論文

2011年10月

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

Hinyokika kiyo. Acta urologica Japonica
  • Shotaro Nakanishi
  • ,
  • Ryoichi Saito
  • ,
  • Kei Mizuno
  • ,
  • Takashi Matsuoka
  • ,
  • Yuki Kita
  • ,
  • Seiji Asai
  • ,
  • Rikiya Taoka
  • ,
  • Takeshi Soda
  • ,
  • Koji Inoue
  • ,
  • Akito Terai

57
10
開始ページ
551
終了ページ
4
記述言語
日本語
掲載種別
研究論文(学術雑誌)

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.

リンク情報
PubMed
https://www.ncbi.nlm.nih.gov/pubmed/22089152
ID情報
  • ISSN : 0018-1994
  • PubMed ID : 22089152

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