• Clinical and Experimental Pediatrics
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• 제56권10호
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• pp.456-458
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• 2013

Cystic fibrosis (CF) is a genetic disease with autosomal recessive inheritance and is common in Caucasian people. The prevalence of this disease is between 1/2,000 and 1/3,500 live births, and the incidence varies between populations. Although the CF transmembrane conductance regulator gene is expressed in the kidneys, renal involvement is rare. With advances in the treatment of CF, life expectancy has increased, and some previously unobserved disease associations are now seen in patients with CF. It is important to follow patients with CF for possible abnormalities that may accompany CF. In this paper, we present two rare cases of CF accompanied by nephrotic syndrome.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제25권3호
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• pp.218-227
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• 2022

Purpose: To analyze the characteristics of pediatric inflammatory bowel disease (IBD) over the past three decades in Argentina and determine if there are differences between the first two decades and the past decade. Methods: We conducted a retrospective multicenter analytical study in children with IBD between 0 and 18 years of age diagnosed between 1987 and 2017 in three tertiary health centers in Argentina. The evaluation included clinical characterization, endoscopy, histology, and imaging data together with therapeutic strategies. The patients were divided into two groups: Group 1, diagnosed between 1987 and 2007, and Group 2, diagnosed between 2008 and 2017. Results: Of the 756 patients included, 409 (54%) had ulcerative colitis (UC), 250 (33%) had Crohn's disease (CD), and 97 (13%) had IBD-unclassified (IBD-U). The positive family history was 3.8%, which was more frequent among children under two years of age (6.7%). There were no significant differences in clinical presentation and extraintestinal manifestations between periods, with hepatic manifestations being the most frequent. In the last decade, we found an upward trend in CD, a downward trend in UC/IBD-U, even after adjustment for socioeconomic status, and a decrease of 50% in surgical treatments coinciding with the advent of biological therapy. Conclusion: This is the first multicenter cohort study in a Latin American country to describe clinical, endoscopic, and therapeutic data across the past 30-year period. Although CD was responsible for the overall increase in incidence, UC was still prevalent in this region.

• Advances in pediatric surgery
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• 제8권1호
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• pp.68-70
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• 2002

Enterocolitis associated with Hirschsprung's disease has been a major cause of morbidity and even mortality, and before and after definitieve surgical treatment. It shows typical clinical characteristics, however, its pathogenesis has been poorly understood. Treatment is diverse, and consists of conservative tertment with intravenous hydration, antibiotics and rectal wash out, and surgical tertment with temporatory enterostomy, and other surgical procedures.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제16권4호
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• pp.269-272
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• 2013

Association between celiac disease and intussusception has been reported in adult. Although intussusception is common in children, it rarely has been reported in association with celiac disease. Two children, 5 and 7 years old, with celiac disease are reported here, whose initial presentation was intussusception prior to investigation for concomitant failure to thrive. They presented with acute and severe abdominal distention with vomiting, and donuts and pseudo- kidney appearance in abdominal ultrasonography. One patient's intussusception had reducted spontaneously, however the other had required surgery. In investigation for concomitant failure to thrive, tissue transglutaminase levels were very high and duodenal biopsies revealed celiac disease. Thus celiac testing is recommended in children with intussusception and growth failure.

• Advances in pediatric surgery
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• 제10권1호
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• pp.60-62
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• 2004

Leveling colostomy with a frozen-section biopsy in a Hirschsprung's disease is an important factor for a successful procedure. Two neonatal cases of Hirschsprung's disease in the descending colon are reported. In both cases, loop ileostomy was established because of the unavailability of frozen-section biopsy on an emergency basis. At the time of definitive procedure of the first case, transition zone at the splenic flexure was noted and was compatible with the frozen section biopsy. In the second case, an unexpected longer resection at a higher level than transition zone was required because of the poor vascularity after dissection. In conclusion, a leveling colostomy should be selected as a choice in long-segment Hirschsprung's disease. Confirming preservation of the marginal artery of Drummond is particularly important in case of Hirschsprung's disease in the descending colon.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제26권3호
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• pp.165-172
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• 2023

Crohn's disease (CD) is a chronic, incurable and relapsing disease involving any part of the gastrointestinal tract and exclusive enteral nutrition (EEN) is first-line therapy. Few studies have examined the patient experience of EEN. The aim of this study was to assess the child's experiences of EEN, to identify problematic themes and understand the child's mindset. Children with CD who previously completed EEN were recruited to complete a survey. All data were analyzed using Microsoft Excel and reported as N (%). Forty-four children (mean age 11.3 years) consented to participate. Sixty-eight percent of children reported limited formula flavors as the most challenging aspect and 68% of children identified 'support' to be important. This study highlights the psychological impact of chronic disease and its therapies on children. Providing adequate support is essential to insure EEN is successful. Further studies are required to determine psychological support strategies for children taking EEN.

• Advances in pediatric surgery
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• 제7권1호
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• pp.15-20
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• 2001

The pathophysiology of Hirschsprung's disease (HD) is not fully understood, but recent studies have disclosed that neural cell adhesion molecule (NCAM) and glial cell line-derived neurotrophic factor (GDNF) play important roles in the formation of aganglionic bowel of Hirschsprung's disease. To evaluate the roles of NCAM and GDNF in HD, immunohistochemical analysis was performed using formalin-fixed and paraffin-embedded tissue sections. On the basis of the results, we tried to evaluate them as diagnostic markers. The specimens were obtained from 7 patients with HD who underwent modified Duhamel operation. The diagnosis was based on the clinical findings and the absence of ganglion cells in the nerve plexuses by routine microscopy. NCAM immunoreactivity was found in the nerve plexuses and scattered nerve fibers in the smooth muscle layers of ganglionic segments. In aganglionic segments, the number of NCAM positive nerve fibers in the smooth muscle layers was significantly reduced compared with ganglionic segments. In two cases the nerve plexuses in aganglionic segments, NCAM was negligible. The smooth muscle cells showed diffuse immunoreactivity for GDNF and the staining intensity was not different in the aganglionic and ganglionic segments. However, higher expression of GDNF in the nerve plexus of the ganglionic segments was noted comparing to aganglionic segments. These data suggest that both NCAM and GDNF may play important roles in pathogenesis of Hirschsprung's disease and immunohistochemical staining for NCAM can be used as an ancillary diagnostic tool for HD.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제26권4호
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• pp.173-180
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• 2023

Purpose: Gastro esophageal reflux disease (GERD) is a burdensome disease affecting many children. A clinical examination is reported to be unreliable to diagnose GERD in children. This study aimed to investigate the relationship between the Pediatric Gastroesophageal Reflux Disease Symptom and Quality of Life Questionnaire (PGSQ) and endoscopic and histopathological findings in children with symptoms suggesting GERD. Changes in the PGSQ score in children with esophagitis as response to one month therapy were recorded as secondary outcome. Methods: This is a prospective cohort study in the pediatric outpatient clinic in an Indonesian tertiary hospital. Children aged 2-17 years old with clinical symptoms suspected of GERD are included in the study. Blinded endoscopic and histopathological examination was performed in all patients before one month proton pump inhibitors (PPI) therapy. The PGSQ information was collected at inclusion and after one month PPI treatment. Results: Fifty-eight subjects were included. Esophagitis was found in 60.9% of subjects according to endoscopy and 58.6% according to histology. There was no significant relationship between the PGSQ score and endoscopic (p=0.781) nor biopsy (p=0.740) examinations. The PGSQ showed a low diagnostic value compared to endoscopy and biopsy (area under the curve [AUC] 0.477, p=0.477, 95% confidence interval [CI] 0.326-0.629 and AUC 0.474, p=0.740 (95% CI 0.321-0.627 respectively). The PGSQ improved significantly post one month of PPI treatment. Conclusion: The PGSQ cannot be used to diagnose esophagitis in children with clinical symptoms suggesting GERD. However, the PGSQ can be used to monitor the treatment response in children with esophagitis.

• Clinical and Experimental Pediatrics
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• 제60권8호
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• pp.237-244
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• 2017

During the last 10 years, there have been major technological achievements in pediatric interventional cardiology. In addition, there have been several advances in cardiac imaging, especially in 3-dimensional imaging of echocardiography, computed tomography, magnetic resonance imaging, and cineangiography. Therefore, more types of congenital heart diseases can be treated in the cardiac catheter laboratory today than ever before. Furthermore, lesions previously considered resistant to interventional therapies can now be managed with high success rates. The hybrid approach has enabled the overcoming of limitations inherent to percutaneous access, expanding the application of endovascular therapies as adjunct to surgical interventions to improve patient outcomes and minimize invasiveness. Percutaneous pulmonary valve implantation has become a successful alternative therapy. However, most of the current recommendations about pediatric cardiac interventions (including class I recommendations) refer to off-label use of devices, because it is difficult to study the safety and efficacy of catheterization and transcatheter therapy in pediatric cardiac patients. This difficulty arises from the challenge of identifying a control population and the relatively small number of pediatric patients with congenital heart disease. Nevertheless, the pediatric interventional cardiology community has continued to develop less invasive solutions for congenital heart defects to minimize the need for open heart surgery and optimize overall outcomes. In this review, various interventional procedures in patients with congenital heart disease are explored.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제21권3호
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• pp.184-188
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• 2018

Purpose: Despite the increasing incidence of pediatric Crohn disease (CD) in Korea, data on the characteristics of perianal lesions are scarce. Therefore, we aimed to investigate the characteristics of pediatric CD with accompanying perianal lesions in Korea. Methods: We retrospectively reviewed the medical records of children (age ${\leq}18$ years) with confirmed CD at Gachon University Gil Medical Center between 2000 and 2014. Patients were classified into two groups based on the presence or absence of any perianal lesions including skin tags. Additional analysis was performed according to the presence or absence of perianal perforating lesions. Results: Among the 69 CD children (mean age, 15.4 years) include in the analysis, 54 (78.3%) had a perianal lesion and 29 (42.0%) had a perianal perforating lesion. The median duration of chief complaints was longer in pediatric CD with any accompanying perianal lesions (5.40 months vs. 1.89 months, p=0.02), while there was no difference between pediatric CD with and without perianal perforating lesions (5.48 months vs. 4.02 months, p=0.18). Perianal symptoms preceded gastrointestinal symptoms in 13 of 29 (44.8%) patients with perianal perforating lesions. Conclusions: CD should be suspected in children with perianal lesions, even in circumstances when gastrointestinal symptoms are absent.