[Multiple calcium oxalate stone formation in a patient with glycogen storage disease type I (von Gierke's disease) and renal tubular acidosis type I: a case report].
A case of multiple urinary stones in a patient with glycogen storage disease type 1 (GSD-1) is reported. In spite of the presence of hyperuricemia, these stones did not consist of uric acid, but mainly of calcium oxalate. Laboratory studies revealed distal renal tubular acidosis and hypocitraturia, but no significant abnormality in calcium metabolism. We discussed the mechanism of calcium stone formation in our case, and its prophylactic treatment by oral administration of citrate compound.
Kanematsu
A
A
Department of Urology, National Himeji Hospital.
Segawa
T
T
Kakehi
Y
Y
Takeuchi
H
H
D000141:Acidosis, Renal Tubular / Q000150:complications*; D000328:Adult; D002118:Calcium / Q000378:metabolism; D002129:Calcium Oxalate / Q000032:analysis*; D005953:Glycogen Storage Disease Type I / Q000150:complications*; D006801:Humans; D008297:Male; D014545:Urinary Calculi / Q000737:chemistry / Q000378:metabolism*
D002129:Calcium Oxalate; D002118:Calcium