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

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

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

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

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

Diagnosis Urinary organic acid profile Increased oxalate and glycolate excretions Urine oxalate 1.19mmol/l (0.013-0.090) Repeated 0.550 Urine calcium/creat ratio, urine phosphate and urate normal

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

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

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

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

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

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