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Two families with compound heterozygosity for adenine phosphoribosyltransferase deficiency

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Abstract

Adenine phosphoribosyltransferase deficiency is a disorder in which 2,8-dihydroxyadenine (2,8-DHA) crystalluria is caused by a congenital deficiency in the enzyme adenine phosphoribosyltransferase (APRT). In most cases, APRT deficiency is caused by autosomal recessive inheritance of a homozygote of the mutant gene APRT*Q0 or APRT*J, but there are also some cases in which the disorder is caused by the compound heterozygote APRT*Q0 and APRT*J. In the patients described here, brown round crystals were found in their urinary sediment. Crystalluria was the first sign of APRT deficiency, thereafter confirmed by genetic screening for APRT*/Q0 and APRT*. We performed genetic screening for APRT*Q0 and APRT*J in two families and diagnosed three cases of APRT*Q0 /APRT*J compound heterozygote-type APRT deficiency. Genetic screening for APRT*Q0 and APRT*J of family members is effective for early diagnosis and early treatment for family members.

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References

  1. Greenwood MC, Dillon MJ, Simmonds HA, Barratt TM, Pincott JR, Metreweli C (1982) Renal failure due to 2,8-dihydroxyadenine urolithiasis. Eur J Pediatr 138:346–349

    Article  CAS  PubMed  Google Scholar 

  2. Thomas CB, Arnold WN, Kelley WN (1973) Human adenine phosphoribosyltransferase. J Biol Chem 248:2529–2535

    CAS  PubMed  Google Scholar 

  3. Tischfield JA, Ruddle FH (1974) Assignment of the gene for adenine phosphoribosyltransferase to human chromosome 16 by mouse-human cell hybridization. Proc Natl Acad Sci U S A 71:45–49

    Article  CAS  PubMed  Google Scholar 

  4. Higashimoto H, Ouchi A, Kawguchi R (1995) Detection of the three common mutations of adenine phosphoribosyltransferase deficiency among Japanese. Clin Chim Acta 234:1–10

    Article  CAS  PubMed  Google Scholar 

  5. Hidaka Y, Tarle SA, Fujimori S, Kamatani N, Kelly WN, Palella TD (1988) Human adenine phosphoribosyltransferase deficiency; demonstration of a single mutant allele common to the Japanese. J Clin Invest 81:945–950

    Article  CAS  PubMed  Google Scholar 

  6. Kamatani N, Kuroshima S, Yamanaka H, Nakashe S, Take H, Hakoda M (1990) Identification of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRT*J/APRT*Q0) leading to 2,8-dihydroxyadenine urolithiasis. Hum Genet 85:500–504

    CAS  PubMed  Google Scholar 

  7. Sahota A, Chen J, Asaki K, Takeuchi H, Stambrook PJ, Tischfield JA (1990) Identification of a common nonsense mutation in Japanese patients with type I adenine phosphoribosyltransferase deficiency. Nucleic Acid Res 18:5915–5916

    Article  CAS  PubMed  Google Scholar 

  8. Okai E, Yoshimura T, Yamane Y, Kamatani N (1992) An asymptomatic case of adenine phosphoribosyltransferase (APRT) deficiency (genotype: APRT*J/APRT*Q0): identification of 2,8-dihydroxyadenine (DHA) crystals in urine lead to the diagnosis. Jpn J Med Technol 41:1493–1497

    Google Scholar 

  9. Takeuchi H, Kaneko Y, Fujita J, Yoshida O (1993) Identification of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRT*J/APRT*Q0) leading to 2,8-dihydroxyadenine urolithiasis: review of the reported cases with 2,8-dihydroxyadenine stones in Japan. J Urol 149:824–826

    CAS  PubMed  Google Scholar 

  10. Yoshigoe F, Furuta N, Gotoh H, Ohnishi Y (1995) A case report of 2,8-dihydroxyadenine urolithiasis. Jpn J Clin Urol 49:408–410

    Google Scholar 

  11. Suzuki K, Kobayashi S, Kawamura K, Kuhara T, Ryuzo T (1997) Family study of 2,8-dihydroxyadenine stone formation: report of two cases of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRT*J/APRT*Q0). Int J Urol 4:304–306

    Article  CAS  PubMed  Google Scholar 

  12. Ohne T (1998) 2,8-Dihydroxyadenine urolithiasis due to partial deficiency of adenine phosphoribosyltransferase: a case report. Hinyokika Kiyo 44:725–728

    CAS  PubMed  Google Scholar 

  13. Shiba M, Shimizu K, Takatera H (2003) 2,8-Dihydroxyadenine (DHA) urolithiasis: a case report. Hinyokika Kiyo 49:497–499

    PubMed  Google Scholar 

  14. Komura T, Inagaki T, Koujimoto Y, Ohkawa T, Yasukawa S, Kitamura S, Tanaka Y (1992) 2,8-Dihydroxyadenine stone: a case report. Nishinihon J Urol 54:910–915

    Google Scholar 

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Authors and Affiliations

  1. Department of Pediatrics, Faculty of Medicine, Kagawa University, Mikicho 1750-1, Kitagun, Kagawa, 761-0793, Japan

    Takuma Iwaki, Ikuko Ohashi, Tomoko Nishida, Tadashi Imai & Susumu Itoh

  2. Maternal Perinatal Center, Faculty of Medicine, Kagawa University, Kitagun, Japan

    Takashi Kusaka

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  1. Takuma Iwaki
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  2. Takashi Kusaka
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  3. Ikuko Ohashi
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  4. Tomoko Nishida
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  5. Tadashi Imai
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  6. Susumu Itoh
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Correspondence to Takuma Iwaki.

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Iwaki, T., Kusaka, T., Ohashi, I. et al. Two families with compound heterozygosity for adenine phosphoribosyltransferase deficiency. Pediatr Nephrol 25, 1173–1176 (2010). https://doi.org/10.1007/s00467-009-1430-4

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  • DOI: https://doi.org/10.1007/s00467-009-1430-4

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