title: [Vesical uric acid lithiasis in a child with renal hypouricemia].
abstract: We report a 12-month-old boy with renal hypouricemia who presented with crying due to obstructing vesicourethral uric acid stones. Metabolic study revealed persistent acidic urine with normal blood pH, and hypouricemia (1.4-1.7 mg/dl) with an increased ratio of uric acid clearance to creatinine clearance (24-32 %). Pyrazinamide produced no response but the patient showed a positive response to benzbromarone. These findings were consistent with a presecretory defect. No other tubular dysfunctions, such as renal glycosuria, aminoaciduria or phosphaturia were found. The patient underwent surgical treatment and was subsequently treated with potassium citrate. After a 2-year follow-up, he remains asymptomatic, despite persistent hyperuricosuria. To our knowledge, this is the youngest reported case of renal hypouricemia and lithiasis.
authors.affiliation: Unidad de Nefrología, Hospital de San Rafael, Madrid, Spain.
authors.forename: E
authors.initials: E
authors.lastname: Martín Hernández
authors.forename: C
authors.initials: C
authors.lastname: Aparicio López
authors.forename: G
authors.initials: G
authors.lastname: Alvarez Calatayud
authors.forename: M A
authors.initials: MA
authors.lastname: García Herrera
mesh_terms: D006801:Humans; D007223:Infant; D007674:Kidney Diseases / Q000150:complications*; D008297:Male; D008659:Metabolic Diseases / Q000150:complications*; D014527:Uric Acid / Q000032:analysis / Q000378:metabolism*; D001744:Urinary Bladder Calculi / Q000737:chemistry / Q000209:etiology*
chemical_list: D014527:Uric Acid