Hypouricemia and tubular transport of uric acid.
نویسندگان
چکیده
Hypouricemia is defined when a serum urate concentration is less than or equal 2.0mg/dl. Differential diagnosis is made by fractional uric acid excretion with the identification of urate transporters and intracellular proteins involved in the tubular transport of uric acid. This review examines current knowledge on uric acid tubular transport and the various clinical situations of hypouricemia.
منابع مشابه
Mechanism of hypouricemia in Hodgkin's disease. Isolated defect in postsecretory reabsorption of uric acid.
We present a patient with hypouricemia associated with Hodgkin's disease. Serum uric acid level ranged from 1.4 to 2.2 mg/dl and fractional excretion of uric acid was 26.5%. No other renal tubular abnormalities were found. The pyrazinamide suppression test came off normal. However, during the benzbromarone test, the uricosuric response was reduced. The abnormal renal handling of urate became no...
متن کاملHomozygous SLC2A9 mutations cause severe renal hypouricemia.
Hereditary hypouricemia may result from mutations in the renal tubular uric acid transporter URAT1. Whether mutation of other uric acid transporters produces a similar phenotype is unknown. We studied two families who had severe hereditary hypouricemia and did not have a URAT1 defect. We performed a genome-wide homozygosity screen and linkage analysis and identified the candidate gene SLC2A9, w...
متن کاملHypouricemia and tubular transport of uric acid
La hipouricemia se diagnostica cuando los niveles plasmáticos de ácido úrico son menores o iguales a 2,0 mg/dl. El diagnóstico diferencial de la hipouricemia se realiza en función de la excreción fraccional de ácido úrico, y se han identificado varios transportadores y proteínas implicados en el manejo del ión urato en el túbulo proximal. En este artículo se revisan los conocimientos actuales s...
متن کاملRecurrent exercise-induced acute kidney injury by idiopathic renal hypouricemia with a novel mutation in the SLC2A9 gene and literature review
BACKGROUND Idiopathic renal hypouricemia (iRHUC) is an autosomal recessive hereditary disorder, characterized by impaired tubular uric acid transport, re-absorption insufficiency and/or the acceleration of secretions. Some patients present with severe complications, such as exercise-induced acute kidney injury (EIAKI) and nephrolithiasis. CASE PRESENTATION Herein, we report the case of a girl...
متن کاملFamilial hypouricaemia associated with renal tubular uricosuria and uric acid calculi: case report.
We describe a patient with the rare combination of uric acid calculi, familial hypouricaemia, and increased renal urate clearance.
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
- Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia
دوره 31 1 شماره
صفحات -
تاریخ انتشار 2011