Evidence map›Paper›PMID 36576711›Full record

ArticleCEN case reports2023

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

Miyoko Kunou, Makoto Yamaguchi, Hirotake Takahashi, Yukihiro Kimura, Naoki Watanabe, Mayumi Ito, Hirokazu Sugiyama, Shiho Iwagaitsu, Hironobu Nobata, Hiroshi Kinashi and 4 more

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PubMed Full text at PMC Publisher
In one paragraph

Article in CEN case reports, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.3field-weighted citation impact, top 47% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

4 citing papers in PubMed, 3 citations in OpenAlex.

  1. Heat-KilledJournal of microbiology and biotechnology · 2026
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

14 authors at 2 institutions in 1 country.

Miyoko KunouDepartment of Nephrology, Gifu Municipal Hospital, Gifu, Japan.
Makoto YamaguchiDepartment of Nephrology and Rheumatology, Aichi Medical University, 1-1 Karimata, Yazako, Nagakute, 480-1195, Japan.
Hirotake TakahashiDepartment of Nephrology, Gifu Municipal Hospital, Gifu, Japan.
Yukihiro KimuraDepartment of Nephrology, Gifu Municipal Hospital, Gifu, Japan.
Naoki WatanabeDepartment of Diagnostic Pathology, Gifu Municipal Hospital, Gifu, Japan.
Mayumi ItoDepartment of Nephrology and Rheumatology, Aichi Medical University, 1-1 Karimata, Yazako, Nagakute, 480-1195, Japan.
Hirokazu SugiyamaDepartment of Nephrology and Rheumatology, Aichi Medical University, 1-1 Karimata, Yazako, Nagakute, 480-1195, Japan.
Shiho IwagaitsuDepartment of Nephrology and Rheumatology, Aichi Medical University, 1-1 Karimata, Yazako, Nagakute, 480-1195, Japan.
Hironobu NobataDepartment of Nephrology and Rheumatology, Aichi Medical University, 1-1 Karimata, Yazako, Nagakute, 480-1195, Japan.
Hiroshi KinashiDepartment of Nephrology and Rheumatology, Aichi Medical University, 1-1 Karimata, Yazako, Nagakute, 480-1195, Japan.
Takayuki KatsunoDepartment of Nephrology and Rheumatology, Aichi Medical University, 1-1 Karimata, Yazako, Nagakute, 480-1195, Japan.
Shogo BannoDepartment of Nephrology and Rheumatology, Aichi Medical University, 1-1 Karimata, Yazako, Nagakute, 480-1195, Japan.
Yasuhiko ItoDepartment of Nephrology and Rheumatology, Aichi Medical University, 1-1 Karimata, Yazako, Nagakute, 480-1195, Japan.
Takuji IshimotoDepartment of Nephrology and Rheumatology, Aichi Medical University, 1-1 Karimata, Yazako, Nagakute, 480-1195, Japan. ishimoto.takuji.352@mail.aichi-med-u.ac.jp.ORCID 0000-0002-9861-5331
Aichi Medical University · JPGifu Municipal Hospital · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

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.

Indexed as

Kidney CalculiRenal Insufficiency, ChronicUrolithiasisAdenine PhosphoribosyltransferaseAdultHumansMaleMetabolism, Inborn ErrorsAdenine Phosphoribosyltransferase2,8-Dihydroxyadenine crystal nephropathyAdenine phosphoribosyltransferase deficiencyXanthine oxidoreductase

Identifiers

PMID36576711
PMCPMC10393930
OpenAlexW4313236883

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.