Genetic heterogeneity of familial hypouricemia due to isolated renal tubular defect
نویسندگان
چکیده
منابع مشابه
A congenital renal tubular defect.
Waring, Kajdi and Tappan (1945) described six cases of severe polyuria and polydipsia which showed no response to pitressin therapy. The onset was after birth and the main features were erratic fever, constipation, vomiting and hyper-electrolytaemia without acidosis. The urine was constantly of low specific gravity, and in spite of high fluid intakes it was difficult to maintain hydration. Pitr...
متن کاملRenal tubular acidosis due to oxaliplatin.
Oxaliplatin is a third-generation platinum derivative which in combination with a fluoropyrimidine has demonstrated improved overall survival in metastatic colon cancer [1], prolonged progression free survival in an adjuvant setting [2] and prompted recommendations for its use by the National Institute for Clinical Excellence [3]. Initial studies with oxaliplatin did not identify significant re...
متن کاملHypouricemia and tubular transport of uric acid.
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.
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 کاملA Case Report of Familial Renal Hypouricemia Confirmed by Genotyping of SLC22A12, and a Literature Review.
A 24-year-old male visited our hospital because of pain in both flanks. His biochemistry profile showed an elevated serum creatinine level and low serum uric acid level. History taking revealed that he had undertaken exercise prior to the acute kidney injury (AKI) event, and he stated that family members had a history of urolithiasis. His renal profile improved after hydration and supportive ca...
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ژورنال
عنوان ژورنال: Japanese Journal of Human Genetics
سال: 1981
ISSN: 0021-5074
DOI: 10.1007/bf01896136