• 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.

• 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.

• 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.

• 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.