A Case of Idiopathic Renal Hypouricemia with SLC22A12 Gene Mutation Showing General Weakness and Incidental Renal Stone
نویسندگان
چکیده
منابع مشابه
[A case of idiopathic renal hypouricemia].
Hypouricemia, as defined by serum uric acid levels less than 2.0 mg/dl, is rare in U.S.A, but it is relative in common in Japan. Hypouricemia occurs in various pathological conditions, including Wilsons disease, Fanconi syndrome, primary biliary cirrhosis and Sjõgrens syndrome as a result of renal tubular damage 1) . Idiopathic renal hypouricemia is a disorder characterized by impaired urate ha...
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...
متن کاملA Case of Exercise-induced Acute Renal Failure with G774A Mutation in SCL22A12 Causing Renal Hypouricemia
Acute renal failure with severe loin pain which develops after anaerobic exercise is rare. One of predisposing factors of exercise-induced acute renal failure is renal hypouricemia. Idiopathic renal hypouricemia is a genetic disorder characterized by hypouricemia with abnormally high renal tubular uric acid excretion. The mutation in SCL22A12 gene which encodes renal uric acid transporter, URAT...
متن کاملA Novel Homozygous SLC2A9 Mutation Associated with Renal-Induced Hypouricemia.
BACKGROUND Hereditary renal hypouricemia (RHUC) is a genetically heterogenous disorder characterized by defective uric acid (UA) reabsorption resulting in hypouricemia and increased fractional excretion of UA; acute kidney injury (AKI) and nephrolithiasis are recognized complications. Type 1 (RHUC1) is caused by mutations in the SLC22A12 gene, whereas RHUC2 is caused by mutations in the SLC2A9 ...
متن کاملA Novel Homozygous SLC2A9 Mutation Associated with Renal-Induced Hypouricemia
Background: Hereditary renal hypouricemia (RHUC) is a genetically heterogenous disorder characterized by defective uric acid (UA) reabsorption resulting in hypouricemia and increased fractional excretion of UA; acute kidney injury (AKI) and nephrolithiasis are recognized complications. Type 1 (RHUC1) is caused by mutations in the SLC22A12 gene, whereas RHUC2 is caused by mutations in the SLC2A9...
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ژورنال
عنوان ژورنال: Childhood Kidney Diseases
سال: 2021
ISSN: 2384-0242,2384-0250
DOI: 10.3339/jkspn.2021.25.1.44