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A case of 2,8-DHA crystalline nephropathy caused by adenine phosphoribosyltransferase deficiency: diagnosis and treatment

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Abstract

Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive disorder that leads to the accumulation of poorly soluble 2,8-dihydroxyadenine (DHA) in the kidneys, resulting in a variety of renal presentations including nephrolithiasis, acute kidney injury, and chronic kidney disease (CKD) caused by crystal nephropathy. Here, we report a case of a 43-year-old man with 2,8-DHA crystalline nephropathy caused by APRT deficiency strongly suspected by renal biopsy results and definitively diagnosed by a urine gas chromatography–mass spectrometry (GC/MS)-based plasma metabolomic assessment. This case represents the importance of awareness and recognition of the signs and symptoms of this rare condition and its progression to CKD, which can be prevented by the early administration of xanthine oxidoreductase inhibitors.

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Data sharing is not applicable to this article as no new data were created or analyzed in this study.

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Acknowledgements

We thank all medical staff from our department. Furthermore, we thank the staff who gave us the metabolomic findings at the Japan Clinical Metabolomics Institute.

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Authors and Affiliations

  1. Department of Nephrology, Gifu Municipal Hospital, Gifu, Japan

    Miyoko Kunou, Hirotake Takahashi & Yukihiro Kimura

  2. Department of Diagnostic Pathology, Gifu Municipal Hospital, Gifu, Japan

    Naoki Watanabe

  3. Department of Nephrology and Rheumatology, Aichi Medical University, 1-1 Karimata, Yazako, Nagakute, 480-1195, Japan

    Makoto Yamaguchi, Mayumi Ito, Hirokazu Sugiyama, Shiho Iwagaitsu, Hironobu Nobata, Hiroshi Kinashi, Takayuki Katsuno, Shogo Banno, Yasuhiko Ito & Takuji Ishimoto

  4. Department of Nephrology and Rheumatology, Aichi Medical Center, Okazaki, Aichi, Japan

    Takayuki Katsuno

Authors
  1. Miyoko Kunou
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  2. Makoto Yamaguchi
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  3. Hirotake Takahashi
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  11. Takayuki Katsuno
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  13. Yasuhiko Ito
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  14. Takuji Ishimoto
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Corresponding author

Correspondence to Takuji Ishimoto.

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Informed consent was obtained from the patient in this study.

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Supplementary Information

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13730_2022_768_MOESM1_ESM.tif

Supplementary file1 Supplementary Fig. 1 Glomeruli under immunofluorescence microscopy. The glomeruli were stained for immunoglobulin IgG, IgA, IgM, C3, C4, C1q, κ, and λ, respectively. No positive staining was observed (TIF 17034 KB)

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Kunou, M., Yamaguchi, M., Takahashi, H. et al. A case of 2,8-DHA crystalline nephropathy caused by adenine phosphoribosyltransferase deficiency: diagnosis and treatment. CEN Case Rep 12, 329–334 (2023). https://doi.org/10.1007/s13730-022-00768-1

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  • DOI: https://doi.org/10.1007/s13730-022-00768-1

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