[Hereditary renal hypouricemia in a Caucasian patient: a case report and review of the literature].
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.
Ouellet
Georges
G
Service de néphrologie, hôpital Maisonneuve-Rosemont, Montréal, Québec H1T 2M4, Canada.
Lin
Shih-Hua
SH
Nolin
Linda
L
Bonnardeaux
Alain
A
D058186:Acute Kidney Injury / Q000097:blood* / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D014527:Uric Acid / Q000097:blood*; D044465:White People
D014527:Uric Acid