Hypo-uricémie rénale héréditaire chez un sujet d’origine caucasienne : présentation d’un cas clinique et revue de la littérature

Abstract

Hereditary renal hypouricemia is characterized by a decreased serum uric acid, a uric acid fractional excretion above normal and the absence of another cause of hyperuricosuric hypouricemia. This pathology, generally caused by a mutation of urate renal transporter URAT1, is relatively common in Asia, but occurs very infrequently in Caucasian populations. The disease's association with exercise-induced acute renal failure is well known. This article reports the case of a 47-year-old man of Italian origin who was diagnosed with hereditary renal hypouricemia after an episode of exercise-induced acute renal failure. Molecular analysis of SLC22A12 encoding URAT1 for renal hypouricemia using peripheral blood genomic DNA of the patient was performed. Single-strand conformation polymorphism screening, amplification, and direct sequencing of SLC22A12 revealed no mutation in this patient. This suggests that another gene can be involved in this disease.