East Japan Railway (Japan)

A case of renal hypouricemia type 1 associated with compound heterozygous URAT1/SLC22A12 variants A209V and F379L: clinical evidence for their pathogenic significance

Abstract Renal hypouricemia (RHUC) is an inherited renal tubular disorder characterized by low serum uric acid levels and excessive urinary uric acid excretion due to impaired urate reabsorption in proximal tubules. Type 1 RHUC (RHUC1) is caused by pathogenic variants in URAT1/SL...