[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 APRTJ/APRTQ0. 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	Shotaro Nakanishi, Ryoichi Saito, Kei Mizuno, Takashi Matsuoka, Yuki Kita, Seiji Asai, Rikiya Taoka, Takeshi Soda, Koji Inoue, Akito Terai
Journal	Hinyokika kiyo. Acta urologica Japonica (Hinyokika Kiyo) Vol. 57 Issue 10 Pg. 551-4 (Oct 2011) ISSN: 0018-1994 [Print] Japan
PMID	22089152 (Publication Type: Case Reports, English Abstract, Journal Article)
Chemical References	Citric Acid Adenine Phosphoribosyltransferase
Topics	Adenine Phosphoribosyltransferase (deficiency, genetics) Citric Acid (administration & dosage) Female Humans Infant Kidney Calculi (complications, therapy) Lithotripsy

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