A hereditary defect in renal tubular urate transport can result in hypouricemia.
Clinical features of hereditary renal hypouricemia:
(1) decreased serum uric acid concentration (< 2.0 mg/dL)
(2) increased fractional excretion of uric acid
(3) exclusion of other causes of hypouricemia
Additional findings may include:
(1) family history of RHUC
(2) history of exercise-induced acute kidney injury
(3) nephrolithiasis
|
Type
|
Gene
|
|
Type 1
|
SLC22A12 (URAT1)
|
|
Type 2
|
SLC2A9 (GLUT9)
|
