A case of bilateral renal calculi in a 1-year-old female with adenine phosphoribosyl transferase partial deficiency

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 th...

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Published inHinyokika kiyo. Acta urologica Japonica Vol. 57; no. 10; pp. 551 - 554
Main Authors Nakanishi, Shotaro, Saito, Ryoichi, Mizuno, Kei, Matsuoka, Takashi, Kita, Yuki, Asai, Seiji, Taoka, Rikiya, Soda, Takeshi, Inoue, Koji, Terai, Akito
Format Journal Article
LanguageJapanese
Published Japan 01.10.2011
Subjects
Adenine Phosphoribosyltransferase - deficiency
Adenine Phosphoribosyltransferase - genetics
Citric Acid - administration & dosage
Female
Humans
Infant
Kidney Calculi - complications
Kidney Calculi - therapy
Lithotripsy
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Summary: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.
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ISSN:0018-1994