Table 4.

Targeted Treatment for Prevention/Reduction of Kidney Stones in Individuals with APRT Deficiency

GoalTreatmentDosageConsiderationsOther
Reduction of renal DHA excretion 1Allopurinol 2, 3, 45-10 mg/kg/day (max dose: 800 mg/day) either 1x/day or in 2 divided dosesAllopurinol dose should not routinely be reduced in those w/impaired kidney function.Lifelong therapy w/allopurinol or febuxostat needed for all patients, even after kidney transplantation; allopurinol or febuxostat can improve kidney function, even in those w/advanced CKD.
Febuxostat 280 mg/day 5May be more efficacious than allopurinol 6. Febuxostat dose should not routinely be reduced in those w/impaired kidney function.
Reduction of urine DHA supersaturation & crystallizationAmple fluid intakeNAMay provide an adjunctive benefit to pharmacologic therapy

CKD = chronic kidney disease; DHA = 2,8-dihydroxyadenine; NA = not applicable

1.

There are no data to support dietary purine restriction as a treatment of this condition, particularly when treatment with allopurinol or febuxostat is used and urine DHA excretion is already very low.

2.

Both allopurinol and febuxostat are oxidoreductase inhibitors (XOR; xanthine dehydrogenase/oxidase).

3.

Generally effective and well tolerated

4.

Minimizes urinary DHA excretion and crystalluria, stone formation, crystal deposition in the kidney, and development of kidney failure [Bollée et al 2010, Edvardsson et al 2018, Runolfsdottir et al 2019a]

5.

No data are available on appropriate dosing for pediatric age groups.

6.

A comparison between allopurinol (400 mg/day) and febuxostat (80 mg/day) on urinary DHA excretion found that febuxostat was significantly more efficacious [Edvardsson et al 2018].

From: Adenine Phosphoribosyltransferase Deficiency

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