title: Adenine phosphoribosyltransferase deficiency: an underdiagnosed cause of lithiasis and renal failure.
abstract: We describe an infant affected by adenine phosphoribosyltransferase (APRT) deficiency diagnosed at 18 months of age with a de novo mutation that has not been previously reported. APRT deficiency is a rare defect of uric acid catabolism that leads to the accumulation of 2,8 dihydroxyadenine (2,8-DHA), a highly insoluble substance excreted by the kidneys that may precipitate in urine and form stones. The child suffered from renal colic due to a stone found in the peno-scrotal junction of the bulbar urethra. Stone spectrophotometric analysis allowed us to diagnose the disease and start kidney-saving therapy in order to avoid irreversible chronic kidney damage. APRT deficiency should always be considered in the differential diagnosis of pediatric urolithiasis.
authors: Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, UO Pediatric Nephrology, Via Commenda 9, 20122, Milano, Italy, gimarra@hotmail.com.
authors: Giuseppina
authors: G
authors: Marra
authors: Paolo Gilles
authors: PG
authors: Vercelloni
authors: Alberto
authors: A
authors: Edefonti
authors: Gianantonio
authors: G
authors: Manzoni
authors: Maria Angela
authors: MA
authors: Pavesi
authors: Giovanni Battista
authors: GB
authors: Fogazzi
authors: Giuseppe
authors: G
authors: Garigali
authors: Lionel
authors: L
authors: Mockel
authors: Irene Ceballos
authors: IC
authors: Picot