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![Page 1: UNDERSTANDING THE BASICS OF PRIMARY · PDF fileUNDERSTANDING THE BASICS OF PRIMARY HYPEROXALURIA Dr.Nageswara Reddy.Pamidi, M.D, D.M(Nephro) Consultant Nephrologist, PREETI Kidney](https://reader031.vdocuments.mx/reader031/viewer/2022022505/5abdd8517f8b9a7e418c286b/html5/thumbnails/1.jpg)
UNDERSTANDING THE BASICS OF PRIMARY HYPEROXALURIA
Dr.Nageswara Reddy.Pamidi, M.D, D.M(Nephro)
Consultant Nephrologist, PREETI Kidney Hospital, Hyderabad
Mayo Clinic Hyperoxaluria Center
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1. Inherited Causes of pediatric stone disease 1.Adenine phosphoribosyltransferase(APRT) deficiency 2.Cystinuria 3.Dent disease 4.Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC), 5.Primary hyperoxaluria (PH)
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CP1167399-5
- O
C
O
C
O O -
Oxalate
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What is oxalate?
• A naturally occurring substance found in plants and animals
• Two sources of oxalate in humans:
• Made in liver during metabolism
• Dietary intake
• Not needed for any human body process
• Majority excreted by healthy kidneys into the urine
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CP1167399-1
Ox
Ox
Glycine glyoxylate oxalate
Liver cell
Glyoxylate
Oxalate
Glycolate
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What is primary hyperoxaluria?
Hyper - oxal - uria
(too much) (oxalate) (in the urine)
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Primary (comes from within)
Hyper - oxal - uria (too much) (oxalate) (in the urine)
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Primary hyperoxaluria
• A condition in which the liver makes too much oxalate
• Genetic mutations result in defective enzymes
• Three types of primary hyperoxaluria based on which enzyme is defective
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Primary hyperoxaluria
• Increased oxalate excreted in the urine
• Oxalate combines with urine calcium forming a salt
• Calcium oxalate damages the kidneys
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Oxalate + calcium = CaOx stones
CP1167399-5
- O
C
O
C
O O -
crystals
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Ox= + Ca++ CaOx
Cell & tissue damage Obstruction Infection
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CP1167399-4
Kidney failure
Deposits of CaOx
in body tissues
(oxalosis)
blood oxalate
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Kidney Stones Primary Hyperoxaluria
1 to 3 per million people
How many people have this problem?
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Types of primary hyperoxaluria
PH1 AGT enzyme
PH2 GR/HPR enzyme
PH3 HOGA1 enzyme
Unclassified ?? cause
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CP1167399-2
Glycine glyoxylate oxalate
Liver cell
Glyoxylate
Oxalate
Glycolate
PH1
AGT
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CP1167399-3
Glycine glyoxylate oxalate
Liver cell
Glyoxylate
Oxalate
Glycolate
PH2
GR
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CP1167399-3
Glycine glyoxylate oxalate
Liver cell
Hydroxyproline
Oxalate
Glyoxalate
PH3
HOGA
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RKSC Primary Hyperoxaluria Registry 379 Patients
73%
10%
9% 7%
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Clinical Manifestations
Heterogeneity of disease expression
Five clinical presentations of PH type 1 based on age at
presentation/renal manifestations
1.Infantile Oxalosis(26%): nephrocalcinosis and renal dysfunction(
failure to grow,UTI)
2.Childhood with recurrent kidney stones & rapid decline in kidney
function(30%): symptoms of renal colic,UTI, obstuction
3.Occasional stone formation in adults(30%)
4.Diagnosis after failed transplant(10%)
5.Diagnosis after family screening(13%): including those who are
asymptomatic
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0
1
2
3
4
5
Normal range
CP1273355-3
Oxala
te (
mm
ol/1
.73
m2/2
4 h
r)
PH type I PH type II Non-PHI/PHII
Urine Oxalate at Diagnosis
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Hyperoxaluria
Urine Oxalate mmol/24 hrs
Normal < 0.45
Idiopathic stone disease 0.46 - 0.6
Enteric hyperoxaluria 0.7 - 1.0
Primary hyperoxaluria 1.0 - 4.0
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Plasma Oxalate Measurement
Plasma oxalate levels elevated (>6.3 μM) with
normal renal function
Significantly higher (>80 to 100 μM) in ESRD due
to Oxalosis
Without PH1 (40 to 60 μM)
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Systemic Oxalosis
• Oxalate overproduction + decreased urinary oxalate excretion = systemic oxalosis
• Deposition in heart: conduction defects, heart failure
• Joints/ bone: pain, resistant anemia, spontaneous fractures
• Hypothyroidism/ /gangrene
• Peripheral neuropathy
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‘White Kidney’ on USG
Nephrocalcinosis
Multiple Renal Calculi & and
early bone changes in
femoral heads
Pitch Black foci of multiple CaOx
crystals in inner retina
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Primary Hyperoxaluria I
transplant
renal failure
urolithiasis dialysis
oxalosis
death
hyperoxaluria
birth 10 yrs 20 yrs 30 yrs 40 yrs
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0
20
40
60
80
100
0 10 20 30 40 50 60 70 80
CP1273215-12
International PH Registry, Renal Survival
Age, years
Number at risk
Renal survival
(%)
P=0.007
PH type II
PH type I
Group PH type I 114 84 55 31 20 11 3 1 0 PH type II 11 8 8 7 6 2 2 1 0 Non-PH/PHI 9 9 3 1 1 0 0 0 0
Non-PHI/PHI I
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Clinical metabolic screening (24 hr urinary oxalate by oxidase method,
increased urinary glycolate)
Confirmation by molecular genetic testing: mutation in AGXT gene
Targeted mutational analysis-50-70%
Whole gene sequencing-100%
Diagnosis
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GENETICS
4 mutations
Gly170Arg(30-40%)
33_34insC(10-13%)
Phe152Ile(1-5%)
Ile244Thr(3-9%)
Account for 50% of the known 90 mutations of PH typeI disease
Oppurtunity to focus on these to save costs
Caveat: no Indian studies
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What can be done to prevent oxalate damage to kidneys?
• Decrease oxalate in the diet?
• Decrease oxalate concentration in urine
• Decrease calcium oxalate crystal formation
• Increase oxalate elimination by the intestines
• Reduce oxalate production by the liver
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0
50
100
150
200
Usual Primary
hyperoxaluria
Effect of Diet on Oxalate in Urine
Oxalate/ 24 hours
(mgm)
CP1167399-6
30 mgm
180 mgm
Diet
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What can be done to prevent oxalate damage to kidneys?
• Decrease oxalate in the diet?
Little effect
• Decrease oxalate concentration in urine
Drink lots of water
• Reduce calcium oxalate crystal formation
Citrate or phosphate medication
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CP1131733-28
Calcium oxalate supersaturation
Pre-Rx 15
10
5
0
Rx
P<0.001
Calcium oxalate inhibition
Pre-Rx 160
120
80
40
0
Rx
P<0.001
Crystalluria score
Pre-Rx 5
4
3
2
1
0
Rx
P<0.001
Neutral Phosphate Treatment in PH
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What can be done to prevent oxalate damage to kidneys?
• Increase oxalate elimination by the intestines
Oxalobacter formigenes
Oxalate degrading enzymes
• Reduce oxalate production by the liver
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What can be done to prevent oxalate damage to kidneys?
• Increase oxalate elimination by the intestines
Oxalobacter formigenes
Oxalate degrading enzymes
• Reduce oxalate production by the liver
Pyridoxine (vitamin B6) p.Gly170Arg, c.33_34insC
Liver transplant
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0
1
2
3
4
Primary Hyperoxaluria Type I U
rin
e o
xala
te
(mm
ol/
1.7
3 m
2/d
ay)
CP968803-18
Baseline Pyridoxine
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Primary Hyperoxaluria Current Treatment Strategies
By 60 yrs of age, more than 80% of patients with type I PH will have renal failure
Dialysis is not an acceptable option
• Simultaneous/ sequential hepatic & Kidney transplantation
• Restore enzyme activity by liver transplantation
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Knowledge of the spectrum of disease expression,
early diagnosis, and initiation of treatment before
renal failure are essential to realize a benefit for
patients.
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History of PH at Mayo
• 1967 First PH patient diagnosed at Mayo
• 1974 Research studies with PH patients started in Rochester
• 2003 OHF funded and established the Mayo Clinic Hyperoxaluria Center in Rochester
• 2004 International PH Workshop and first PH Patient meeting in Rochester
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The PH Center and the Registry share the same staff of physicians and Study Coordinators
Mayo Clinic Hyperoxaluria
Center
Primary Hyperoxaluria
Registry
Resource to Physicians: •Consulting •Education •Testing •Research
Resource to PH Patients + Families: •Education Referrals •Testing •Support
Research Studies
& Clinical Trials
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Mayo Clinic Hyperoxaluria Center
Inquiries to Center
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Post transplant recurrence study presenting at
Mayo Clinic, Rochester, Minnesota, USA
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