Urolithiasis Due to Adenine Phosphoribosyl Transferase (APRT) Deficiency: A Case Report and Practical Recommendations in Children.

BACKGROUND

The rare metabolic disease, adenine phosphoribosyl transferase (APRT) deficiency, is asymptomatic in many cases until it is discovered in terminal renal failure. The most frequent complication is 2,8-dihydroxyadenine (2,8-DHA) urolithiasis. Stones, which are frequently bilateral and recurrent, appear in childhood in one-third of cases.

CASE REPORT: An 8-year-old girl presented with urinary tract infection and coralliform urolithiasis in the right kidney. Initial radiological examination showed emphysematous pyelonephritis stage 1 due to obstructive lithiasis. Stone analysis helped confirm the diagnosis of APRT deficiency.

DISCUSSION: The diagnostic difficulties, clinical manifestations, and the impact of early detection and management on preventing stone recurrence and complication were discussed. The therapeutic strategies available, including dietary modifications and allopurinol therapy, were reviewed.

CONCLUSIONS

Early intervention with therapeutic and dietetic measures could preserve the normal renal function of the young patient.