiac) blood vessels eyes kidney function
42 Dental issues with PH Pre assessment Post dental care
43 Impact on the family Parents time Siblings Jobs Holidays Special diets Hospitalisation Development: school, peers, walking Reduce stress through education & support
44
45 Understanding research studies in Primary Hyperoxaluria Dr Sally-Anne Hulton Dr Graham Lipkin Melanie Dillon Dr Patrick Haslett Kim Hollander
46 Rare disease registries are important for us to all to learn together
47 Rare Disease Registry Melanie Dillon Programme Development Officer
48 Current Status of RaDaR As of January 2017 there are: 10,030 UK patients in RaDaR from 78 Renal Units A further 3 units are currently in set-up
49 Hyperoxaluria Recruits There are currently 73 Hyperoxaluria patients in RaDaR from 18 renal units 34 children (aged under 16) 39 adults
50 Link with Patient View RaDaR draws information from Patient View, an online system, which records renal patient s results, medications and clinic letters. Recruited patients are given access to Patient View to see their data online. The majority of renal units in the UK use Patient View. Those that don t can still take part in RaDaR but have to enter the patient s data manually.
51 Information Security Data is anonymised and password protected Participants provided with a secure log-in to access and check their own information via PV Identifiable data only available to patient s clinician and unit administrator Members of the Rare Disease Groups will only see anonymised data numbers not names
52 Patient benefits of joining RaDaR Access to your clinical data online via Patient View Ability to be contacted about potential research studies or patient information events Contribute to the increase in knowledge about your condition
53 RareRenal.org Patient and Clinician information on all conditions covered by RaDaR Links to patient support groups and personal stories Advertising for patient information events
54 Contact Details Melanie Dillon - Melanie.Dillon@renalregistry.nhs.uk RaDaR patient registry for professional access via NHS computers RareRenal public information about rare kidney diseases PatientView - patient accessible health records OxalEurope OHF or to: info@ohf.org
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