title: Calcium nephrolithiasis and distal tubular acidosis in type 1 glycogen storage disease.
abstract: A 36-year-old man was admitted to hospital due to right flank pain as a result of ureteral stones. He had been followed up for type 1 glycogen storage disease since the age of 11 years. He had four episodes of spontaneous stone birth during the previous 2 years, and each stone was composed mainly of calcium oxalate. Intravenous pyelography showed right hydronephrosis due to ureteral stones and bilateral multiple renal stones. We carried out transurethral ureterolithotripsy (TUL) on the right ureteral stones. The composition was a mixture of calcium oxalate and calcium phosphate. Laboratory evaluation demonstrated the association of distal renal tubular acidosis (RTA). These observations suggest that hypocitraturia and distal RTA are strongly correlated to recurrence of calcium nephrolithiasis. The patient's serum uric acid and urinary citrate excretion levels normalized after allopurinol and potassium citrate administration.
authors.affiliation: Department of Urology, Kurume University School of Medicine, Kurume, Japan. iidas@med.kurume-u.ac.jp
authors.forename: Shizuka
authors.initials: S
authors.lastname: Iida
authors.forename: Kei
authors.initials: K
authors.lastname: Matsuoka
authors.forename: Michiro
authors.initials: M
authors.lastname: Inoue
authors.forename: Katsuro
authors.initials: K
authors.lastname: Tomiyasu
authors.forename: Shinshi
authors.initials: S
authors.lastname: Noda
mesh_terms: D000141:Acidosis, Renal Tubular / Q000150:complications*; D000328:Adult; D002118:Calcium / Q000032:analysis; D005953:Glycogen Storage Disease Type I / Q000150:complications*; D006801:Humans; D007669:Kidney Calculi / Q000737:chemistry / Q000209:etiology*; D008297:Male
chemical_list: D002118:Calcium