Table 5.

Treatment of Manifestations in Individuals with APRT Deficiency

Manifestation/
Concern		TreatmentConsideration/Other
DHA kidney
stones 1 		Standard surgical managementIncl extracorporeal shock wave lithotripsy
CKD 2 Aggressive management of hypertensionConsider ACE inhibitors or angiotensin-receptor blockers in those w/proteinuria.
Standard reduction of cardiovascular risk factors
ESRD 3 DialysisIt is not known if patients on dialysis benefit from allopurinol &/or febuxostat therapy, unless a kidney transplant is planned.
Kidney transplantIn all patients: treatment w/allopurinol or febuxostat for ≥6 wks prior to transplantation, if possible 4. Lifelong therapy w/allopurinol or febuxostat post transplantation is required to prevent recurrent DHA crystal nephropathy in transplanted organ.

ACE = angiotensin-converting enzyme; CKD = chronic kidney disease; DHA = 2,8-dihydroxyadenine; ESRD = end-stage renal disease

1.

For prevention of new kidney stone formation, see Table 4.

2.

Including measures to relieve symptoms, control complications, and slow the progression of the disease (See the KDIGO CKD guideline.)

3.

Management of APRT deficiency in those with ESRD

4.

Author, unpublished observation

From: Adenine Phosphoribosyltransferase Deficiency

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