J Korean Med Sci.  2017 Feb;32(2):310-314. 10.3346/jkms.2017.32.2.310.

Genotype and Phenotype Analysis in Pediatric Patients with Cystinuria

• Kim JH
• Park E
• Hyun HS
• Lee BH
• Kim GH
• Lee JH
• Park YS
• Kang HG
• Ha IS
• Cheong HI

• KMID: 2364176
• DOI: http://doi.org/10.3346/jkms.2017.32.2.310

Abstract

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.

Keyword

Cystinuria; Genotype; Phenotype; Gene mutation; SLC3A1 Gene; SLC7A9 Gene

MeSH Terms

Age of Onset
Amino Acids, Diamino
Child
Chungcheongnam-do
Cystine
Cystinuria*
Diagnosis
Female
Follow-Up Studies
Genetic Association Studies
Genotype*
Humans
Korea
Male
Nephrolithiasis
Phenotype*
Renal Reabsorption
Retrospective Studies
Seoul
Amino Acids, Diamino
Cystine

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