A Japanese boy with adenine phosphoribosyltransferase (APRT) deficiency caused by compound heterozygosity including a novel missense mutation in APRT gene
Article first published online: 17 JUN 2011
© 2011 The Author(s)/Acta Pædiatrica © 2011 Foundation Acta Pædiatrica
Volume 100, Issue 12, pages e285–e288, December 2011
How to Cite
Nozue, H., Kamoda, T., Saitoh, H., Ichikawa, K. and Taniguchi, A. (2011), A Japanese boy with adenine phosphoribosyltransferase (APRT) deficiency caused by compound heterozygosity including a novel missense mutation in APRT gene. Acta Paediatrica, 100: e285–e288. doi: 10.1111/j.1651-2227.2011.02371.x
- Issue published online: 8 NOV 2011
- Article first published online: 17 JUN 2011
- Accepted manuscript online: 2 JUN 2011 11:13AM EST
- Received 7 February 2011; revised 22 May 2011; accepted 30 May 2011.
- Adenine phosphoribosyltransferase deficiency;
We describe a 2-year-old Japanese boy with radiolucent urolithiasis and recurrent urinary tract infection. Urinalysis showed typical 2,8-dihydroxyadenine (2,8-DHA) crystals, leading to a diagnosis as adenine phosphoribosyltransferase (APRT) deficiency. The sensitivity of proliferating T cells to an adenine analogue, whose cytotoxicity is dependent on APRT, showed that he was homozygous or compound heterozygous for the APRT gene mutation. A genetic analysis revealed a compound heterozygous state for M136T and a novel missense mutation L33P, not previously reported in patients with APRT deficiency.
Conclusion: Adenine phosphoribosyltransferase deficiency should be suspected in all patients with radiolucent kidney stones, urinary 2,8-DHA crystals were an important finding for an early diagnosis of APRT deficiency. Appropriate treatment should be initiated to prevent the development of urolithiasis or renal failure in APRT-deficient children. The T cell method was useful to detect a homozygote or a compound heterozygote of the pathogenic allelic gene in APRT deficiency, and a genetic analysis revealed a novel mutation L33P.