Triple Kidney Allograft Failure from Recurrent 2,8-Dha Nephropathy in Aprt Deficiency

Document Type

Conference Proceeding

Publication Date

5-1-2026

Publication Title

Am J Kidney Dis

Keywords

Urology & Nephrology

Abstract

Adenine phosphoribosyltransferase (APRT) deficiency is an autosomal recessive disorder causing excess renal excretion of poorly soluble 2,8 dihydroxyadenine (DHA), leading to stone formation, crystalline nephropathy, and progressive renal failure. Recurrence after kidney transplant (KT) is common. A 36-year-old female with ESRD at age 20 from DHA nephropathy— confirmed by biopsy and homozygous APRT mutation—received her first living-related (LRD) KT in 2011. Despite high-dose allopurinol, febuxostat, and adequate hydration, serial biopsies showed interstitial fibrosis and tubular atrophy (IFTA) with persistent DHA crystals, and the graft failed in July 2016. She underwent a second living-unrelated KT in September 2017. One year later, biopsy showed mild IFTA and rare crystals. In September 2021, after missed doses of allopurinol, febuxostat, and immunosuppression, she presented with rising creatinine; biopsy showed Banff IB rejection, IFTA, and recurrent crystals. Despite anti-thymocyte globulin, corticosteroids, and improved adherence, the graft failed in August 2022. She received a third LRD KT in December 2022. In November 2025, evaluation of worsening kidney function again showed recurrent DHA crystals and IFTA. Management relies on xanthine oxidase inhibitors (XOI) such as allopurinol or febuxostat to suppress DHA formation. Adequate hydration ( ≥ 2.5 L/day) and limiting purine-rich foods are recommended. Pre-transplant XOI therapy reduces recurrence—Runolfsdottir et al. reported 27% recurrence in treated patients versus 75% in untreated. Early initiation, optimal dosing, and strict adherence are essential for preserving graft function. This appears to be the first documented case of three sequential allograft failures from recurrent DHA nephropathy highlighting the challenge of maintaining long-term metabolic control even with appropriate XOI therapy.

Volume

87

Issue

5

First Page

S42

Find It @ Sladen

Share

COinS