• Childhood Kidney Diseases
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• v.23 no.2
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• pp.59-66
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• 2019

Background: Primary hyperoxaluria (PH), a rare inborn error of glyoxylate meta bolism causing overproduction of oxalate, is classified into three genetic subgroups: type 1-3 (PH1-PH3) caused by AGXT, GRHPR, and HOGA1 gene mutations, respectively. We performed a retrospective case series study of Korean pediatric patients with PH. Methods: In total, 11 unrelated pediatric patients were recruited and their phenotypes and genotypes were analyzed by a retrospective review of their medical records. Results: Mutational analyses revealed biallelic AGXT mutations (PH1) in nine patients and a single heterozygous GRHPR and HOGA1 mutation in one patient each. The c.33dupC was the most common AGXT mutation with an allelic frequency of 44%. The median age of onset was 3 months (range, 2 months-3 years), and eight patients with PH1 presented with end stage renal disease (ESRD). Patients with two truncating mutations showed an earlier age of onset and more frequent retinal involvement than patients with one truncating mutation. Among eight PH1 patients presenting with ESRD, five patients were treated with intensive dialysis followed by liver transplantation (n=5) with/without subsequent kidney transplantation (n=3). Conclusion: Most patients presented with severe infantile forms of PH. Patients with two truncating mutations displayed more severe phenotypes than those of patients with one truncating mutation. Sequential liver and kidney transplantation was adopted for PH1 patients presenting with ESRD. A larger nation-wide multicenter study is needed to confirm the genotype-phenotype correlations and outcomes of organ transplantation.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.5 no.1
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• pp.27-32
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• 2005

• Journal of Preventive Medicine and Public Health
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• v.39 no.2
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• pp.165-170
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• 2006

Objectives : The determination of oxalate in urine is required for the diagnosis and treatment of primary hyperoxaluria, idiopathic stone disease and various intestinal diseases. We examined the possibility of using Fourier transform near-infrared (FT-NIR) spectroscopy analysis to quantitate urinary oxalate. The practical advantages of this method include ease of the sample preparation and operation technique, the absence of sample pre-treatments, rapid determination and noninvasiveness. Methods : The range of oxalate concentration in standard urine solutions was $0-221mg/{\ell}$. These 80 different samples were scanned in the region of 780-1,300 nm with a 0.5 nm data interval by a Spectrum One NTS FT-NIR spectrometer. PCR, PLSR and MLR regression models were used to calculate and evaluate the calibration equation. Results : The PCR and PLSR calibration models were obtained from the spectral data and they are exactly same. The standard error of estimation (SEE) and the % variance were $10.34mg/{\ell}$ and 97.86%, respectively. After full cross validation of this model, the standard error of estimation was $5,287mg/{\ell}$, which was much smaller than that of the pre-validation. Furthermore, the MCC (multiple correlation coefficient) was 0.998, which was compatible with the 0.923 or 0.999 obtained from the previous enzymatic methods. Conclusions : These results showed that FT-NIR spectroscopy can be used for rapid determination of the concentration of oxalate in human urine samples.