• Advances in pediatric surgery
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• v.20 no.2
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• pp.33-37
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• 2014

Purpose: The purpose of this study was to compare the diagnostic accuracy of the non-invasive diagnostic methods and rectal suction biopsy for the detection of Hirschsprung disease (HD). Methods: We reviewed diagnostic methods and results retrospectively in patients who underwent anorectal manometry, barium enema and rectal suction biopsy for the diagnosis of HD at Asan Medical Center from January 2000 to December 2012. Results: There were 97 patients (59 neonates and 38 infants) in the study period. The overall accuracy of anorectal manometry for the diagnosis of HD was 71.1% and its sensitivity was 51.4% (48.1% in neonate and 62.5% in infant, respectively) and its overall specificity was 82.3% (81.3% in neonate and 83.3% in infant, respectively). The Overall accuracy of barium enema was 66.0% (72.8% in neonate and 55.3% in infant, respectively) and specificity of barium enema was 53.2% (56.3% in neonate and 50.0% in infant, respectively). These results were lower than those of anorectal manometry. The overall sensitivity of barium enema was 88.6% (92.6% in neonate and 75.0% in infant, respectively) and it was higher than the sensitivity of anorectal manometry. Histological studies confirmed HD in 35 patients, in one of whom the suction biopsy showed negative finding. Conclusion: Accuracy of non-invasive methods for diagnosis of HD in our study is lower than those in previous study, so we need to improve the quality of diagnostic tools in our hospital. We conclude that the rectal suction biopsy is the most accurate test for diagnosing HD, so the biopsy to confirm the diagnosis of the HD is very important.

• Advances in pediatric surgery
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• v.14 no.1
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• pp.27-36
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• 2008

Fundoplication is a common surgical procedure for gastroesophageal reflux disease (GERD). Recently the procedure has been performed with increased frequency laparoscopically. The aim of this study is to review our 11 years experience with fundoplication in infants and children. From October 1994 to December 2005, 59 fundoplications in 55 patients were performed at Sungkyunkwan University Samsung Medical Center. Medical records and laboratory results of these children were retrospectively reviewed for sex, age, symptoms and signs, coexisting disease, diagnostic methods, treatment modalities and length of operative time. Open fundoplication was performed in 41 cases and laparoscopic fundoplication in 18 cases. Simultaneous gastrostomy was done in 27 cases. Recurrent GERD symptom occurred in four patients (7.2 %) within 2 years after first fundoplication and all 4 patients had re-do fundoplication. There were no intra- and immediate post-operative complications. Gastrointesitnal symptoms were the most common indication for fundoplication in neurologically normal patients. The most frequent diagnostic studies were upper gastrointestinal series (76.3 %) and 24 hour esophageal pH monitoring (78.2 %). Fundoplication had been increased since 2004 and mostly done laparoscopically. In conclusion, our 11 years' practice of open and laparoscopic fundoplication indicates that both approaches are safe and effective in the treatment of GERD for infants and children.

• Childhood Kidney Diseases
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• v.26 no.1
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• pp.40-45
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• 2022

Purpose: Chronic kidney disease (CKD) has various underlying causes in children. Identification of the underlying causes of CKD is important. Genetic causes comprise a significant proportion of pediatric CKD cases. Methods: In this study, we performed whole-exome sequencing (WES) to identify genetic causes of pediatric CKD. From January to June 2021, WES was performed using samples from pediatric patients with CKD of unclear etiology. Results: Genetic causes were investigated using WES in 37 patients (17 males) with pediatric CKD stages 1 (n=5), 2 (n=7), 3 (n=2), 4 (n=2), and 5 (n=21). The underlying diseases were focal segmental glomerulosclerosis (n=9), congenital anomalies of the kidney and urinary tract including reflux nephropathy (n=8), other glomerulopathies (n=7), unknown etiology (n=6), and others (n=7). WES identified genetic causes of CKD in 12 of the 37 patients (32.4%). Genetic defects were discovered in the COL4A4 (n=2), WT1 (n=2), ACTN4, CEP290, COL4A3, CUBN, GATA3, LAMA5, NUP107, and PAX2 genes. WT1 defects were found in patients whose pathologic diagnosis was membranoproliferative glomerulonephritis, and identification of CUBN defects led to discontinuation of immunosuppressive agents. Genetic diagnosis confirmed the clinical diagnosis of hypoparathyroidism, sensorineural deafness, and renal disease; Alport syndrome; and Joubert syndrome in three of the patients with CKD of unknown etiology (COL4A4 [n=2], CUBN [n=1]). Extrarenal symptoms were considered phenotypic presentations of WT1, PAX2, and CEP290 defects. Conclusions: WES provided a genetic diagnosis that confirmed the clinical diagnosis in a significant proportion (32.4%) of patients with pediatric CKD.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.26 no.1
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• pp.23-33
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• 2023

Purpose: The incidence and prevalence of inflammatory bowel disease (IBD) are increasing along with an increasing number of patients with comorbid conditions like psychiatric and behavioral disorders, which are independent predictors of quality of life. Methods: Non-overlapping years (2003-2016) of National Inpatient Sample and Kids Inpatient Database were analyzed to include all IBD-related hospitalizations of patients less than 21 years of age. Patients were analyzed for a concomitant diagnosis of psychiatric/ behavioral disorders and were compared with IBD patients without psychiatric/behavioral disorder diagnoses for outcome variables: IBD severity, length of stay and inflation-adjusted hospitalization charges. Results: Total of 161,294 IBD-related hospitalizations were analyzed and the overall prevalence rate of any psychiatric and behavioral disorders was 15.7%. Prevalence rate increased from 11.3% (2003) to 20.6% (2016), p<0.001. Depression, substance use, and anxiety were the predominant psychiatric disorders. Regression analysis showed patients with severe IBD (odds ratio [OR], 1.57; confidence interval [CI], 1.47-1.67; p<0.001) and intermediate IBD (OR, 1.14; CI, 1.10-1.28, p<0.001) had increased risk of associated psychiatric and behavioral disorders than patients with a low severity IBD. Multivariate analysis showed that psychiatric and behavioral disorders had 1.17 (CI, 1.07-1.28; p<0.001) mean additional days of hospitalization and incurred additional $8473 (CI, 7,520-9,425; p<0.001) of mean hospitalization charges, independent of IBD severity. Conclusion: Prevalence of psychiatric and behavioral disorders in hospitalized pediatric IBD patients has been significantly increasing over the last two decades, and these disorders were independently associated with prolonged hospital stay, and higher total hospitalization charges.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.26 no.1
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• pp.50-57
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• 2023

Purpose: The purpose of this study was to determine the pattern of human leukocyte antigen (HLA)-DQ genotype in children diagnosed with celiac disease (CD) (biopsy proven), and to compare this with a control group; and secondarily, to correlate HLA genotypes with clinical profiles of CD. Methods: This cross-sectional comparative observational study included 26 controls and 52 patients diagnosed with CD who presented at Sir Padampat Mother and Child Health Institute, Jaipur, from May, 2017 to October, 2018. HLA DQ genotype was assessed for each patients and correlated with clinical profiles. Results: HLA DQ2/DQ8 genotypes were significantly more common in CD (present in 100.0% cases) than in controls (23.1%) in Northern India (Rajasthan). When HLA DQ2.5 and DQ8 were present together, individuals had significantly more atypical presentations and severe findings on duodenal biopsy. Similarly, patients with the HLA DQ 2.5 genotype were also predisposed to more severe endoscopic findings, while HLA DQ2.2 predisposed them to less severe biopsy findings. HLA DQ8 was significantly associated with later age at diagnosis (>5 years) and shorter stature. The highest HLA DQ relative risk (RR) for CD development was associated with HLA DQ2.5 and DQ2.2 in combination, followed by HLA DQ2.5 and DQ8 in combination, while HLA DQx.5 and HLA DQ2.2 together had the lowest risk. Conclusion: HLA DQ2/DQ8 genotypes are strongly associated with pediatric CD patients in northern India. These genotypes and their combinations may be associated with different clinical presentations of CD, and may help predict severity of CD.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.26 no.4
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• pp.193-200
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• 2023

Purpose: Crohn's disease (CD) is a chronic, idiopathic bowel disorder that can progress to partial or complete bowel obstruction. At present, there are no reliable diagnostic tests that can readily distinguish between acute inflammatory, purely fibrotic and mixed inflammatory and fibrotic. Our aim is to study the utility of contrast enhanced ultrasound (CEUS) in combination with shear wave elastography (SWE) to differentiate fibrotic from inflammatory strictures in children with obstructive CD of the terminal ileum. Methods: Twenty-five (19 male) children between 2016-2021 with CD of the terminal ileum were recruited into the study. Among these patients, 22 had CEUS kinetic measurements of tissue perfusion, including wash-in slope (dB/sec), peak intensity (dB), time to peak intensity (sec), area under the curve (AUC) (dB sec), and SWE. In total, 11 patients required surgery due to bowel obstruction. Histopathologic analysis was performed by a pathologist who was blinded to the CEUS and SWE test results. Results: Patients that underwent surgical resection had significantly higher mean area under the curve on CEUS compared to patients responsive to medical therapy (p=0.03). The AUC also correlated with the degree of hypertrophy and the percent fibrosis of the muscularis propria, as determined by histopathologic grading (p<0.01). There was no difference in the mean elastography measurements between these two patient groups. Conclusion: CEUS is a useful radiological technique that can help identify pediatric patients with medically refractory obstructive fibrotic strictures of the terminal ileum that should be considered for early surgical resection.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.21 no.1
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• pp.34-42
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• 2018

Purpose: Monogenic inflammatory bowel disease (IBD) patients do not respond to conventional therapy and are associated with a higher morbidity. We summarized the clinical characteristics of monogenic IBD patients and compared their clinical outcomes to that of non-monogenic IBD patients. Methods: We performed a retrospective cohort study of all children <18 years old who were diagnosed with IBD between 2005 and 2016. A total of 230 children were enrolled. Monogenic IBD was defined as a presentation age less than 6 years old with confirmation of a genetic disorder. We subdivided the groups into monogenic IBD (n=18), non-monogenic very early-onset IBD (defined as patients with a presentation age <6 years old without a confirmed genetic disorder, n=12), non-monogenic IBD (defined as all patients under 18 years old excluding monogenic IBD, n=212), and severe IBD (defined as patients treated with an anti-tumor necrosis factor excluding monogenic IBD, n=92). We compared demographic data, initial pediatric Crohn disease activity index/pediatric ulcerative colitis activity index (PCDAI/PUCAI) score, frequency of hospitalizations, surgical experiences, and height and weight under 3rd percentile among the patients enrolled. Results: The initial PCDAI/PUCAI score (p<0.05), incidence of surgery per year (p<0.05), and hospitalization per year (p<0.05) were higher in the monogenic IBD group than in the other IBD groups. Additionally, the proportion of children whose weight and height were less than the 3rd percentile (p<0.05 and p<0.05, respectively) was also higher in the monogenic IBD group. Conclusion: Monogenic IBD showed more severe clinical manifestations than the other groups.

• Childhood Kidney Diseases
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• v.22 no.1
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• pp.12-16
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• 2018

Herlyn-Werner-Wunderlich (HWW) syndrome is a rare congenital malformation syndrome that is characterized by a triad of uterine didelphys, blind hemivagina, and ipsilateral renal agenesis. There is a wide variety of phenotypic presentation which is recognized as a spectrum of disease rather than a separate entity. The exact incidence and pathogenesis of HWW syndrome are yet to be investigated. While this disease typically involves adolescent girls who present with abdominal pain or a pelvic mass that is secondary to hematocolpos, nowadays, a majority of potential patients with HWW are being prenatally screened for renal anomalies. Therefore, it is recommended to search for uterovaginal anomalies whenever a multicystic dysplastic kidney or the absence of a kidney is noted in a newborn female, and the role of pediatric nephrologists has become ever more important for early recognition of the disease.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.21 no.1
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• pp.1-6
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• 2021

Among the various etiologies of cardiomyopathy, inborn errors of metabolism (IEM) is one of the underlying causes, especially in the pediatric population. The accurate identification of the IEM of cardiomyopathy may lead to better prognosis through disease-specific management. Therefore, clinicians should always keep in mind the possibility that IEM may be one of the underlying etiologies of cardiomyopathy, and carry out multi-systematic clinical approach to diagnosis of IEM. This review covers the pathophysiology, clinical presentations, typical laboratory findings, diagnosis, and proper treatment of each type of IEM-induced cardiomyopathy in pediatric patients to gain a deeper understanding of this subject.

• Childhood Kidney Diseases
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• v.27 no.2
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• pp.55-63
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• 2023

In 2021, a new chapter on the general management of glomerulonephritis (GN) was added to the Kidney Disease: Improving Global Outcomes (KDIGO). It emphasizes the importance of early general management of GN for improving long-term kidney outcomes and prognosis. The chapter introduces the management of glomerular diseases in 18 subchapters. Here, kidney biopsy for the diagnosis and evaluation of kidney function and the management of complications, such as hypertension, infection, and thrombosis, are presented. Moreover, the adverse effects of glucocorticoids and immunosuppressive therapy, which are commonly used drugs for glomerular disease, are mentioned, and a guideline for drug selection is presented. Each subtheme focused on items reflecting the interpretation of the "practice points" of the expert working group are introduced. In this review of the general treatment for GN in the KDIGO guidelines, excluding pregnancy and reproductive health, we focused on and compared various references pertaining to pediatric GN management.