title: [A case of bilateral renal calculi in a 1-year-old female with adenine phosphoribosyl transferase partial deficiency].
abstract: We report a case of bilateral renal calculi in a 1-year-old female with adenine phosphoribosyl transferase (APRT) partial deficiency. She initially visited another institution with high fever as the major complaint. Computed tomography revealed a bilateral renal stone and left hydro nephrosis. In the urine, there were 2, 8-dihydroxyadenine (DHA) crystals. An analysis of the APRT gene revealed the APRT deficiency and the genotype to be APRT*J/APRT*Q0. We performed extracorporeal shock wave lithotripsy (ESWL) under general anesthesia, and as dissolution therapy we administered Meylon through the nephrostomy and citric acid orally. The stone disappeared from her kidney. The analysis of the stone fragments revealed 2,8- dihydroxyadenine (DHA) urolithiasis.
authors.affiliation: The Department of Urology, Kurashiki Central Hospital, Japan.
authors.forename: Shotaro
authors.initials: S
authors.lastname: Nakanishi
authors.forename: Ryoichi
authors.initials: R
authors.lastname: Saito
authors.forename: Kei
authors.initials: K
authors.lastname: Mizuno
authors.forename: Takashi
authors.initials: T
authors.lastname: Matsuoka
authors.forename: Yuki
authors.initials: Y
authors.lastname: Kita
authors.forename: Seiji
authors.initials: S
authors.lastname: Asai
authors.forename: Rikiya
authors.initials: R
authors.lastname: Taoka
authors.forename: Takeshi
authors.initials: T
authors.lastname: Soda
authors.forename: Koji
authors.initials: K
authors.lastname: Inoue
authors.forename: Akito
authors.initials: A
authors.lastname: Terai
mesh_terms: D000228:Adenine Phosphoribosyltransferase / Q000172:deficiency* / Q000235:genetics; D019343:Citric Acid / Q000008:administration & dosage; D005260:Female; D006801:Humans; D007223:Infant; D007669:Kidney Calculi / Q000150:complications* / Q000628:therapy; D008096:Lithotripsy
chemical_list: D019343:Citric Acid; D000228:Adenine Phosphoribosyltransferase