Acute renal failure with severe loin pain and patchy renal ischaemia after anaerobic exercise (ALPE) (exercise-induced acute renal failure) in a father and child with URAT1 mutations beyond the W258X mutation

Acute renal failure with severe loin pain and patchy renal ischaemia after anaerobic exercise (ALPE) (exercise-induced acute renal failure) in a father and child with URAT1 mutations beyond the W258X mutation Sir, ALPE is defined as (i) acute renal dysfunction or failure due to (ii) anaerobic exercise, accompanied by (iii) loin pain and (iv) normal or only slight elevation of creatine phosphokinase or serum myoglobin It has been reported that 51% of ALPE cases involve patients with renal hypouricaemia After cloning of the SLC22A12 gene (URTA1: uric acid transporter 1) [3], seven renal hypouricaemic patients with exercise-induced acute renal failure were analysed for mutations of URAT1 Five patients were homozygotes for W258X, one patient was a heterozygote for W258X and one patient was a compound heterozygote for W258X/Q297X