• Clinical and Experimental Pediatrics
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• v.54 no.1
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• pp.36-39
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• 2011

Bartter syndrome (BS) is a clinically and genetically heterogeneous inherited renal tubular disorder characterized by renal salt wasting, hypokalemic metabolic alkalosis and normotensive hyperreninemic hyperaldosteronism. There have been several case reports of BS complicated by focal segmental glomerulosclerosis (FSGS). Here, we have reported the case of a BS patient who developed FSGS and subsequent end-stage renal disease (ESRD) and provided a brief literature review. The patient presented with classic BS at 3 months of age and developed proteinuria at 7 years. Renal biopsy performed at 11 years of age revealed a FSGS perihilar variant. Hemodialysis was initiated at 11 years of age, and kidney transplantation was performed at 16 years of age. The post-transplantation course has been uneventful for more than 3 years with complete disappearance of BS without the recurrence of FSGS. Genetic study revealed a homozygous p.Trp(TGG)610Stop(TGA) mutation in the CLCNKB gene. In summary, BS may be complicated by secondary FSGS due to the adaptive response to chronic salt-losing nephropathy, and FSGS may progress to ESRD in some patients. Renal transplantation in patients with BS and ESRD results in complete remission of BS.

• Clinical and Experimental Pediatrics
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• v.45 no.3
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• pp.413-417
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• 2002

Gitelman's syndrome is an autosomal recessive disorder characterized by hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalciuria that has recently been reported to be linked to thiazide- sensitive Na-Cl cotransporter gene mutation. In this study, we performed renal clearance studies to differentiate Gitelman's from Bartter's syndrome and to confirm the diagnosis in two patients clinically diagnosed with Gitelman's syndrome. Each patient was hydrated by 20 mL/kg body weight of oral water within 30 minutes, which was followed by intravenous half saline. When urinary flow reached 10 mL/min, samples of urine and serum were obtained to calculate the osmolar clearance, free water clearance, chloride clearance, and distal fractional chloride reabsorption. Subsequently, furosemide or hydrochlorothiazide was administered. Samples were collected and the same parameters were calculated. In our patients, chloride clearance was increased more than 10 times after furosemide administration(2.1 : 25.7 and 2.2 : 27.4 mL/min/100 mL GFR), but not increased after hydrochlorothiazide treatment(2.1 : 1.6 and 2.2 : 2.6 mL/min/100 mL GFR). And the distal fractional chloride reabsorption was significantly decreased by furosemide injection (73% : 15% and 75% : 4.6%), whereas hydrochlorothiazide had no effect on it(73% : 63% and 75% : 78%). These findings indicate that our patients have a defect in thiazide-sensitive Na-Cl cotransporter in the distal tubule, which is compatible with the pathophysiology of Gitelman's syndrome.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.20 no.1
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• pp.29-35
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• 2020

Joubert syndrome (JS) is a rare genetic disorder that is characterized by ataxia, hypotonia, developmental delay, respiratory abnormalities such as apnea-hyperpnea, and abnormal eye movements. The pathognomonic diagnostic finding is the "molar tooth sign" (MTS) on brain magnetic resonance imaging (MRI), described as cerebellar vermis hypoplasia or dysplasia, thick and horizontally oriented superior cerebellar peduncles, and an abnormally deep interpeduncular fossa. JS is characterized by genetic heterogeneity: pathogenic variants in over 30 genes have been identified to date. The CEP290 protein, which is on chromosome 12q21.3, is most frequently mutated in patients with JS, especially with renal involvement. Here, we report a case of JS in a 14-year-old male patient with end-stage renal disease. To the best of our knowledge, this is the first Korean report of a patient with JS due to CEP290 mutation (c.6012-12T> A) whose diagnosis was confirmed after repetitive MRI. We suggest consultation with an experienced neuro-radiologist and follow-up MRI studies to detect a "hidden" MTS if clinical findings suggest a diagnosis of JS. Furthermore, even in the absence of an MTS, whole exome sequencing should be considered.

• Clinical and Experimental Pediatrics
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• v.48 no.1
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• pp.13-20
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• 2005

Purpose : Obesity is, along with metabolic syndrome, closely related with nonalcoholic fatty liver disease. This study tried to evaluate the prevalence of nonalcoholic liver disease in obese children and verify the factors associated with the disease. Methods : Two hundred and seventy nine children who showed a body mass index of 95 percentile over the baseline in health examinations of surrounding schools were evaluated. Questionnaires, body measurements, blood examinations, and ultrasonographic measurements of abdominal fat were examined. Results : Out of 279 children enrolled for the study, 27 children were found to possess nonalcoholic liver disease(9.7%). Among those found to be positive for nonalcoholic liver disease, it's prevalence increased to 15.2%(22 out of 144 children) among children with severe obesity. Factors known to be involved with metabolic syndrome, namely waist/hip circumference ratio and thickness of abdominal fat, were found to be closely related to nonalcoholic fatty liver as well. Conclusion : The prevalence of nonalcoholic fatty liver in obese children was 9.7%, with higher incidence observable in severer obesity. Factors responsible for metabolic syndrome were closely associated with nonalcoholic fatty liver disease, and the level of insulin resistance, which is an useful index in both diseases, can be utilized in evaluation of the effect of treatment and control of risk factors.

• Journal of Community Nutrition
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• v.6 no.3
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• pp.131-136
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• 2004

The purpose of this study is to compare the relative risk of metabolic syndrome (MS) in middle aged adults with different body weights. 155 subjects living in urban Beijing were recruited from 24 neighborhood committees of urban Beijing. They were divided into normal weight, overweight and obese groups according to their BMIs. The general information of the subjects was collected using an interview-administered questionnaire. Standard procedure was followed to measure subject's weight, height and waist. Biochemical parameters (total cholesterol (TC), low- and high­density lipoprotein cholesterol (LDL-C ; HDL-C), triglyceride (TG), and fasting glucose) and blood pressure were also determined. The results indicated that the systolic and diastolic blood pressure, HDL-C of obese group was lower than that of the normal weight group. Fasting glucose of obese males was significantly higher than that of normal weight males. No significant difference of fasting glucose was found among female groups. No significant difference of TG was found among male groups, while TG of overweight and obese females was both significantly higher than normal weight females. There was no significant difference of TC and LDL-C among normal weight, overweight and obese groups in both males and females. The MS rate of obese males was significantly higher than the normal weight and overweight males, as was the female. The relative risk of MS in obese group was about 11 times higher (OR=11.249, $95\%CI$ = 3.812 - 33.191) than the normal weight group after adjusting for age, gender, smoking, drinking, family economic level and education status. It is concluded that obesity contributed to lower HDL-C, hypertriglyceride, hypertension and MS after controlling the effects of age, gender, socioeconomic status, alcohol drinking and smoking. Obese individuals have a higher risk of having MS than their normal weight counterparts.

• Journal of the Korean Society of Radiology
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• v.17 no.4
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• pp.597-606
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• 2023

This study retrospectively analyzed the test results of 235 patients who visited a medical institution in Busan from May 2022 and February 2023 and conducted both carotid ultrasonography and blood tests. The purpose of this study was to investigate the effect on intima-media thickness and blood flow velocity by measuring the intima-media thickness and blood flow velocity through carotid ultrasonography and analyzing the factors influencing the subject's body mass index and metabolic syndrome. Correlation analysis between carotid intima-media thickness and body mass showed (p=0.000) confirming that there is a correlation. As a result Correlation analysis between blood flow velocity and body mass index (p=0.015) was found, comfirming that there was a correlation. Age (p= 0.000), fasting blood glucose (p=0.002) and alcohol consumption (p=0.006) were found to be correlated with carotid intima-media thickness. An increase in Carotid intima-media thicknesses causes an increase in events caused by cardiovascular disease. Therefore, efforts must be made to exclude factors that increase Carotid intima-media thicknesses, and it will be most important to prevent cardiovascular disease through research on various prediction methods and regular checkups.

• Journal of the Korea Society of Computer and Information
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• v.25 no.3
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• pp.185-190
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• 2020

The purpose of this study was to investigate the effects of systemic chronic inflammatory state on dry eye syndrome as a local chronic inflammatory condition. From June 16, 2016 to December 31, 2016, 726 patients who visited the general health examination center were screened using the Schirmer's test and the metabolic syndrome screening test. A total of 214 patients who were studied for hs-CRP and HbA1c were simultaneously selected for the study as well. Dry eye syndrome significantly increased in higher age groups (p<0.001) and women (p=0.020); there was no significant relationship with fasting plasma glucose, hs-CRP. In addition, as HbA1c increased the risk for dry eye syndrome also increased (β=1.960, p=0.025). Therefore, dry eye syndrome may not caused by microvascular changes in the lacrimal gland due to chronic inflammatory conditions. In diabetic patients, long-term blood glucose control may be more important than short-term blood glucose control. The high prevalence of dry eye syndrome in diabetic patients is thought to be due to autonomic dysfunction rather than microvascular changes caused by chronic inflammation.

• Journal of Korean Academy of Nursing
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• v.40 no.6
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• pp.831-843
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• 2010

Purpose: In this study cardiovascular health status and health behavior of Korean women based on their household income were explored. Methods: For this cross-sectional study, 91 women residing in the community were recruited to complete survey questionnaires and biophysical tests including blood pressure (BP), body mass index (BMI), body fat rate, waist circumference (WC), and blood chemistry tests. Results: Compared to non-low income women (NLIW), low income women (LIW) were more likely to be older, less educated, and jobless, and further more LIW were postmenopause and reported having been diagnosed with hypertension or hypercholesterolemia. Significant differences were found in systolic BP, triglyceride level, BMI, body fat rate, and WC between the groups. Two fifths of the LIW had indications for metabolic syndrome. Their 10-yr risk estimate of myocardioal infarction or coronary death demonstrated a higher probability than that of NLIW. Although these significant differences were due to age gap between the groups, advanced age is known to be one of the key characteristics of LIW as well as a non-modifiable risk factor. Conclusion: Effective community programs for vulnerable women at risk of cardiovascular disease should be based on strategies targeting unhealthy behaviors and modifiable risk factors.

• Journal of Korean Critical Care Nursing
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• v.16 no.2
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• pp.67-80
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• 2023

Purpose : The 2020 Dietary Guidelines Advisory Committee specifically noted that meal frequency is associated with risks for cardiovascular disease, type 2 diabetes, and all-cause mortality, although the current evidence on meal frequency is conflicting. As meal frequency itself is affected by various factors, the aim of the study was not only to examine its relationships with cardiometabolic risk but also to identify the mediating effects of dietary quality. Methods : This study used a descriptive correlational design. In all 8,141 healthy adults participated in the study. Measurements included meal frequency, cardiometabolic risk, and diet quality. Data were analyzed using descriptive statistics, Pearson's correlation coefficient analysis, and process macro bootstrapping model 4. Results : The meal frequency was 3.52±0.61 times per day, the risk of cardiovascular metabolic diseases was 0.01±0.61 points, and the diet quality was 62.08±13.87 points. In mediation analysis, the effect of meal frequency on cardiometabolic risk score was completely mediated by diet quality. Conclusion : Improved diet quality in healthy adults should be considered when designing meal frequency interventions aimed at reducing their cardiometabolic risk, as the effect of meal frequency support on cardiometabolic risk was found to be mediated by diet quality.

• Journal of the Korean Society of Food Science and Nutrition
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• v.36 no.3
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• pp.311-317
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• 2007

The purpose of this study is to evaluate the nutrient intake and selected blood parameters of adults with metabolic syndrome (MS) and to provide data in forming a dietary guideline for the prevention of chronic diseases. Subjects were recruited and divided into two groups according to the NCEP-ATP III criteria and WHO Asia-Pacific Area criteria for obesity. MS group was defined as subjects who have three or more risk factors and control group was defined as those with two or less of the risk factors. The average age, height, weight, body mass index (BMI) were 58.8 years, 158.0 cm, 66.3 kg, $26.5\;kg/m^{2}$, respectively, in the MS group; and 58.4 years, 158.9 cm, 59.6 kg, $23.5\;kg/m^{2}$, respectively, in the control group. The weight and BMI in the MS group were significantly higher than those in the control (p<0.001). There was no significant difference in the food and nutrient intake between the MS and control group. Male subjects in the MS group showed significantly higher intake of mushrooms than those in the control (p<0.05). Egg consumption in the MS group was significantly lower than those in the control (p<0.01). Consumption of vegetables and fiber was significantly lower for female subjects in the MS group than those in the control (p<0.05). Serum GPT, AI and WBC count in the MS group (27.8 IU/L, 3.7, $5964.2\;{\mu}/L$) were significantly higher than those in the control (22.6 IU/L, 3.2, $5250.0\;{\mu}/L$; p<0.01, p<0.001, p<0.01). In conclusion, consuming fiber and vegetables may prevent and reduce metabolic syndrome in adult men and women, and this study demonstrates the need for proper dietary management for them.