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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2017.1
- 수록면
- 310 - 314 (5page)
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Cystinuria is an inherited disorder characterized by defective renal reabsorption of cystine and dibasic amino acids leading to nephrolithiasis. This study was conducted to analyze the genotypes and phenotypes of pediatric patients with cystinuria. Eight children from Seoul National University Hospital and Asan Medical Center presenting with cystinuria from January 2003 to June 2016 were retrospectively analyzed. Mutational studies were performed by direct sequencing. Two of the 8 were male and 6 were female. The median ages at onset and diagnosis were 1.5 (range, 0.3–13.6) and 2.6 (range, 0.7–16.7) years, respectively. The median followed up was 7.7 (range, 3.4–14.0) years. Mutational analyses were performed in 7 patients and revealed biallelic SLC3A1 mutations (AA genotype) in 4 patients, a single heterozygous SLC3A1 mutation (A- genotype) in 1 patient, biallelic SLC7A9 mutations (BB genotype) in 1 patient, and a single heterozygous SLC7A9 mutation (B- genotype) in 1 patient. Two of the mutations were novel. No genotype-phenotype correlations were observed, except for earlier onset age in patients with non-AA genotypes than in patients with the AA genotype. All patients suffered from recurrent attacks of symptomatic nephrolithiasis, which lead to urologic interventions. At the last follow-up, 3 patients had a mild-to-moderate degree of renal dysfunction. This is the first study of genotypic and phenotypic analyses of patients with cystinuria in Korea.
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참고문헌 (27)
참고문헌 신청
Eggermann T / 2012 / Cystinuria : an inborn cause of urolithiasis / Orphanet J Rare Dis 7:19
Palacín M / 2001 / The molecular bases of cystinuria and lysinuric protein intolerance / Curr Opin Genet Dev 11:328~335
Moe OW / 2006 / Kidney stones : pathophysiology and medical management / Lancet 367:333~344
Knoll T / 2005 / Cystinuria in childhood and adolescence: recommendations for diagnosis, treatment, and follow-up / Pediatr Nephrol 20:19~24
Claes DJ / 2012 / Cystinuria : mechanisms and management / Pediatr Nephrol 27:2031~2038
Palacín M / 2001 / The molecular bases of cystinuria and lysinuric protein intolerance / Curr Opin Genet Dev 11:328~335
Moe OW / 2006 / Kidney stones : pathophysiology and medical management / Lancet 367:333~344
Knoll T / 2005 / Cystinuria in childhood and adolescence: recommendations for diagnosis, treatment, and follow-up / Pediatr Nephrol 20:19~24
Claes DJ / 2012 / Cystinuria : mechanisms and management / Pediatr Nephrol 27:2031~2038
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