Early onset of stone diseases and primary hyperoxaluria.
A case of primary hyperoxaluria is presented. In a product of consanguinous marriage recurrent stone formation, nephrocalcinosis and increased urinary oxalate excretion revealed the diagnosis of hyperoxaluria. Diagnosis and treatment of primary hyperoxaluria are briefly reviewed and the importance of elevated urinary oxalate level in diagnosis is emphasized.
Topaloğlu
R
R
Department of Paediatric Nephrology, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
Bakkaloğlu
A
A
Saatçi
U
U
Beşbaş
N
N
D002129:Calcium Oxalate / Q000652:urine; D002648:Child; D003241:Consanguinity; D006801:Humans; D006960:Hyperoxaluria, Primary / Q000235:genetics*; D008297:Male; D010375:Pedigree; D014545:Urinary Calculi / Q000737:chemistry / Q000235:genetics*
D002129:Calcium Oxalate