• Childhood Kidney Diseases
• /
• v.10 no.1
• /
• pp.65-71
• /
• 2006

Idiopathic renal hypouricemia is a disorder characterized by impaired urate handling in the renal tubules. Most patients with hypouricemia are asymptomatic and are found incidentally, but the condition is known to be at high risk for exercise-induced acute renal failure or urolithiasis. URAT1 protein encoded by SLC22A12 gene has been identified recently as a urate/anion exchanger in the human kidney. Inactivation mutations in SLC22A12 gene have been shown to cause renal idiopathic hypouricemia. We experienced a 3-year-old boy who presented with persistent orange-colored urine since infancy. His urine contained many uric acid crystals, while the serum showed hypouricemia(0.7 mg/dL). The fractional excretion of uric acid was increased to 41.7%. SLC22a12 gene analysis revealed W258X homozygote alleles. Renal hypouricemia must be included in the differential diagnosis of red-urine and SLC22A12 gene analysis is recommended in idiopathic renal hypouricemia.

• Childhood Kidney Diseases
• /
• v.25 no.1
• /
• pp.44-48
• /
• 2021

Idiopathic renal hypouricemia (iRHUC) is a rare hereditary disease caused by a defect in urate handling of renal tubules. Type 1 renal hypouricemia (RHUC1) is diagnosed with confirmation of a mutation in SLC22A12 gene which encodes a renal urate-anion exchanger (URAT1). The majority of iRHUC patients are asymptomatic, especially during childhood, and thus many cases go undiagnosed or they are diagnosed late in older age with complications of hematuria, renal stones, or acute kidney injury (AKI). We report a case of a 7-year-old boy with subtle symptoms such as general weakness and dizziness and revealed hypouricemia and incidental nephrolithiasis. Homozygous mutations were detected in the SLC22A12 (c.774G>A) by molecular analysis. The present case suggests that fractional excretion of uric acid (FEUA) screening could be better followed by the coincidental discovery of hypouricemia, to prevent conflicting complications of iRHUC, even with normal urine uric acid to creatinine ratio (U_UA/U_Cr), and sequential genetic analysis if needed.

• Journal of Periodontal and Implant Science
• /
• v.53 no.4
• /
• pp.283-294
• /
• 2023

Purpose: The aim of this study was to investigate the relationship between serum uric acid (SUA) levels and the risk of periodontitis in Korean adults using data from the Korean National Health and Nutrition Examination Survey (KNHANES). Methods: This cross-sectional study used data from the KNHANES 2016-2018 and analysed 12,735 Korean adults aged ≥19 years who underwent oral examinations. Hypouricemia was defined as SUA <3 mg/dL in men and <2 mg/dL in women, and hyperuricemia was defined as SUA ≥7 mg/dL in men and ≥6 mg/dL in women. Results: The weighted prevalence of hypouricemia and hyperuricemia was 0.6% and 12.9%, respectively. The overall weighted periodontitis rate was 30.5%. The frequency of periodontitis in subjects with hypouricemia, normouricemia, and hyperuricemia were 51.1%, 30.3%, and 30.6%, respectively. Study participants with hypouricemia were significantly older, had significantly fasting blood glucose levels, and had better kidney function than non-hypouricemic participants. In univariate logistic regression analyses, hypouricemia was associated with periodontitis, but hyperuricemia was not. The fully adjusted model revealed that the adjusted odds ratio of hypouricemia for periodontitis was 1.62 (95% confidence interval, 1.13-2.33), while the relationship between hyperuricemia and periodontitis in the multivariable logistic regression model was not significant. Conclusions: The results of this study suggest that hypouricemia is associated with an increased risk of periodontitis.

• Clinical and Experimental Pediatrics
• /
• v.50 no.5
• /
• pp.489-492
• /
• 2007

Idiopathic renal hypouricemia is a disorder characterized by impaired urate handling in the renal tubules. This disease usually produces no symptoms, but hematuria, uric acid nephrolithiasis or acute renal failure may develop. A defect in the SLC22A12 gene, which encodes the human urate transporter, is the known major cause of this disorder. We describe a 10-month-old boy with idiopathic renal hypouricemia. He was diagnosed with transient pseudohypoaldosteronism at admission, but hypouricemia was accidentally found through follow-up study. By gene analysis, his diagnosis was confirmed to idiopathic renal hypouricemia. In addition, we report a mutation in the human urate transporter 1 (hURAT1) gene identified in his family.

• Journal of Yeungnam Medical Science
• /
• v.29 no.2
• /
• pp.150-152
• /
• 2012

Acute renal failure with severe loin pain and patch renal ischemia after anaerobic exercise (ALPE) is a rare cause of exercise-induced acute kidney injury. Some ALPE patients also have renal hypouricemia. Mutations in the SCL22A12 gene are among the major factors of hypouricemia. Education for the prevention of relapse and genetic counseling should be recommended to ALPE patients with renal hypouricemia. This paper reports a 25-year-old man who showed recurrent exercise-induced ARF and renal hypouricemia with R90H mutation in his SCL22A12 gene.

• Journal of Digital Convergence
• /
• v.11 no.12
• /
• pp.615-620
• /
• 2013

This research is a data analysis result of a future gout treatment was carried out in order to take advantage of basic data by Planned Population Federation of Korea in 2012, classified by gender. Using SPSS 18.0 analysis, frequency analysis, chi-squared analysis and logistic regression analysis were conducted. As a result, there were exceptional number of male subjects that required hyperuricemia thorough complete examination, and in case of hypouricemia, it is notable to find much more female subjects (p<0.001). Subjects that required thorough complete examination per age group and hypouricemia were significantly higher in those above the age of 70 years(p<0.001). Conclusions that required hyperuricemia thorough complete examination were a bit higher in the city areas and hypouricemia was a bit higher in the county areas, hyperuricemia was a bit higher in ratio in inland areas and hypouricemia was a bit higher in ratio in the coastal areas. I believe that continuous observation of gout prevalence rate based on this research by year, age group, and gender, would be extremely useful in making decisions regarding the changing trend of gout prevalence rate. In addition, hyperuricemia increased in postmenopausal women, as well as research on the causes of hypouricemia study.