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Purpose@#The impact of coronavirus 2019 (COVID-19) on gastrointestinal (GI) endoscopy procedures in adults has been reported, with a drastic reduction in the number of procedures.However, there are no sufficient data regarding the impact on pediatric GI endoscopy. Here, we aimed to report that impact in the Asia-Pacific region. @*Methods@#A questionnaire-based internet survey was conducted from June to November 2021 among pediatric endoscopy institutions in the Asia-Pacific region, with each institution providing a single response. Overall, 25 questions focused on the impact of the number of procedures conducted, the usage of personal protective equipment (PPE), and endoscopy training programs during the pandemic. @*Results@#A total of 162 institutions across 13 countries in the Asia-Pacific region participated in the study, and 133 (82.1%) institutions underwent procedure changes since the emergence of COVID-19. The number of esophagogastroduodenoscopy and ileocolonoscopy procedures decreased in 118/133 (88.7%) and 112/133 (84.2%) institutions, respectively. Endoscopy for patient with positive COVID-19 in an emergency or urgent cases still carried out in 102/162 (62.9%) institutions. Screening of COVID-19 for all patients before endoscopy was done across 110/162 (67.9%) institutions. PPE recommendations varied among institutions.Pediatric gastrointestinal endoscopy training programs were discontinued in 127/162 (78.4%) institutions. @*Conclusion@#This study reports the impact of the COVID-19 pandemic on pediatric gastrointestinal endoscopy in the Asia-Pacific region. There has been a significant reduction in the number of endoscopic procedures and relevant training programs.
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Purpose@#This study evaluated the accuracy of attenuation imaging (ATI) for the assessment of hepatic steatosis in pediatric patients, in comparison with the FibroScan vibration-controlled transient elastography controlled attenuation parameter (CAP). @*Methods@#Consecutive pediatric patients referred for evaluation of obesity who underwent both ATI and FibroScan between February 2020 and September 2021 were included. The correlation between attenuation coefficient (AC) and CAP values was assessed using the Spearman test. The AC cutoff value for discriminating hepatic steatosis corresponding to a CAP value of 241 dB/m was calculated. Multivariable linear regression analysis was performed to estimate the strength of the association between AC and CAP. The diagnostic accuracy of AC cutoffs was estimated using the imperfect gold-standard methodology based on a two-level Bayesian latent class model. @*Results@#Seventy patients (median age, 12.5 years; interquartile range, 11.0 to 14.0 years; male:female, 58:12) were included. AC and CAP showed a moderate-to-good correlation (ρ =0.646, P<0.001). Multivariable regression analysis affirmed the significant association between AC and CAP (P<0.001). The correlation was not evident in patients with a body mass index ≥30 kg/m2 (ρ=-0.202, P=0.551). Linear regression revealed that an AC cutoff of 0.66 dB/cm/MHz corresponded to a CAP of 241 dB/m (sensitivity, 0.93; 95% confidence interval [CI], 0.85 to 0.98 and specificity, 0.87; 95% CI, 0.56 to 1.00). @*Conclusion@#ATI showed an acceptable correlation with CAP values in a pediatric population, especially in patients with a body mass index <30 kg/m2. An AC cutoff of 0.66 dB/cm/MHz, corresponding to a CAP of 241 dB/m, can accurately diagnose hepatic steatosis.
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Background/Aims@#Although pediatric ulcerative colitis (UC) has a different phenotype and clinical course than adult UC, its clinical features and outcomes are poorly defined, especially in Asian populations. This study investigated the clinical features and long-term outcomes of pediatric UC in a Korean population. @*Methods@#We retrospectively analyzed 208 patients aged <18 years diagnosed with UC between 1987 and 2013. The patient characteristics at diagnosis according to the Paris classification and the clinical course were analyzed. @*Results@#The male-to-female ratio was 1.3:1, and the median patient age was 15.5 years. At diagnosis, 28.8% of patients had proctitis (E1), 27.8%, left-sided colitis (E2); 5.2%, extensive colitis (E3); and 38.2%, pancolitis (E4). The cumulative probabilities of extension after 5, 10, 15, and 20 years were 32.7%, 40.4%, 52.5%, and 65.8%, respectively. Eighteen patients underwent colectomy, and three patients had colorectal cancer. The cumulative probabilities of colectomy after 5, 10, 15, and 20 years were 7.1%, 8.9%, 12.6%, and 15.6%, and those of colorectal cancer after 10, 15, and 20 years were 0%, 2.1%, and 12.0%, respectively. The disease extent, Pediatric Ulcerative Colitis Activity Index severity, and systemic corticosteroid therapy were significant risk factors for colectomy. The development of primary sclerosing cholangitis was significantly associated with colorectal cancer. @*Conclusions@#This study provides detailed information on the disease phenotype and long-term clinical outcomes in a large cohort of Korean children with UC. They have extensive disease at diagnosis, a high rate of disease extension, and a low rate of cumulative colectomy.
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Purpose@#Despite aggressive medical and nutritional management, patients with methylmalonic acidemia (MMA) often suffer from multi-organ damage. Early deceased donor liver transplantation (DDLT) has emerged as an intervention to prevent disease progression. We investigated the efficacy of living donor LT (LDLT) with a potential carrier of MMA and a small volume of graft in patients with MMA as an alternative to DDLT. @*Methods@#Of five patients (three male, two female; median age 5.7 years; range, 1.3–13.7 years), four underwent carrier LDLT, while one underwent non-carrier auxiliary LDLT. All patients received pre- and post-LT continuous renal replacement therapy and were provided with minimal restriction diet according to serum MMA level after LT. MMA levels in the serum and urine, the incidence of metabolic crisis, and clinical findings before and after LT were compared. @*Results@#The survival rate was 100% during 2.2 years of follow up period after LT. In all five cases, MMA titer in the serum after transplantation decreased with less restrictive diet. Metabolic crisis was not observed during the follow-up period. In addition, no patient showed progression of severe renal impairment requiring hemodialysis. Progression of delayed cognitive development was not observed. Social functioning with improved neuropsychiatric development was observed. @*Conclusion@#This study showed that LDLT achieved improved quality of life with less restrictive diet, therefore it could be a feasible alternative option to DDLT for the treatment of patients with MMA, even with an auxiliary LT.
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Purpose@#Autologous adipose tissue-derived stem cells (ASCs) have been proposed for patients with refractory Crohn disease, but research is lacking in pediatric patients. This Phase IV study evaluated the efficacy and safety of ASCs in children with refractory Crohn’s fistulae. @*Methods@#Patients with a refractory Crohn’s fistula who did not have conventional therapy for more than 3 months or with a recurrent complex Crohn’s fistula were included. All patients were at least 14 years old. Patients with infection, poor condition, or active Crohn disease with a disease activity index of 450 and above were excluded. Five patients were treated with ASCs from 2014 to 2015 in Asan Medical Center. ASC administration was adjusted according to fistula size (1 mL per cm 2 ). We evaluated the efficacy and safety 8 weeks after injection and followed patients for 6 months. @*Results@#Fistulae were healed in 4 patients by 8 weeks after ASC injection. Of these 4 patients, 1 had complete fistula closure and sustainability after 6 months. The other 3 with healing effects had less than 50% fistula closure by 6 months.None of these 4 patients have persistent fistulae. One patient had no healing effect, and seton ligation was performed 8 months after ASC injection. There were no adverse effects related to ASC administration. @*Conclusion@#ASC therapy is a simple and well-tolerated therapeutic option for children with refractory Crohn’s complex fistulae. Complete closure was well-sustained. However, more data from a larger number of patients are needed.
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Purpose@#Despite aggressive medical and nutritional management, patients with methylmalonic acidemia (MMA) often suffer from multi-organ damage. Early deceased donor liver transplantation (DDLT) has emerged as an intervention to prevent disease progression. We investigated the efficacy of living donor LT (LDLT) with a potential carrier of MMA and a small volume of graft in patients with MMA as an alternative to DDLT. @*Methods@#Of five patients (three male, two female; median age 5.7 years; range, 1.3–13.7 years), four underwent carrier LDLT, while one underwent non-carrier auxiliary LDLT. All patients received pre- and post-LT continuous renal replacement therapy and were provided with minimal restriction diet according to serum MMA level after LT. MMA levels in the serum and urine, the incidence of metabolic crisis, and clinical findings before and after LT were compared. @*Results@#The survival rate was 100% during 2.2 years of follow up period after LT. In all five cases, MMA titer in the serum after transplantation decreased with less restrictive diet. Metabolic crisis was not observed during the follow-up period. In addition, no patient showed progression of severe renal impairment requiring hemodialysis. Progression of delayed cognitive development was not observed. Social functioning with improved neuropsychiatric development was observed. @*Conclusion@#This study showed that LDLT achieved improved quality of life with less restrictive diet, therefore it could be a feasible alternative option to DDLT for the treatment of patients with MMA, even with an auxiliary LT.
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Purpose@#Autologous adipose tissue-derived stem cells (ASCs) have been proposed for patients with refractory Crohn disease, but research is lacking in pediatric patients. This Phase IV study evaluated the efficacy and safety of ASCs in children with refractory Crohn’s fistulae. @*Methods@#Patients with a refractory Crohn’s fistula who did not have conventional therapy for more than 3 months or with a recurrent complex Crohn’s fistula were included. All patients were at least 14 years old. Patients with infection, poor condition, or active Crohn disease with a disease activity index of 450 and above were excluded. Five patients were treated with ASCs from 2014 to 2015 in Asan Medical Center. ASC administration was adjusted according to fistula size (1 mL per cm 2 ). We evaluated the efficacy and safety 8 weeks after injection and followed patients for 6 months. @*Results@#Fistulae were healed in 4 patients by 8 weeks after ASC injection. Of these 4 patients, 1 had complete fistula closure and sustainability after 6 months. The other 3 with healing effects had less than 50% fistula closure by 6 months.None of these 4 patients have persistent fistulae. One patient had no healing effect, and seton ligation was performed 8 months after ASC injection. There were no adverse effects related to ASC administration. @*Conclusion@#ASC therapy is a simple and well-tolerated therapeutic option for children with refractory Crohn’s complex fistulae. Complete closure was well-sustained. However, more data from a larger number of patients are needed.
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Button battery ingestion requires emergency endoscopic removal since severe complications, such as esophageal perforation, can develop within 4 hours of the ingestion. Given that guardians do not witness the children’s foreign body ingestion 40% of the time, physicians can only guess what was swallowed based on plain radiography. We report a case of a 45-month-old-boy who visited the emergency department after swallowing an unknown foreign body and whose radiographs showed “circle-within-a-circle appearance” on the anteroposterior view and “step-off appearance” on the lateral view, suggesting button battery ingestion. We conducted emergency endoscopic removal, and found stacked coins mimicking a button battery on the radiographs. The coins were pushed into the stomach and came out through defecation 3 weeks later without further complications. Distinguishing between stacked coins and a button battery through radiography may help avoid unnecessary emergency endoscopy.
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Background/Aims@#Recently, the treatment of Crohn’s disease (CD) has changed to a treat-totarget strategy, in which disease progression is prevented with early intervention. We analyzed the long-term evolution of nonstricturing, nonpenetrating (B1) disease at diagnosis and factors related to disease evolution in pediatric CD. @*Methods@#We retrospectively analyzed 402 patients between 2000 and 2013 who were younger than 18 years and had B1 disease at CD diagnosis. The median follow-up was 6.1 years (range, 1 to 13 years). The cumulative probabilities of developing stricturing (B2) or penetrating (B3) disease and associations between risk factors and disease behavior evolution were evaluated. @*Results@#Among the 402 patients, 75 (18.7%) had B2 or B3 disease by the final follow-up. The cumulative probabilities of disease behavior evolution were 18.3%, 34.3%, and 50.9% at 5, 10, and 13 years, respectively. Patients whose disease progressed had an increased risk of intestinal resection (hazard ratio [HR], 3.61; 95% confidence interval [CI], 2.25 to 6.03; p<0.001). Firstdegree family history of inflammatory bowel disease (HR, 2.38; 95% CI, 1.07 to 5.28; p=0.032), isolated ileal involvement at diagnosis (HR, 7.55; 95% CI, 1.04 to 15.57; p=0.045), and positive anti-Saccharomyces cerevisiae antibody titers (HR, 2.10; 95% CI, 1.03 to 4.25; p=0.040) were associated with disease behavior evolution. Early treatment with biologics significantly reduced disease progression (HR, 0.46; 95% CI, 0.79 to 3.39; p=0.042). @*Conclusions@#This study suggests that early aggressive therapy should be considered in B1 behavior pediatric CD patients with risk factors of disease evolution to improve long-term outcomes
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BACKGROUND: Progressive familial intrahepatic cholestasis (PFIC) is a heterogeneous group of autosomal recessive liver diseases that present as neonatal cholestasis. Little is known of this disease in Korea. METHODS: The records of five patients histologically diagnosed with PFIC, one with PFIC1 and four with PFIC2, by liver biopsy or transplant were reviewed, and ATP8B1 and ABCB11 mutation status was analyzed by direct DNA sequencing. Clinicopathological characteristics were correlated with genetic mutations. RESULTS: The first symptom in all patients was jaundice. Histologically, lobular cholestasis with bile plugs was the main finding in all patients, whereas diffuse or periportal cholestasis was identified only in patients with PFIC2. Giant cells and ballooning of hepatocytes were observed in three and three patients with PFIC2, respectively, but not in the patient with PFIC1. Immunostaining showed total loss of bile salt export pump in two patients with PFIC2 and focal loss in two. Lobular and portal based fibrosis were more advanced in PFIC2 than in PFIC1. ATP8B1 and ABCB11 mutations were identified in one PFIC1 and two PFIC2 patients, respectively. One PFIC1 and three PFIC2 patients underwent liver transplantation (LT). At age 7 months, one PFIC2 patient was diagnosed with concurrent hepatocellular carcinoma and infantile hemangioma in an explanted liver. The patient with PFIC1 developed steatohepatitis after LT. One patient showed recurrence of PFIC2 after 10 years and underwent LT. CONCLUSIONS: PFIC is not rare in patients with neonatal cholestasis of unknown origin. Proper clinicopathologic correlation and genetic testing can enable early detection and management.
Subject(s)
Humans , Bile , Biopsy , Carcinoma, Hepatocellular , Cholestasis , Cholestasis, Intrahepatic , Fatty Liver , Fibrosis , Genetic Testing , Giant Cells , Hemangioma , Hepatocytes , Jaundice , Korea , Liver , Liver Diseases , Liver Transplantation , Recurrence , Sequence Analysis, DNAABSTRACT
Progressive familial intrahepatic cholestasis (PFIC) is a group of severe genetic disorders, inherited in an autosomal recessive manner, causing cholestasis of hepatocellular origin, later progressing to biliary cirrhosis and liver failure. This is the first report of PFIC type 1 with novel compound heterozygous mutations in Korea. The patient was presented with intrahepatic cholestasis, a normal level of serum γ-glutamyl transferase, steatorrhea, and growth failure. Genetic testing of this patient revealed novel compound heterozygous mutations (p.Glu585Ter and p.Leu749Pro) in the ATP8B1 gene. After a liver transplantation at age 19 months, the patient developed severe post-transplant steatohepatitis.
Subject(s)
Child , Humans , Cholestasis , Cholestasis, Intrahepatic , Fatty Liver , Genetic Testing , Korea , Liver Cirrhosis, Biliary , Liver Failure , Liver Transplantation , Steatorrhea , TransferasesABSTRACT
Oxysterol 7α-hydroxylase deficiency is a very rare liver disease categorized as inborn errors of bile acid synthesis, caused by CYP7B1 mutations. As it may cause rapid progression to end-stage liver disease even in early infancy, a high index of suspicion is required to prevent fatal outcomes. We describe the case of a 3-month-old boy with progressive cholestatic hepatitis and severe hepatic fibrosis. After excluding other etiologies for his early liver failure, we found that he had profuse urinary excretion of 3β-monohydroxy-Δ5-bile acid derivatives by gas chromatography/mass spectrometry analysis with dried urine spots on filter paper. He was confirmed to have a compound heterozygous mutation (p.Arg388Ter and p.Tyr469IlefsX5) of the CYP7B1 gene. After undergoing liver transplantation (LT) from his mother at 4 months of age, his deteriorated liver function completely normalized, and he had normal growth and development until the current follow-up at 33 months of age. We report the first Korean case of oxysterol 7α-hydroxylase deficiency in the youngest infant reported to undergo successful living donor LT to date.
Subject(s)
Humans , Infant , Male , Bile , Bile Acids and Salts , Fatal Outcome , Fibrosis , Follow-Up Studies , Growth and Development , Hepatitis , Liver , Liver Diseases , Liver Failure , Liver Transplantation , Living Donors , Mothers , Spectrum AnalysisABSTRACT
Pediatric esophagogastroduodenoscopy (EGD) has become an established diagnostic and therapeutic modality in pediatric gastroenterology. Effective sedation strategies have been adopted to improve patient tolerance during pediatric EGD. For children, safety is a fundamental consideration during this procedure as they are at a higher risk of severe adverse events from procedural sedation compared to adults. Therefore, a detailed risk evaluation is required prior to the procedure, and practitioners should be aware of the benefits and risks associated with sedation regimens during pediatric EGD. In addition, pediatric advanced life support by endoscopists or immediate intervention by anesthesiologists should be available in the event that severe adverse events occur during pediatric EGD.
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Adult , Child , Humans , Endoscopy, Digestive System , Gastroenterology , Risk AssessmentABSTRACT
PURPOSE: To evaluate the outcomes of a hybrid prophylactic strategy to prevent cytomegalovirus (CMV) disease in pediatric liver transplantation (LT) patients. METHODS: CMV DNAemia was regularly monitored by quantitative nucleic acid amplification test (QNAT) and was quantified in all children. CMV infection and disease were defined according to the International Consensus Guidelines. The hybrid strategy against CMV infection consisted of universal 3-week prophylaxis and preemptive treatment of intravenous ganciclovir regardless of the recipient's serostatus. RESULTS: A total of 143 children who underwent living donor LT were managed using the hybrid strategy. The overall incidence of CMV infection by QNAT was 48.3% (n=69/143). The highest CMV DNAemia positivity was observed in 49.2% (n=60/122) of children in the D+/R+ group, followed by 46.7% (n=7/15) in the D+/R− group. CMV disease was noted in 26.1% (n=18/69) patients. Forty-three (62.3%) children had undergone preemptive therapy consisting of intravenous ganciclovir. No symptomatic patients developed tissue-invasive disease, resulting in no CMV-associated mortality. CONCLUSION: The incidence of CMV infection was high in pediatric LT patients despite the hybrid strategy. However, tissue-invasive disease in pediatric LT did not occur.
Subject(s)
Child , Humans , Consensus , Cytomegalovirus Infections , Cytomegalovirus , Ganciclovir , Incidence , Liver Transplantation , Liver , Living Donors , Mortality , Nucleic Acid Amplification TechniquesABSTRACT
PURPOSE: Studies on the efficacy of infliximab (IFX) in a large population of pediatric patients with Crohn's disease (CD) are limited, and prognostic factors are not well-known. The aim of this study was to evaluate outcomes of IFX in pediatric patients with CD and to identify factors associated with poor prognosis. METHODS: We retrospectively analyzed medical data of 594 pediatric patients with CD between 1987 and 2013 in a tertiary center. Of these, 156 children treated with IFX were enrolled and were followed up for at least a year with intact data. Outcomes of induction and maintenance, classified as failure or clinical response, were evaluated on the tenth and 54th week of IFX therapy. RESULTS: We treated 156 pediatric patients with CD with IFX, and the median duration of IFX therapy was 47 months. For IFX induction therapy, 134 (85.9%) patients experienced clinical response on the 10th week. Among the 134 patients who showed response to induction, 111 (82.8%) patients maintained the clinical response on the 54th week. In multivariate analysis, low hematocrit (p=0.046) at the time of IFX initiation was associated with the failure of IFX induction. For IFX maintenance therapy, longer duration from the initial diagnosis to IFX therapy (p=0.017) was associated with maintenance failure on the 54th week. CONCLUSION: We have shown the acceptable outcomes of IFX in a large cohort of pediatric CD patients in Korea. Hematocrit and early introduction of IFX may be prognostic factors for the outcomes of IFX.
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Child , Humans , Cohort Studies , Crohn Disease , Diagnosis , Hematocrit , Infliximab , Korea , Multivariate Analysis , Prognosis , Retrospective StudiesABSTRACT
PURPOSE: Studies on the efficacy of infliximab (IFX) in a large population of pediatric patients with Crohn's disease (CD) are limited, and prognostic factors are not well-known. The aim of this study was to evaluate outcomes of IFX in pediatric patients with CD and to identify factors associated with poor prognosis. METHODS: We retrospectively analyzed medical data of 594 pediatric patients with CD between 1987 and 2013 in a tertiary center. Of these, 156 children treated with IFX were enrolled and were followed up for at least a year with intact data. Outcomes of induction and maintenance, classified as failure or clinical response, were evaluated on the tenth and 54th week of IFX therapy. RESULTS: We treated 156 pediatric patients with CD with IFX, and the median duration of IFX therapy was 47 months. For IFX induction therapy, 134 (85.9%) patients experienced clinical response on the 10th week. Among the 134 patients who showed response to induction, 111 (82.8%) patients maintained the clinical response on the 54th week. In multivariate analysis, low hematocrit (p=0.046) at the time of IFX initiation was associated with the failure of IFX induction. For IFX maintenance therapy, longer duration from the initial diagnosis to IFX therapy (p=0.017) was associated with maintenance failure on the 54th week. CONCLUSION: We have shown the acceptable outcomes of IFX in a large cohort of pediatric CD patients in Korea. Hematocrit and early introduction of IFX may be prognostic factors for the outcomes of IFX.
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Child , Humans , Cohort Studies , Crohn Disease , Diagnosis , Hematocrit , Infliximab , Korea , Multivariate Analysis , Prognosis , Retrospective StudiesABSTRACT
PURPOSE: Exclusive enteral nutrition (EEN) therapy effectively induces clinical remission in Crohn's disease (CD). It remains unclear, however, whether partial enteral nutrition (PEN) can maintain remission. This study was performed to determine the abilities of oral EEN and oral PEN to induce and maintain clinical remission in pediatric patients with CD, respectively. MATERIALS AND METHODS: Pediatric patients with CD who received oral EEN at a single center in 2000-2014 were identified retrospectively. Remission rates of the EEN and PEN during the 2 years study period were determined. Risk factors for EEN and PEN failure were identified. RESULTS: Of the 66 patients who started EEN, 61 (92%) completed the course. Clinical remission was achieved in 88% (58/66) of the patients. All 58 patients with remission continued with PEN: 43 (74%) were treatment adherent. The cumulative remission rates at 1 and 2 years were 67% and 52%, respectively. Differing from EEN, limited therapeutic efficacy of PEN was shown in severe CD patients. Female gender associated significantly with non-adherence. CONCLUSION: Oral EEN and PEN effectively induced and maintained remission in a pediatric population. Non-adherence was a limiting factor in the success of therapy.
Subject(s)
Adolescent , Child , Female , Humans , Male , Crohn Disease/therapy , Enteral Nutrition/methods , Remission Induction , Retrospective StudiesABSTRACT
PURPOSE: Metabolic liver disease (MLD) often progresses to life-threatening conditions. This study intends to describe the outcomes of liver transplantation (LTx) for MLD at a living donor-dominant transplantation center where potentially heterozygous carrier grafts are employed. METHODS: We retrospectively evaluated the medical records of 54 patients with MLD who underwent LTx between November 1995 and February 2012 at Asan Medical Center in Seoul, Korea. The cumulative graft and patient survival rates were analyzed according to patient age, and living or deceased donor LTx. Recurrence of the original disease was also investigated. RESULTS: The post-transplant cumulative patient survival rates at one, five, and 10 years were 90.7%, 87.5% and 87.5%, and the graft survival rates were 88.8%, 85.5%, and 85.5%, respectively. There were no differences in the patient survival rates according to the recipient age, human leukocyte antigen matching, and living or deceased donor LTx. There were also no differences in the patient survival rates between the MLD and the non-MLD groups for children. Recurrence of the original metabolic disease was not observed in any patient during the follow-up period. CONCLUSION: Our results suggest that the living donor-dominant transplantation program is well-tolerated in MLD without recurrence of the original MLD using all types of transplantation.
Subject(s)
Adult , Child , Humans , Follow-Up Studies , Graft Survival , Korea , Leukocytes , Liver Diseases , Liver Transplantation , Living Donors , Medical Records , Metabolic Diseases , Recurrence , Retrospective Studies , Seoul , Survival Rate , Tissue Donors , TransplantsABSTRACT
PURPOSE: Primary sclerosing cholangitis (PSC) is a rare condition that can be associated with inflammatory bowel disease (IBD). The aim of this study was to evaluate PSC and its association with IBD in children. METHODS: We retrospectively enrolled 13 pediatric patients (<18 years) with PSC treated at Asan Medical Center between June 1989 and December 2013. Clinical findings and long-term outcomes were investigated. During the same period, the incidence of PSC among IBD patients was evaluated among 600 Crohn disease (CD) and 210 ulcerative colitis (UC) patients. RESULTS: All 13 study patients diagnosed with PSC also presented with IBD. Eleven boys and two girls with a median age of 15.0 years old (9.0-17.8 years) were included. The cumulative incidence of PSC for UC was 5.7% (12 of 210) and 0.2% for CD (1 of 600), respectively. PSC occurred during follow-up for IBD for five patients (38.5%) whereas, IBD developed during follow-up for PSC for two patients (15.4%), and was diagnosed during the initial work-up for PSC for 6 patients (46.2%). For the 77.3 month median follow-up period, 9/13 patients (69.2%), neither the clinical symptoms nor blood test results worsened. Two cases (15.4%) developed liver cirrhosis and underwent liver transplantation. Among 13 PSC patients with IBD, two (15.4%) developed colorectal cancer, and no one developed cholangiocarcinoma. CONCLUSION: All patients with PSC in this study had associated IBD. The incidence of PSC was not rare compared to reports in adults. PSC should be considered during the management of IBD and vice versa in children.
Subject(s)
Adult , Child , Female , Humans , Cholangiocarcinoma , Cholangitis, Sclerosing , Colitis, Ulcerative , Colorectal Neoplasms , Crohn Disease , Follow-Up Studies , Hematologic Tests , Incidence , Inflammatory Bowel Diseases , Liver Cirrhosis , Liver Transplantation , Retrospective StudiesABSTRACT
BACKGROUND/AIMS: The aim of this study was to identify the profile of rare variants associated with Crohn's disease (CD) using whole exome sequencing (WES) analysis of Korean children with CD and to evaluate whether genetic profiles could provide information during medical decision making. METHODS: DNA samples from 18 control individuals and 22 patients with infantile, very-early and early onset CD of severe phenotype were used for WES. Genes were filtered using panels of inflammatory bowel disease (IBD)-associated genes and genes of primary immunodeficiency (PID) and monogenic IBD. RESULTS: Eighty-one IBD-associated variants and 35 variants in PID genes were revealed by WES. The most frequently occurring variants were carried by nine (41%) and four (18.2%) CD probands and were ATG16L2 (rs11235604) and IL17REL (rs142430606), respectively. Twenty-four IBD-associated variants and 10 PID variants were predicted to be deleterious and were identified in the heterozygous state. However, their functions were unknown with the exception of a novel p.Q111X variant in XIAP (X chromosome) of a male proband. CONCLUSIONS: The presence of many rare variants of unknown significance limits the clinical applicability of WES for individual CD patients. However, WES in children may be beneficial for distinguishing CD secondary to PID.