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1.
Journal of Korean Medical Science ; : e16-2022.
Article in English | WPRIM | ID: wpr-915529

ABSTRACT

Following nonpharmaceutical intervention (NPI) to mitigate coronavirus disease 2019 has led to drastic reduction in incidence of communicable disease. Intussusception is commonly preceded by infectious pathogens. Indirect effect from NPI implementation on incidence of intussusception has not been understood fully. We conducted a cohort study to estimate the impact of NPI on incidence of intussusception in Korean children. The net risk ratio of intussusception incidence for 2020 compared to 2010–2019 was 0.53 (95% confidence interval [CI], 0.43–0.64) for boys and 0.56 (95% CI, 0.44–0.71) for girls (P for difference = 0.017). Our study showed an association between NPI implementation and reduction of intussusception incidence, with more profound reduction in boys compared to girls.

2.
Journal of Neurogastroenterology and Motility ; : 454-462, 2022.
Article in English | WPRIM | ID: wpr-938107

ABSTRACT

Background/Aims@#The effects of probiotics in children vary based on diseases and probiotic strains. We aim to investigate the effectiveness of Saccharomyces boulardii and lactulose for treating childhood functional constipation. @*Methods@#This open-label randomized controlled trial was conducted at 10 university hospitals in Korea. Children who were diagnosed with functional constipation were allocated to 3 groups (lactulose monotherapy, combination therapy, and S. boulardii monotherapy). The primary outcome was treatment success rate that was accordingly defined as ≥ 3 bowel movements without incontinence at week 12. The cumulative successful maintenance and drug maintenance rates without drug changes were calculated throughout the study period. We compared stool frequency, incontinence, consistency, and painful defecation at week 2 among the 3 groups. @*Results@#Overall, 187 children were assigned to the lactulose monotherapy (n = 69), combination therapy (n = 68), or S. boulardii monotherapy (n = 50) groups. The primary outcome was significantly higher in the lactulose monotherapy group (26.1%) or combination therapy group (41.2%) than in the S. boulardii monotherapy group (8.0%). The S. boulardii monotherapy group showed a significantly lower cumulative successful maintenance and drug maintenance rate than the other 2 groups. There were no significant intergroup differences in the frequency of defecation, incontinence, painful defecation, or stool consistency during the follow-up at week 2. @*Conclusion@#S. boulardii monotherapy was not superior to lactulose monotherapy or combination therapy and showed a higher drug change rate, supporting the current recommendation of probiotics in the treatment of childhood functional constipation.

3.
Nutrition Research and Practice ; : 230-241, 2020.
Article | WPRIM | ID: wpr-835095

ABSTRACT

BACKGROUND/OBJECTIVES@#Inadequate nutrition in infants and young children affects physical growth and neurocognitive development. Therefore, early nutritional intervention is important to promote catch-up growth in young children with faltering growth. The aim of this study was to evaluate the effect of nutritional supplementation with a pediatric concentrated and balanced nutritional supplement formula on promoting growth and improving nutritional status in children with nonorganic faltering growth. @*SUBJECTS/METHODS@#Children aged 12–36 months whose body weight-for-age was < 5th percentile on the Korean Growth Charts were enrolled. Children born premature or having organic diseases were excluded. Children were instructed to consume 400 mL of formula per day in addition to their regular diet for 6 months. Pediatricians and dietitians educated the parents and examined the subjects every 2 months. Anthropometric parameters were measured at baseline and at 2, 4, and 6 months, and laboratory tests were done at baseline and 6 months. The good consumption group included children who consumed ≥ 60% of the recommended dose of formula. @*RESULTS@#Total 82 children completed the 6-month intervention. At baseline, there were no significant differences in all variables between the good consumption and poor consumption groups. Weight and weight z-scores were significantly improved in the good consumption group compared to the poor consumption group at the end of the intervention (P = 0.009, respectively). The good consumption group showed a significant trend for gaining weight (P < 0.05) and weight z-score (P < 0.05) compared to the poor consumption group during 6 months of formula intake. The concentration of blood urea nitrogen was significantly increased in the good consumption group (P = 0.001). @*CONCLUSIONS@#Nutritional supplementation with a concentrated and balanced pediatric nutritional formula along with dietary education might be an effective approach to promote catch-up growth in children with nonorganic faltering growth.

4.
Pediatric Gastroenterology, Hepatology & Nutrition ; : 231-242, 2020.
Article | WPRIM | ID: wpr-834142

ABSTRACT

Purpose@#In East Asian countries, there are only a few epidemiologic studies of eosinophilic esophagitis (EoE) and no studies in children. We investigated the incidence and compared the clinical characteristics of EoE and eosinophilic gastroenteritis involving the esophagus (EGEIE) in Korean children. @*Methods@#A total of 910 children, who had symptoms of esophageal dysfunction, from 10 hospitals in Korea were included. EoE was diagnosed according to diagnostic guidelines and EGEIE was diagnosed when there were >15 eosinophils in the esophagus per high power field (HPF) and >20 eosinophils per HPF deposited in the stomach and duodenum with abnormal endoscopic findings. @*Results@#Of the 910 subjects, 14 (1.5%) were diagnosed with EoE and 12 (1.3%) were diagnosed with EGEIE. Vomiting was the most common symptom in 57.1% and 66.7% of patients with EoE and EGEIE, respectively. Only diarrhea was significantly different between EoE and EGEIE (p=0.033). In total, 61.5% of patients had allergic diseases. Exudates were the most common endoscopic findings in EoE and there were no esophageal strictures in both groups. The median age of patients with normal endoscopic findings was significantly younger at 3.2 years, compared to the median age of 11.1 years in those with abnormal endoscopic findings (p=0.004). @*Conclusion@#The incidence of EoE in Korean children was lower than that of Western countries, while the incidence of EGEIE was similar to EoE. There were no clinical differences except for diarrhea and no differences in endoscopic findings between EoE and EGEIE.

5.
Pediatric Gastroenterology, Hepatology & Nutrition ; : 1-27, 2019.
Article in English | WPRIM | ID: wpr-719611

ABSTRACT

The Committee on Pediatric Obesity of the Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition newly developed the first Korean Guideline on the Diagnosis and Treatment of Obesity in Children and Adolescents to deliver an evidence-based systematic approach to childhood obesity in South Korea. The following areas were systematically reviewed, especially on the basis of all available references published in South Korea and worldwide, and new guidelines were established in each area with the strength of recommendations based on the levels of evidence: 1) definition and diagnosis of overweight and obesity in children and adolescents; 2) principles of treatment of pediatric obesity; 3) behavioral interventions for children and adolescents with obesity, including diet, exercise, lifestyle, and mental health; 4) pharmacotherapy; and 5) bariatric surgery.


Subject(s)
Adolescent , Child , Humans , Bariatric Surgery , Diagnosis , Diet , Drug Therapy , Gastroenterology , Korea , Life Style , Mental Health , Obesity , Overweight , Pediatric Obesity
6.
Pediatric Gastroenterology, Hepatology & Nutrition ; : 41-49, 2019.
Article in English | WPRIM | ID: wpr-719609

ABSTRACT

Recent studies on pediatric inflammatory bowel disease (IBD) have revealed that early-onset IBD has distinct phenotypic differences compared with adult-onset IBD. In particular, very early-onset IBD (VEO-IBD) differs in many aspects, including the disease type, location of the lesions, disease behavior, and genetically attributable risks. Several genetic defects that disturb intestinal epithelial barrier function or affect immune function have been noted in these patients from the young age groups. In incidence of pediatric IBD in Korea has been increasing since the early 2000s. Neonatal or infantile-onset IBD develops in less than 1% of pediatric patients. Children with “neonatal IBD” or “infantile-onset IBD” have higher rates of affected first-degree relatives, severe disease course, and a high rate of resistance to immunosuppressive treatment. The suspicion of a monogenic cause of VEO-IBD was first confirmed by the discovery of mutations in the genes encoding the interleukin 10 (IL-10) receptors that cause impaired IL-10 signaling. Patients with such mutations typically presented with perianal fistulae, shows a poor response to medical management, and require early surgical interventions in the first year of life. To date, 60 monogenic defects have been identified in children with IBD-like phenotypes. The majority of monogenic defects presents before 6 years of age, and many present before 1 year of age. Next generation sequencing could become an important diagnostic tool in children with suspected genetic defects especially in children with VEO-IBD with severe disease phenotypes. VEO-IBD is a phenotypically and genetically distinct disease entity from adult-onset or older pediatric IBD.


Subject(s)
Child , Humans , Infant , Fistula , Incidence , Inflammatory Bowel Diseases , Interleukin-10 , Korea , Phenotype
7.
Korean Journal of Pediatrics ; : 3-21, 2019.
Article in English | WPRIM | ID: wpr-719433

ABSTRACT

The Committee on Pediatric Obesity of the Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition newly developed the first Korean Guideline on the Diagnosis and Treatment of Obesity in Children and Adolescents to deliver an evidence-based systematic approach to childhood obesity in South Korea. The following areas were systematically reviewed, especially on the basis of all available references published in South Korea and worldwide, and new guidelines were established in each area with the strength of recommendations based on the levels of evidence: (1) definition and diagnosis of overweight and obesity in children and adolescents; (2) principles of treatment of pediatric obesity; (3) behavioral interventions for children and adolescents with obesity, including diet, exercise, lifestyle, and mental health; (4) pharmacotherapy; and (5) bariatric surgery.


Subject(s)
Adolescent , Child , Humans , Bariatric Surgery , Diagnosis , Diet , Drug Therapy , Gastroenterology , Korea , Life Style , Mental Health , Obesity , Overweight , Pediatric Obesity
8.
Pediatric Gastroenterology, Hepatology & Nutrition ; : 233-241, 2019.
Article in English | WPRIM | ID: wpr-741841

ABSTRACT

PURPOSE: Vitamin D deficiency is a condition widespread throughout the world. Recent studies have suggested that vitamin D deficiency was associated with obesity and metabolic syndrome. The purpose of the study was to examine the relationship between vitamin D deficiency and nonalcoholic fatty liver disease (NAFLD) in adolescents. METHODS: The data were obtained from the Korean National Health and Nutrition Examination Survey from 2008–2014. A total of 3,878 adolescents were included in the study. Vitamin D deficiency was defined as a 25-hydroxyvitamin D concentration 30 U/L. RESULTS: Vitamin D deficiency was noted in 78.9% of the studied population. Age, body mass index, waist circumference, and blood pressure, glucose, cholesterol, and triglyceride levels were significantly higher in adolescents with suspected NAFLD than in adolescents without suspected NAFLD, while the mean vitamin D level was significantly lower in adolescents with suspected NAFLD. The multivariate-adjusted odds of suspected NAFLD were higher with increased age, male gender, obesity, and metabolic syndrome. Individuals with vitamin D deficiency were at higher risk of suspected NAFLD (odds ratio, 1.77; 95% confidence interval, 1.07–2.95) after adjusting for age, gender, obesity, and metabolic syndrome. CONCLUSION: Vitamin D deficiency was associated with suspected NAFLD, independent of obesity and metabolic syndrome, in adolescents.


Subject(s)
Adolescent , Child , Humans , Male , Alanine Transaminase , Blood Pressure , Body Mass Index , Cholesterol , Glucose , Non-alcoholic Fatty Liver Disease , Nutrition Surveys , Obesity , Triglycerides , Vitamin D Deficiency , Vitamin D , Vitamins , Waist Circumference
9.
Journal of Korean Medical Science ; : e183-2019.
Article in English | WPRIM | ID: wpr-765013

ABSTRACT

BACKGROUND: This study aimed to investigate the awareness and application of ROME IV criteria for functional constipation (FC) in real-world practices and assessed differences between pediatric gastroenterologists (PGs) and general pediatricians. METHODS: A total of 239 (47.8%) out of 500 nationwide pediatricians answered a questionnaire for diagnosis and management of pediatric FC; 60 were PGs (75% of total PGs in Korea). RESULTS: A total of 16.6% of pediatricians were aware of the exact ROME IV criteria. Perianal examination and digital rectal examination were practiced less, with a higher tendency among PGs (P 6 months (63.8%) than 1-year were lactulose (59.1%), followed by polyethylene glycol (PEG) 4000 (17.7%), and probiotics (11.8%). Prescription priority significantly differed between PGs and general pediatricians; lactulose or PEG 4000 were most commonly prescribed by PGs (89.7%), and lactulose or probiotics (75.7%) were prescribed by general pediatricians (P < 0.001). For patients aged < 1-year, lactulose (41.6%) and changing formula (31.7%) were commonly prescribed. Most participants recommended diet modification, and PGs more frequently used defecation diary (P = 0.002). CONCLUSION: Discrepancies between actual practice and Rome IV criteria and between PGs and general pediatricians were observed. This survey may help construct practice guidelines and educational programs for pediatric FC.


Subject(s)
Child , Humans , Colonic Diseases, Functional , Constipation , Defecation , Diagnosis , Digital Rectal Examination , Enema , Feeding Behavior , Lactulose , Polyethylene Glycols , Prescriptions , Probiotics
10.
Pediatric Gastroenterology, Hepatology & Nutrition ; : 581-587, 2019.
Article in English | WPRIM | ID: wpr-760882

ABSTRACT

Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare autosomal recessive multisystemic disease that is associated with the liver, kidney, skin, and central nervous and musculoskeletal systems. ARC occurs as a result of mutations in the VPS33B (Vacuolar protein sorting 33 homolog B) or VIPAR (VPS33B interacting protein, apical-basolateral polarity regulator) genes. A female infant presented with neonatal cholestasis with a severe clinical outcome. She was diagnosed with ARC syndrome using targeted exome sequencing (TES). Exome sequencing revealed compound heterozygous mutations, c.707A>T and c.239+5G>A, in VPS33B, where c.707A>T was a novel variant; the resultant functional protein defects were predicted via in silico analysis. c.239+5G>A, a pathogenic mutation that affects splicing, is found in less than 0.1% of the general population. Invasive techniques, such as liver biopsies, did not contribute to a differential diagnosis of ARC syndrome; thus, early TES together with clinical presentations constituted an apparently accurate diagnostic procedure.


Subject(s)
Female , Humans , Infant , Biopsy , Cholestasis , Computer Simulation , Diagnosis, Differential , Exome , Kidney , Liver , Musculoskeletal System , Protein Transport , Skin
11.
Pediatric Gastroenterology, Hepatology & Nutrition ; : 431-440, 2019.
Article in English | WPRIM | ID: wpr-760874

ABSTRACT

PURPOSE: No national survey has yet described the guidelines followed by Korean pediatricians to treat acute gastroenteritis (AGE). An online survey was performed to investigate the management of AGE followed by members of The Korean Society of Pediatric Gastroenterology, Hepatology, and Nutrition, and the results were compared between pediatric gastroenterologists (PG) and general pediatricians (GP). METHODS: Questionnaires were sent to pediatricians between June 2 and 4, 2018 regarding the type of hospital, indications for admission, antiemetic and antidiarrheal drugs and antibiotics prescribed, and dietary changes advised. RESULTS: Among the 400 pediatricians approached, 141 pediatricians (35.3%) responded to the survey. PG comprised 39% of the respondents and 72.7% worked at a tertiary hospital. Both PG and GP considered diarrhea or vomiting to be the primary symptom. The most common indication for hospitalization was severe dehydration (98.8%). Most pediatricians managed dehydration with intravenous fluid infusions (PG 98.2%, GP 92.9%). Antiemetics were prescribed by 87.3% of PG and 96.6% of GP. Probiotics to manage diarrhea were prescribed by 89.1% of PG and 100.0% of GP. Antibiotics were used in children with blood in diarrheal stool or high fever. Dietary changes were more commonly recommended by GP (59.3%) than by PG (27.3%) (p<0.05). Tests to identify etiological agents were performed primarily in hospitalized children. CONCLUSION: This survey assessing the management of pediatric AGE showed that the indications for admission and rehydration were similar between GP and PG. Drug prescriptions for diarrhea and dietary changes were slightly commonly recommended by GP than by PG.


Subject(s)
Child , Humans , Anti-Bacterial Agents , Antidiarrheals , Antiemetics , Child, Hospitalized , Dehydration , Diarrhea , Disease Management , Drug Prescriptions , Fever , Fluid Therapy , Gastroenteritis , Gastroenterology , Hospitalization , Probiotics , Surveys and Questionnaires , Tertiary Care Centers , Vomiting
12.
Journal of Korean Medical Science ; : e177-2018.
Article in English | WPRIM | ID: wpr-715017

ABSTRACT

BACKGROUND: Mutations in ATP7B cause Wilson disease (WD). However, direct DNA full sequencing cannot detect all mutations in patients with WD. Multiplex ligation-dependent probe amplification (MLPA) analysis is reportedly useful in increasing the diagnostic yield in other genetic disorders with large deletions or insertions. The aim of this study was to evaluate whether the detection rate of ATP7B mutations can be increased by using MLPA. METHODS: We enrolled 114 children with WD from 104 unrelated families based on biochemical tests and direct DNA full sequencing. The patients with one or zero mutant allele were investigated using MLPA. We analyzed phenotypic correlations. RESULTS: Total allele frequency by full sequencing was 87.5%. Full sequencing revealed two mutant alleles in 80 of 104 unrelated children. One mutant allele was detected in 22 children, and no mutations were found in two children. Novel mutations including small deletions with frameshift mutations were identified by DNA sequencing. MLPA revealed no gross deletion or duplication in 24 children with one or zero mutant alleles. The number of detected mutations was not associated with hepatic manifestation, age of onset, Kayser-Fleischer ring, ceruloplasmin, and urinary Cu concentrations. CONCLUSION: MLPA showed a limited role to increase the mutation detection rate in children who do not receive a definite genetic diagnosis of WD through DNA full sequencing. This finding suggests that large deletions or duplications might be extremely rare in WD. Further development is needed to improve the genetic diagnosis of WD.


Subject(s)
Child , Humans , Age of Onset , Alleles , Ceruloplasmin , Diagnosis , DNA , Frameshift Mutation , Gene Frequency , Hepatolenticular Degeneration , Multiplex Polymerase Chain Reaction , Phenotype , Sequence Analysis , Sequence Analysis, DNA
13.
Journal of Korean Medical Science ; : e174-2018.
Article in English | WPRIM | ID: wpr-714813

ABSTRACT

BACKGROUND: Henoch-Schӧnlein purpura (HSP) is a common vasculitis of childhood. Though HSP is usually self-limiting, severe complications can occur. The management for this condition has not been established yet. Thus, this nationwide study aimed at investigating epidemiological characteristics of children with HSP in Korea. The patterns of clinical practice with regard to the complications of the condition were also investigated. METHODS: This is a national population-based study that used the National Health Insurance Database. Children below 18 years who were diagnosed with HSP in Korea between 2006 and 2015 were enrolled. Data, such as age, sex, yearly and monthly distribution of HSP, hospitalization, re-hospitalization, comorbidities, and interventions were obtained. The use of steroids was also analyzed. RESULTS: A total of 56,841 children were enrolled. The annual incidence of HSP was 55.9 per 100,000 children. The peak age was 5 years. Spring was the most prevalent season. Sex (male) and young age (< 9 years) were risk factors of hospitalization. Younger children were more likely to be re-hospitalized and suspected with intussusception, arthritis, and nephritis. Only 4 children received laparotomy. In total, 57% were managed with steroids, and mean durations of medication were 4–5 days. Children who were hospitalized and those with comorbidities used steroids more frequently (P < 0.001). CONCLUSION: The annual incidence of HSP is 55.9 per 100,000 children which is higher in Korea than that in other countries. Younger children can have a more severe clinical course. This nationwide survey provides valuable information to understand HSP in children and to inspire further research on HSP.


Subject(s)
Child , Humans , Arthritis , Comorbidity , Epidemiology , Hospitalization , Incidence , Intussusception , Korea , Laparotomy , National Health Programs , Nephritis , Purpura , Risk Factors , Seasons , Steroids , Vasculitis
14.
Gut and Liver ; : 221-222, 2018.
Article in English | WPRIM | ID: wpr-714622

ABSTRACT

No abstract available.


Subject(s)
Crohn Disease , Necrosis
15.
Korean Journal of Pediatrics ; : 135-149, 2018.
Article in English | WPRIM | ID: wpr-714567

ABSTRACT

Growth charts are curves or tables that facilitate the visualization of anthropometric parameters, and are widely used as an important indicator when evaluating the growth status of children and adolescents. The latest version of the Korean National Growth Charts released in 2007 has raised concerns regarding the inclusion of data from both breastfed and formula-fed infants, higher body mass index (BMI) values in boys, and smaller 3rd percentile values in height-for-age charts. Thus, new growth charts have been developed to improve the previous version. The 2006 World Health Organization Child Growth Standards, regarded as the standard for breastfed infants and children, were introduced for children aged 0–35 months. For children and adolescents aged 3–18 years, these new growth charts include height-for-age, weight-for-age, BMI-for-age, weight-for-height, and head circumference-for-age charts, and were developed using data obtained in 1997 and 2005. Data sets and exclusion criteria were applied differently for the development of the different growth charts. BMI-for-age charts were adjusted to decrease the 95th percentile values of BMI. Criteria for obesity were simplified and defined as a BMI of ≥95th percentile for age and sex. The 3rd percentile values for height-for-age charts were also increased. Additional percentile lines (1st and 99th) and growth charts with standard deviation lines were introduced. 2017 Korean National Growth Charts are recommended for the evaluation of body size and growth of Korean children and adolescents for use in clinics and the public health sector in Korea.


Subject(s)
Adolescent , Child , Humans , Infant , Body Mass Index , Body Size , Dataset , Growth Charts , Head , Korea , Obesity , Public Health , World Health Organization
16.
Journal of Korean Medical Science ; : 1202-1206, 2017.
Article in English | WPRIM | ID: wpr-176872

ABSTRACT

We investigated recent epidemiologic trends regarding campylobacteriosis vs. nontyphoidal salmonellosis (NTS), a previously known leading cause of bacterial enterocolitis in Korean children. Among 363 hospitalized children with acute inflammatory diarrhea, Campylobacter (18.7%) was the most frequently detected pathogen using multiplex polymerase chain reaction tests followed by Salmonella (15.4%). Children with campylobacteriosis were older than children with NTS (112.6 months [interquartile range (IQR) 66.0–160.1] vs. 53 months [IQR 31.0–124.0], P < 0.001) and had higher prevalences of abdominal cramping and stool hemoglobin. Campylobacteriosis may be suspected as a primary cause of acute inflammatory diarrhea in hospitalized school-aged Korean children and adolescents.


Subject(s)
Adolescent , Child , Humans , Age Distribution , Campylobacter , Child, Hospitalized , Colic , Diarrhea , Enterocolitis , Multiplex Polymerase Chain Reaction , Prevalence , Salmonella , Salmonella Infections
17.
Pediatric Gastroenterology, Hepatology & Nutrition ; : 20-28, 2016.
Article in English | WPRIM | ID: wpr-61674

ABSTRACT

PURPOSE: Foreign body (FB) ingestion is common in children, and button battery (BB) ingestion has been increasing in recent years. This study was to identify factors related to outcomes of FB ingestion, particularly BBs in the stomach. We evaluated whether the current recommendations are appropriate and aimed to suggest indications for endoscopic removal of BB in the stomach in young children. METHODS: We investigated patient age, shape, size, location of FBs, spontaneous passage time and resulting complications among 76 children. We observed types, size, location of BB and outcomes, and analyzed their associations with complications. RESULTS: Coins and BB were the two most common FBs. Their shapes and sizes were not associated with the spontaneous passage time. Size, spontaneous passage time, and age were also not associated with any specific complications. For BB ingestion, all 5 cases with lithium batteries (≥1.5 cm, 3 V) presented moderate to major complications in the esophagus and stomach without any symptoms, even when the batteries were in the stomach and beyond the duodenum, while no complications were noted in 7 cases with alkaline batteries (<1.5 cm, 1.5 V) (p=0.001). All endoscopies were conducted within 24 hours after ingestion. CONCLUSION: The type and voltage of the battery should be considered when determining whether endoscopy is required to remove a BB in the stomach. For lithium battery ingestion in young children, urgent endoscopic removal might be important in order to prevent complications, even if the child is asymptomatic and the battery is smaller than 2 cm.


Subject(s)
Child , Humans , Duodenum , Eating , Endoscopy , Esophagus , Foreign Bodies , Lithium , Numismatics , Stomach
18.
Korean Journal of Pediatrics ; : S53-S56, 2016.
Article in English | WPRIM | ID: wpr-201862

ABSTRACT

Familial Mediterranean fever (FMF) is the most common Mendelian autoinflammatory disease, characterized by uncontrolled activation of the innate immune system that manifests as recurrent brief fever and polyserositis (e.g., peritonitis, pleuritic, and arthritis). FMF is caused by autosomal recessive mutations of the Mediterranean fever gene, MEFV which encodes the pyrin protein. Although FMF predominantly affects people from Mediterranean and Middle Eastern ethnic origins, 3 cases of FMF have been reported in Korea since 2012. We report another case of FMF in Korea in which the patient presented with a month-long fever without serositis. After treatment with colchicine was initiated, the patient’s symptoms quickly subsided. The response to colchicine was helpful for diagnosis. We compare the FMF genotypes in Korea with in other countries. Studying FMF cases in Korea will help establish the best MEFV exons to use for screening and diagnosis of Korean FMF.


Subject(s)
Humans , Colchicine , Diagnosis , Exons , Familial Mediterranean Fever , Fever of Unknown Origin , Fever , Genotype , Immune System , Korea , Mass Screening , Peritonitis , Serositis
19.
Korean Journal of Pediatrics ; : S72-S75, 2016.
Article in English | WPRIM | ID: wpr-201857

ABSTRACT

Eosinophilic gastroenteritis is a rare disease characterized by prominent eosinophilic tissue infiltration of the gastrointestinal tract. Here, we report a case of eosinophilic gastroenteritis in an 18-year-old patient with prolonged nephrotic syndrome who presented with abdominal pain and peripheral hypereosinophilia. During the previous 2 years, he had visited local Emergency Department several times because of epigastric pain and nausea. He had been treated with steroid-dependent nephrotic syndrome since 3 years of age. Tests ruled out allergic and parasitic disease etiologies. Gastroduodenoscopy with biopsy revealed marked eosinophilic infiltration in the duodenum. Renal biopsy findings indicated minimal change disease spectrum without eosinophilic infiltration. The oral deflazacort dosage was increased, and the patient was discharged after abdominal pain resolved. To our knowledge, this is the first report of eosinophilic gastroenteritis in a patient with minimal change disease.


Subject(s)
Adolescent , Humans , Male , Abdominal Pain , Biopsy , Duodenum , Emergency Service, Hospital , Eosinophilia , Eosinophils , Gastroenteritis , Gastrointestinal Tract , Nausea , Nephrosis, Lipoid , Nephrotic Syndrome , Parasitic Diseases , Rare Diseases
20.
Pediatric Gastroenterology, Hepatology & Nutrition ; : 55-59, 2015.
Article in English | WPRIM | ID: wpr-222171

ABSTRACT

Gastroesophageal reflux disorder (GERD) is the most common esophageal disorder in children. Achalasia occurs less commonly but has similar symptoms to GERD. A nine-year old boy presented with vomiting, heartburn, and nocturnal cough. The esophageal impedance-pH monitor revealed nonacidic GERD (all-refluxate clearance percent time of 20.9%). His symptoms persisted despite medical treatment for GERD, and he was lost to follow up. Four years later, he presented with heartburn, solid-food dysphagia, daily post-prandial vomiting, and failure to thrive. Endoscopy showed a severely dilated esophagus with candidiasis. High-resolution manometry was performed, and he was diagnosed with classic achalasia (also known as type I). His symptoms resolved after two pneumatic dilatation procedures, and his weight and height began to catch up to his peers. Clinicians might consider using high-resolution manometry in children with atypical GERD even after evaluation with an impedance-pH monitor.


Subject(s)
Child , Humans , Male , Candidiasis , Cough , Deglutition Disorders , Dilatation , Electric Impedance , Endoscopy , Esophageal Achalasia , Esophageal pH Monitoring , Esophagus , Failure to Thrive , Gastroesophageal Reflux , Heartburn , Lost to Follow-Up , Manometry , Vomiting
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