• Childhood Kidney Diseases
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• v.21 no.2
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• pp.47-52
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• 2017

Purpose: Renal ultrasonography has been widely used in children with renal disease. However, the relationship of renal echogenicity with renal pathology and function in children is not well known. Method: Ultrasound examination was performed in 75 patients undergoing renal biopsy for suspected renal disease in Konkuk University Medical Center from August 2005 to November 2015. We compared renal echogenicity to pathologic findings and renal function. Renal echogenicity was scored as 0 to 2 by comparing adjacent liver echogenicity. Three histologic characteristics were evaluated: glomerular changes, interstitial infiltration or fibrosis, and tubular atrophy. These were graded as 0 to 3, according to increasing severity. Laboratory results included urine albumin excretion and estimated glomerular filtration rate (eGFR). Results: Among pathologic findings, renal echogenicity revealed a positive correlation with interstitial infiltration or fibrosis (r=0.259, P=0.025), and with tubular atrophy (r=0.268, P=0.02). Renal echogenicity and glomerular changes were not correlated. Renal echogenicity showed a positive correlation with microalbuminuria (r=0.283, P=0.014), but a negative correlation with eGFR (r=-0.352, P=0.002). Conclusion: Increased renal echogenicity suggested severe interstitial infiltration or fibrosis and tubular atrophy among the pathologic findings. Moreover, increased echogenicity is correlated with increased urine albumin excretion and decreased eGFR. Echogenicity on ultrasonography is useful for determining the status of renal pathology and function.

• Journal of Genetic Medicine
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• v.15 no.1
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• pp.28-33
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• 2018

Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by the deficiency of ${\alpha}$-galactosidase A. Patients with classical FD present acroparesthesia, hypohidrosis, cornea verticillata, disseminated angiokeratoma, and microalbuminuria in childhood, and develop life-threatening renal, cardiac, and cerebrovascular complications typically after the fourth decade of life. To date, more than 700 mutations responsible for FD have been identified in the human GLA gene. Herein, we report a novel GLA mutation, c.1117_1141del25 (p.Gly373Profs*10), identified in an 11-year-old Korean boy with FD presenting early cardiac and neurologic manifestation and in other affected family members. The boy had acroparesthesia, hypohidrosis, cornea verticillata, and left ventricular hypertrophy. His mother and sister also had acroparesthesia. Two males on the mother's side had similar pain and died of unknown causes. The plasma ${\alpha}$-galactosidase A activity (4.1 nmol/hr/mg protein) of the patient was markedly lower than the mean value of the controls. The plasma level of globotriaosylsphingosine was elevated in the patient and all the carriers. We concluded the novel GLA mutation c.1117_1141del25 is a pathogenic mutation for FD, probably related to the early cardiac manifestation of FD.

• Journal of the Korea Academia-Industrial cooperation Society
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• v.21 no.4
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• pp.226-235
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• 2020

This study was undertaken to investigate factors that affect the assessment of complications in diabetic eye and kidney diseases. Data was obtained from the National Community Health Survey, 2017. The subjects included were 25,829 respondents who had been diagnosed with diabetes. Logistic regression analysis was applied to determine the factors affecting associated diabetic eye disease (fundus examination) and kidney disease (microalbuminuria examination) complications. The diabetic eye disease complication rate was 35.6%, and diabetic kidney disease complication rate was 39.8%. Complications arising due to diabetes were determined to be 35.6% for eye diseases and 39.8% for kidney related diseases. Ed. Notes: The original sentence is not very lucid. I have suggested an alternate edit. I leave it to the author's discretion to accept or reject the same. Please delete whichever sentence is not suitable. Walking activity (OR=1.03, OR=1.02), hemoglobin A1c (HbA1c) recognition (OR=2.33, OR=2.33), blood glucose level recognition (OR=1.61, OR=1.71), diabetes drug therapy (OR=2.67, OR=3.05), and diabetic management education (OR=1.45, OR=1.47) were more likely to be evaluated for eye and kidney disease complications. Our results indicate that to increase the rate of screening for diabetic complications, it is necessary to develop a diabetes management system that includes the type and timing of diabetic complications, as well as different promotional methods that recognize HbA1C and blood glucose levels. Ed. Notes: Do you mean 'screening' methods? Please revise appropriately, if required. In addition, it is essential to develop a guideline for the management of diabetes mellitus, and to incorporate a screening test for diabetic complications in the national screening system.

• Korean Journal of Clinical Laboratory Science
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• v.38 no.3
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• pp.208-211
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• 2006

Microalbuminuria is most frequently caused by kidney damage from diabetes. Moreover, many other conditions can lead to kidney damage, such as high blood pressure, heart failure, cirrhosis, or systemic lupus erythematosus (SLE). The measurement of the microalbumin in urine may be useful for the early diagnosis or as a predictor of nephropathy in diabetes. The most common method for getting a quantitative measurement of urinary protein relies on a 24-hour urine collection. The result of this method is accurate. But 24hr urine collection is difficult to obtain and variations in volume are frequent. Also the patients complain about urine collection. We tried to measure reference values for microalbumin using fasting urine and compare them with the albumin/creatinine ratio using 24hr urine. The concentrations of microalbumin in fasting urine and 24hr urine were $7.1{\pm}3.8mg/L$, $5.7{\pm}2.9mg/L$ (r=0.61, p=0.27), respectively. The albumin/creatinine ratios using fasting urine and 24hr urine were $8.7{\pm}4.2{\mu}g/mg$, $8.7{\pm}4.0{\mu}g/mg$ (r=0.76, p=0.88), respectively. This study indicated that the measurement of microalbumin in fasting urine was an easy and simple method for early diagnosis or to predict nephropathy in diabetes. Thus, setting up the reference value using fasting urine may be useful in the screening test for the diabetic nephropathy patients instead of using the 24hr albumin excretion rate (AER).