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: Giuseppina Marra, Paolo Gilles Vercelloni, Alberto Edefonti, Gianantonio Manzoni, Maria Angela Pavesi, Giovanni Battista Fogazzi, Giuseppe Garigali, Lionel Mockel, Irene Ceballos Picot
• Journal: JIMD reports (JIMD Rep) Vol. 5 Pg. 45-8 ( 2012) ISSN: 2192-8304 [Print] United States
• PMID: 23430916 (Publication Type: Journal Article)