• Korean Journal of Plant Resources
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• v.25 no.5
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• pp.507-516
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• 2012

Kidney stones occur in approximately 1% of the population during their lifetime. Although the development of extracorporeal shock wave lithotripsy (SWL) has revolutionized the theraphy of urolithiasis, the rate of recurrence of urothiasis, the rate of recurrenece of stones after SWL is about 50% within 10 years, which still represents serious problems for patienes. So to clarify the mechanism of Urocalum, and QS (Quercus salicina Blume) extract in the treatment of urolithiasis. Rat calcium oxalate urolithiasis was induced by oral administration of ethylene glycol and the vitamin D3 analog alfacalcidol for 14 days and QS extract was given to rats. After the last administration, we measured in urine, serum and renal oxidative stress marker. Ethylene glycol and alfacalcidol treatment increased BUN, creatinine, uric acid and XO. This increase was significantly suppressed by the administration of QS extract. These finding suggest that the QS extract plays a role in the prevention of stone formation and recureence in urolithiasis.

• Annals of Pediatric Endocrinology and Metabolism
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• v.23 no.4
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• pp.229-234
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• 2018

X-linked hypophosphatemic rickets is caused by loss-of-function mutations in PHEX, which encodes a phosphate-regulating endopeptidase homolog. We report a 26-year-old man with X-linked hypophosphatemic rickets who showed decreased serum phosphate accompanied by bilateral genu valgum and short stature. He had received medical treatment with vitamin D (alfacalcidol) and phosphate from the age of 3 to 20 years. He underwent surgery due to valgus deformity at the age of 14 and 15. Targeted gene panel sequencing for Mendelian genes identified a nonsense mutation in PHEX (c.589C>T; p.Gln197Ter) and a mosaic pattern where only 38% of sequence reads showed the variant allele. This mutation was not found in his mother, who had a normal phenotype. This is a case of a sporadic nonsense mutation in PHEX and up to date, this is the first case of a mosaic mutation in PHEX in Korea.

• Journal of The Korean Society of Clinical Toxicology
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• v.17 no.1
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• pp.42-45
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• 2019

Dioscorea tokoro has long been used in Korean traditional medicine as a pain killer and anti-inflammatory agent. A 53-year-old male who consumed water that had been boiled with raw tubers of D. tokoro as tea presented with numbness and spasm of both hands and feet. Laboratory results showed hypocalcemia, hypoparathyroidism, and vitamin D insufficiency. During his hospital stay, colitis, acute kidney injury, and toxic encephalopathy developed. The patient received calcium gluconate intravenous infusion and oral calcium carbonate with alfacalcidol. His symptoms improved gradually, but hypocalcemia persisted despite the calcium supplementation. We suggest that ingestion of inappropriately prepared D. tokoro can cause symptomatic hypocalcemia in patients with unbalanced calcium homeostasis.

• Childhood Kidney Diseases
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• v.10 no.1
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• pp.58-64
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• 2006

In the clinical state of vitamin D deficiency, it is possible that associated phosphate depletion, parathyroid hormone excess, and hypocalcemia may all depress the proximal tubular reabsorption of bicarbonate, in addition to abnormal skeletal modeling or remodeling, Although nutritional rickets is considered a rare disease in developed countries nowadays, cases of vitamin D deficient rickets caused by various unhealthy lifestyles such as insufficient exposure to sunlight, breast feeding infants without giving vitamin D supplements, unbalanced vegetarian diets of breast feeding mothers, low-birth weight, and maternal deficiency of vitamin D or calcium are increasing. Here, we present the case of an 8 month old girl, who was completely breastfed without any weaning diet or infant vitamin supplements. She visited our emergency room with hypocalcemic seizure and subsequently was diagnosed with vitamin D deficient rickets accompanied by overt bone changes and proximal renal lobular acidosis. After intravenous(IV) and oral calcium replacement therapy(IV calcium gluconate injection 1 mEq/kg/day for 6 days, 2 mEq/kg/day for 4 days followed by oral calcium gluconate administration 4 g/day for 3 days) with vitamin D supplement(Alfacalcidol 0.5 mcg/day) during admission, serum calcium level was normalized with clinical improvement. Oral sodium bicarbonate(0.6 g/day) was administered from the $2^{nd}$ hospital day for 2 weeks, which normalized the serum bicarbonate(measured by $tCO_2$) level. Calcium and vitamin D replacement were continued for 2 weeks and 3 months each. After discontinuing medications, follow up laboratory findings showed good maintenance of serum calcium, alkaline phosphate and bicarbonate levels with complete improvement of bone X-ray findings.

• Childhood Kidney Diseases
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• v.18 no.2
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• pp.64-70
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• 2014

Purpose: The aims of this study were to assess the clinical and laboratory profiles of chronic kidney disease-mineral bone disorder (CKD-MBD) and to assess the effects of treatment of active vitamin D analogs on severe hyperparathyroidism (SHPT) in pediatric patients on chronic peritoneal dialysis. Methods: This is a retrospective study included 53 patients who had been undergoing dialysis for more than 1 year, between January 2003 and December 2012. Results: Even after treatment with phosphate binders and active vitamin D analogs, the $mean{\pm}standard$ deviation of the percentage of time during peritoneal dialysis that the patients' serum concentrations of phosphorus, corrected total calcium, and parathyroid hormone (PTH) fell within the Kidney Disease Outcomes Quality Initiative recommended ranges was $25.06{\pm}17.47%$, $53.30{\pm}23.03%$, and $11.52{\pm}9.51%$, respectively. Clinical symptoms or radiological signs of CKD-MBD were observed in 10 patients (18.9%). There were significant differences in percentage of time that the serum intact PTH concentration was outside of the recommended range between patients with and without symptoms or signs of CKD-MBD (below recommended range, $11.74{\pm}7.37%$ vs. $40.77{\pm}25.39%$, P <0.001; above the recommended range, $63.79{\pm}27.86%$ vs. $37.09{\pm}27.76%$, P =0.022). Of the 25 patients with SHPT, high-dose alfacalcidol treatment was required in 13 patients that controlled SHPT in 7 of these patients, without marked complications. Conclusion: Despite our efforts to manage CKD-MBD, patients' met the recommended ranges from relevant guidelines at a low frequency. The treatment of high-dose active vitamin D analogs was required in about half of the patients with SHPT and effective in about half of them.