1. Dr Fiona Hillis SpR Renal Unit, RHSC,Glasgow
Stones
Dr Fiona Hillis
SpR
Renal Unit, RHSC,Glasgow

2. J.K.
6 year old male
Admitted to surgical ward September 2008 with loin pain and haematuria
AXR multiple radiopaque calculi over both kidneys, right ureter and within bladder
Right sided ureteric stent noted

4. Further History Second of two children
No family history or renal disease
Parents in UK from Nepal on work permits
Previous admission in Nepal with pain – stent inserted
Diagnosed with renal calculi aged 2

5. Height and weight 0.4th centile (as mother)
BP normal
Examination normal
Cr 73
Bone profile normal, PTH normal, FBC normal

6. Imaging
Renal US confirmed calculi, loss of corticomedullary defintion bilaterally
Right kidney 50th centile, left 5th centile
No dilated ureters or renal pelvis dilatation

7. Diagnosis Urinary organic acid profile
Increased oxalate and glycolate excretions
Urine oxalate 1.19mmol/l ( )
Repeated 0.550
Urine calcium/creat ratio, urine phosphate and urate normal

8. OPC review Diagnosis discussed Liver biopsy arranged – results awaited
Awaiting GFR
Dietetic review

9. Primary Hyperoxaluria
Exceedingly rare
AR inheritance
Enzymatic defect in liver leads to increased oxalate in urine
Type 1 – alanine glyoxalate aminotransferase
Type 2 – glyoxalate reductase/d-glycerate dehydrogenase

10. Presentation Infantile – CRF, renal parenchymal oxalosis
Older children – recurrent renal colic – haematuria, UTI, obstruction
Type 1 more severe disease at early presenataion
1% cases of ESRF in children

11. Diagnosis Markedly increased urine excretion of oxalate
Types distinguished by urinary excretion of glycolate and L-glyceric acid
DNA analysis not currently a standard diagnostic procedure

12. Treatment Minimise renal oxalate deposition High urine output
Avoidance of high oxalate foods
Trial of high dose pyridoxine (co-enzyme of AGT)

13. Combined Liver Kidney Transplantation
Treatment of choice
Considered when liver biopsy confirms AGT deficiency
Isolated liver transplant if renal function around 30% or more
Sequential liver then kidney transplant option in infants and small children