Table 3.

Recommended Evaluations Following Initial Diagnosis in Individuals with APRT Deficiency

System/ConcernEvaluationComment
Renal Measurement of serum creatinine (&/or cystatin C) concentration
Urine screening for DHA crystalluria & albuminuria or proteinuria
Ultrasound or CT exam of kidneysTo assess kidney stone burden
Consider kidney biopsy.In persons w/↓ renal function &/or proteinuria
Eyes Consider ophthalmologic consultation.In those w/ocular or vision symptoms
Miscellaneous/
Other 		Consultation w/clinical geneticist &/or genetic counselor

DHA = 2,8-dihydroxyadenine

From: Adenine Phosphoribosyltransferase Deficiency

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