Febuxostat for the Prevention of Recurrent 2,8-dihydroxyadenine Nephropathy due to Adenine Phosphoribosyltransferase Deficiency Following Kidney Transplantation

Koji Nanmoku; Akira Kurosawa; Takahiro Shinzato; Toshihiro Shimizu; Takaaki Kimura; Takashi Yagisawa

doi:10.2169/internalmedicine.56.8142

CASE REPORTS

Febuxostat for the Prevention of Recurrent 2,8-dihydroxyadenine Nephropathy due to Adenine Phosphoribosyltransferase Deficiency Following Kidney Transplantation

Koji Nanmoku, Akira Kurosawa, Takahiro Shinzato, Toshihiro Shimizu, Takaaki Kimura, Takashi Yagisawa

Author information

Keywords: adenine phosphoribosyltransferase deficiency, 2,8-dihydroxyadenine nephropathy, nephrolithiasis, xanthine dehydrogenase inhibitor, febuxostat, kidney transplantation

JOURNAL OPEN ACCESS

2017 Volume 56 Issue 11 Pages 1387-1391

DOI https://doi.org/10.2169/internalmedicine.56.8142

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Abstract

Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive disorder that results in irreversible renal damage due to 2,8-dihydroxyadenine (DHA) nephropathy. A 28-year-old man underwent living-related kidney transplantation for chronic kidney disease of unknown etiology. Numerous spherical brownish crystals observed in his urinary sediment on postoperative day 3 and were observed within the tubular lumen of renal allograft biopsy specimens on postoperative day 7. After a genetic diagnosis, febuxostat treatment was started on postoperative day 7, with the dosage gradually increased to 80 mg/day until complete the disappearance of 2,8-DHA crystals. Febuxostat prevented secondary 2,8-DHA nephropathy after kidney transplantation.

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