ReviewInternational urology and nephrology2025
Adenine phosphoribosyltransferase (APRT) deficiency: an increasingly recognized disease.
Review in International urology and nephrology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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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.
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Who cites it
2 citing papers in PubMed.
- Urolithiasis in Children-Clinical Picture, Pathogenesis, and Diagnostic Approach.Biomolecules · 2026Review
- Identification and validation for biomarkers associated with mitochondrial metabolism in chronic obstructive pulmonary disease.Frontiers in medicine · 2025Article
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Authors and funding
7 authors.
Funding
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Abstract
Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive disorder which causes high urinary 2,8-dihydroxyadenine (2,8-DHA) excretion, resulting in urolithiasis and crystal nephropathy. It is caused by mutations in the APRT gene. Even though it is an inherited kidney stone disease, the varied clinical presentations, even within a family with the same underlying genetic variants, can lead to delayed diagnosis with some only being recognized in adulthood and even, following a kidney transplant. First presentations include symptoms of reddish-brown diaper stains, urinary tract infections, urolithiasis, acute kidney injury from obstructive uropathy and/or intratubular 2,8-DHA crystallization or kidney failure. Siblings of index cases should be screened for APRT deficiency. An early diagnosis and treatment with xanthine oxidoreductase inhibitors (XORi) can preserve kidney function and/or prevent progressive kidney injury and kidney failure. In this review, we will discuss the pathophysiology, clinical presentations, investigations, and management of APRT deficiency.
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