• Childhood Kidney Diseases
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• 제10권1호
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• pp.65-71
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• 2006

저자들은 영아기부터 지속되는 주황색 소변을 보인 3세 남아에서 저요산혈증이 있었고 SLC22A12 유전자 검사를 시행한 결과 URAT1 유전자의 W258X 동형접합자(homozygote) 변이를 발견하였기에 보고한다.

• Childhood Kidney Diseases
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• 제25권1호
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• pp.44-48
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• 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
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• 제53권4호
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• pp.283-294
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• 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
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• 제50권5호
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• pp.489-492
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• 2007

신성 저요산혈증은 신장에서 요산의 배설이 증가하는 것으로 무증상이거나 이차적으로 혈뇨, 요로결석, 신부전 등을 일으킬 수 있다. 저자들은 가성저알도스테론혈증으로 진단된 환아의 추적검사에서 추가적으로 신성 저요산혈증을 진단하고 환아 및 가족의 유전자검사를 통해 hURAT1 유전자의 R90H, W258X 이형접합자 변이를 확인하였기에 문헌고찰과 함께 보고하는 바이다.

• Journal of Yeungnam Medical Science
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• 제29권2호
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• pp.150-152
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• 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.

• 디지털융복합연구
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• 제11권12호
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• pp.615-620
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• 2013

이 연구은 2012년 인구보건복지협회가 검진한 일개도 통풍검사 결과를 성별을 구분하여 자료를 분석한 결과로 추후 통풍환자관리에 있어 기초 자료로 활용하기 위해 실시되었다. 분석은 SPSS 18.0을 이용하여 빈도분석, 카이제곱 분석 및 로지스틱 회귀분석을 실시하였다. 그 결과, 고요산혈증으로 정밀검사를 요하는 수진자는 남자가 월등히 많았고, 저요산혈증은 여자가 유의하게 많게 나타났다(p<0.001). 연령별 정밀검사를 요하는 수진자 및 저요산혈증은 70세 이상이 유의하게 가장 많았다(p<0.001). 고요산혈증으로 정밀검사를 요하는 수진자는 시지역이 저요산혈증은 군지역이 약간 높았으며, 고요산혈증은 내륙지역이 저요산혈증은 해안지역 약간 높은 비율이 나타났다. 이 조사를 토대로 하여 연도별, 연령별, 성별 통풍 유병률을 지속적으로 관찰한다면 통풍의 유병률 변화추세를 판단하기에는 상당히 유용할 것이며, 유소견자로 판정된 사람에 대한 추후관리 서비스 제공 및 폐경 후 여성에서 증가하는 고요산혈증 연구뿐만 아니라 저요산혈증의 원인에 대한 연구가 필요하다.