지속적인 주황색 소변을 보인 URAT1 유전자 변이 신성 저요산혈증 1례
A Case of Idiopathic Renal Hypouricemia with URAT1 Gene Mutation who Showed Persistent Orange-colored Urine
0
조회
0
다운로드
3
인용
0
참고문헌
초록
저자들은 영아기부터 지속되는 주황색 소변을 보인 3세 남아에서 저요산혈증이 있었고 SLC22A12 유전자 검사를 시행한 결과 URAT1 유전자의 W258X 동형접합자(homozygote) 변이를 발견하였기에 보고한다.
Abstract
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.
참고문헌 (24)
- Wu X, "Two independent mutational events in the loss of urate oxidase during hominoid evolution", 34, pp.78~84 (1992)
- Ohta T, "Exercise-induced acute renal failure associated with renal hypouricaemia:results of a questionnaire-based survey in Japan", 19, pp.1447~1453 (2004)
- Hirasaki S, "Two cases of renal hypouricemia with nephrolithiasis", 36, pp.201~205 (1997)
- Enomoto A, "Molecular identification of a renal urate-anion exchanger that regulates blood urate levels", 417, pp.447~452 (2002)
- Iwai N, "A high prevalence of renal hypouricemia caused by inactive SLC22A12 in Japanese", 66, pp.935~944 (2004)
- Pritchard JB, "Mechanisms mediating renal secretion of organic anions and cations", 73, pp.765~96 (1993)
- Sperling O, "Renal hypouricemia:classification,tubular defect and clinical consequences", 100, pp.1~14 (1992)
- Roch-Ramel F, "Effects of uricosuric and antiuricosuric agents on urate transport in human brushborder membrane vesicles", 280, pp.839~845 (1997)
- Roch-Ramel F, "Renal transport of urate in humans", 14, pp.80~84 (1999)
- Ichida K, "Clinical and molecular analysis of patients with renal hypouricemia in Japan-influence of URAT1 gene on urinary urate excretion", 15, pp.164~173 (2004)
- Sekine T, "The multispecific organic anion transporter(OAT)family", 440, pp.337~350 (2000)
- Komoda F, "The W258X mutation in SLC22A12 is the predominant cause of Japanese renal hypouricemia", 19, pp.728~733 (2004)
- Tanaka M, "Two male siblings with hereditary renal hypouricemia and exercise-Induced ARF", 42, pp.1287~1292 (2003)
- Cheong HI, "Mutational analysis of idiopathic renal hypouricemia in Korea", 20, pp.886~890 (2005)
- Sorensen LB, "Isolated defect in postsecretory reabsorption of uric acid", 39, pp.180~3 (1980)
- Tofuku Y, "Hypouricemia due to renal urate wasting", 30, pp.39~44 (1982)
- Ishikawa I, "Acute renal failure with severe loin pain and patchy renal ischaemia after anaerobic exercise in a father and child with URAT1 mutations beyond the W258X mutation", 20 (2005)
- Hisatome I, "Hematuria in patients with renal hypouricemia", 37, pp.40~46 (1998)
- Yuen JY, "Renal hypouricemia:prevention of exercise-induced acute renal failure and a review of the literature", 25, pp.937~946 (1995)
- Murakami T, "Recurrence of acute renal failure and renal hypouricemia", 7, pp.772~3 (1993)
- Kihara M, "Acute renal failure after a mild physical exercise in idiopathic renal hypouricaemia", 8, pp.1384~6 (1993)
- Watanabe T, "Exercise-induced acute renal failure in a patient with renal hypouricemia", 14, pp.851~852 (2000)
- Grover PK, "Effect of urate on calcium oxalate crystallization in human urine:evidence for a promotory role of hyperuricosuria in urolithiasis", 79, pp.9~15 (1990)
- Cheong HI, "The prevalence of hypouricemia and SLC22A12 gene mutation in Korea", pp.S167~ (2005), The Korean society of nephrology