Renal hypouricemia in a recipient of living-donor kidney transplantation: a case report and literature review

Donor-Derived Hereditary Renal Hypouricemia

“…Few successful kidney transplants from donors having RHUC 1 (URAT1 mutation) have been documented mostly from Japanese population 3 , 4 , 5 ( Table 1 ). Most of the recipients developed hypouricemia posttransplant with high FeUA levels; however, none had exercise-induced acute kidney injury or nephrolithiasis.…”

“… 4 , 2020 0.8 NA SLC22A12 c.266G>A; (p.Arg89His) and c.541C>G; (p.Leu181Val) in compound heterozygous state 2 recipients – patient 1 maintains Cr 0.9 mg/dl, uric acid 1.1 mg/dl, FeUA 44% patient 2 Cr 0.9 mg/dl, Cr 0.8, FeUA 75% Takamasa Miyauchi et al. 5 , 2021 0.6 59.7% SCL22A12 A homozygous variant resulting in Tyr258∗ (variant details not mentioned) No exercise induced AKI At 9 mo, Cr 0.95, serum UA is 1 mg/dl and FEUA is 55% Index case 0.3 95% SLC2A9 c.1004T>A; (p.Ile335Asn) and c.1138C>T; (p.Arg380Trp) in compound heterozygous state At 3 mo posttransplant, serum uric acid is 0.6 mg/dl and FeUA is 38%, no EI-AKI or urolithiasis Donor Cr 0.8 mg/dl and SUA is 0.4 mg/dl AKI, acute kidney injury; Cr, creatinine; EI, exercise-induced; FeUA, fractional excretion of uric acid; RHUC, renal hypouricemia; SUA, serum uric acid; UA, uric acid. …”