Diagnostic and therapeutic value of endoscopy and mucosal histology for digestive tract diseases in infants / 中华消化内镜杂志

Objectives:To investigate the clinical value of endoscopy and mucosal histology for digestive tract diseases in infants.Methods:Clinical data of 357 infants who underwent 422 gastrointestinal endoscopies from January 2010 to December 2021 were collected. The indications, endoscopic manifestations, histological features of mucosa and diagnosis were analyzed.Results:A total of 159 gastroscopies and 263 colonoscopies were performed. Diarrhea (185 cases), bloody stool (178 cases) and vomiting (46 cases) were common symptoms. Endoscopy showed manifestations including non-specific inflammatory changes (265 cases), ulcer-like changes (72 cases), and normal mucusa (48 cases). A total of 373 biopsies were performed, including 260 cases of abnormal mucosal histology, 109 cases of normal mucosal histology, and 4 cases of too small biopsy specimens for analysis. Diagnoses were 208 cases of anaphylactic disease, 45 cases of inflammatory bowel disease, 15 cases of variation of structure, 10 cases of intestinal lymphangiectasis, 2 cases of autoimmune enteropathy, and 1 case of celiac disease. There was only 1 colonic perforation complicating endoscopy in terms of endoscopic complication.Conclusions:It is safe and effective to perform endoscopy standardly for digestive tract diseases in infants. Endoscopy with biopsies is a greatly informative test for diagnosis in infants.

Clinical features and genetic variants of children with hepatic Wilson′s disease / 中华全科医师杂志

Objective:To analyze the clinical characteristics and genetic variants of children with hepatic Wilson disease (WD).Methods:The clinical data and genetic test results of 35 children, who were diagnosed as WD with primary hepatic manifestation in the Department of Gastroenterology, Children′s Hospital of Capital Institute of Pediatrics from March 2018 to March 2022, were retrospectively analyzed. The relationship between phenotype and genotype of patients was analyzed.Results:Among 35 children, there were 24 males and 11 females with a median age at diagnosis of 5.5 (4.0, 7.5) years. All patients had elevated transaminases. The elevated transaminases was found during routine physical examination in 33 cases (94.3%), in whom there was no fever, cough, recurrent vomiting, abdominal pain, diarrhea, jaundice, limb tremor, gait instability and other discomfort 2 weeks before admission, except 1 case with nausea; abdominal ultrasonography showed that 5 cases (15.2%) had no abnormality, and others had different degrees of hepatomegaly, splenomegaly, and echo enhancement in liver parenchyma. Among the remaining 2 cases, one 11-year-old child presented with edema, and had cirrhosis portal hypertension with esophageal varices; another 7-year-old child was diagnosed as acute liver failure manifested with nausea and jaundice. Thirty three patients(94.3%)had decreased serum ceruloplasmin levels (<100 mg/L); 24-h urinary copper concentration was>100 μg in 16 cases (45.7%) and<40 μg in 2 cases (5.7%). The tests of hepatitis B virus, hepatitis C virus, cytomegalovirus and EB virus were all negative in 35 children, and the autoimmune hepatitis antibodies were also negative. A total of 34 different ATP7B gene mutations were detected; the most frequent mutation was c.2333G>T (P.R778L) at exon 8, followed by c.2621C>T(p.A874V)at exon 11 and c.2621C>T(p.A874V)at exon 13. There was no significant difference in clinical phenotype between patients with nonsense mutation, frameshift mutation or splicing mutation and those with only missense mutations( Z=-1.00, t=-0.16, Z=-1.14, Z=-1.03,all P>0.05). Conclusions:The onset of WD in children is obscure, and clinicians should consider this disease in patients presenting with elevated transaminase. Ceruloplasmin and urine copper should be tested timely, the early diagnosis and treatment can improve the prognosis. And there is no significant correlation between genotype and clinical phenotype.

Clinical features of five children with hepatitis-associated aplastic anaemia / 中国小儿急救医学

Objective:To investigate the clinical characteristics of hepatitis-associated aplastic anaemia(HAAA)in children.Methods:A retrospective analysis was performed on the clinical manifestations, laboratory examinations, treatments and other clinical data of five children with aplastic anemia(AA)diagnosed by bone marrow examination after admission with acute liver dysfunction admitted to the Department of Gastroenterology, Children′s Hospital Affiliated to Capital Institute of Pediatrics from January 2016 to December 2020.Results:All five children were boys and the onset age of these children ranged from 2 to 13 years.All of the five cases were acute onset and presented with jaundice.The time frame of the diagnosis of HAAA was 0 to 12 weeks from the presentation of the liver disease.One patient had simultaneous onset of hepatitis and aplastic anemia.The liver function was significantly improved at the diagnosis of HAAA in three patients and worsen in one patient.Only one patient showed CMV-DNA positive and the pathogen results of other patients were negative.Lymphocyte immunity disorders were found in all five patients, and the proportion of inhibitory/cytotoxic T lymphocytes(CD3 + CD8 + ) increased.Two children received hematopoietic stem cell transplantation, of which one died and one improved after transplantation.One child improved after treated with antithymocyteglobulin and cyclosporin.One child died due to severe infection.There was no significant improvement in one child treated with cyclosporine. Conclusion:HAAA should be alerted in acute hepatitis patients.Blood routine should be monitored even if liver function improves.Bone marrow tests are needed if patients have peripheral cytopenia in two or more lineages.Early and timely treatments with immunosuppressive therapy and hematopoietic stem cell transplantation can improve the prognosis.

Clinical features of pancreatitis in children: a single center retrospective study / 中国小儿急救医学

Objective:To explore the clinical characteristics of children with pancreatitis, aiming to analyze the clinical differences of acute pancreatitis(AP), recurrent acute pancreatitis(RAP)and chronic pancreatitis(CP)in children.Methods:The clinical characteristics of AP, RAP, CP in children admitted to the Department of Gastroenterology at Children′s Hospital Affiliated to Capital Institute of Pediatrics from January 2015 to December 2020 were analyzed.Results:One hundred and nine cases were included in this study, including 69 cases of AP(63.3%), 22 cases of RAP(20.2%)and 18 cases of CP(16.5%). The proportion of school-age and adolescent children was 48.6% and 29.4%, and there was statistical difference between the composition of children at different ages( P<0.001). Idiopathic was the main cause of AP, RAP and CP.The other causes included biliary, viral infection, structural abnormalities, drug-induced, hypercholesterolemia and heredity.97.2%(106 cases)of the children were accompanied by abdominal pain, mainly in middle and upper abdomen(75 cases, 70.8%)and around umbilical cord(22 cases, 20.8%). The pancreatic enlargement in preschool children was mainly diffuse enlargement(11/12), while the older children with local enlargement and diffuse enlargement accounted for the same proportion, the difference was statistically significant( P=0.037). The height score of CP children was lower than the overall average of the population(0 score), and lower than those of AP and RAP children, with statistically significant difference[-0.65(-1.57, 0.25) vs.0.36(-1.03, 1.05) and -0.09(-0.30, 0.41), H=6.021, P=0.044]. Eight (11.6%) cases with AP progressed to RAP, and six (8.7%) cases with AP progressed to CP. Conclusion:Pancreatitis tends to occur in school-age and adolescent children, and idiopathic is the first cause of all types of pancreatitis.AP, RAP, and CP share common features of pancreatitis in terms of etiology composition and clinical manifestations.Compared with AP and RAP, CP is more likely to affect the growth and development of children.Some children with AP could progress to RAP or CP, so we should pay more attention to the etiological investigation of AP and eliminate the etiological factors in time to avoid the disease progression.

Clinical characteristics and high-throughput sequencing analysis of genetic and metabolic infantile cholestatic hepatopathy / 中华实用儿科临床杂志

Objective:To investigate the clinical and genetic characteristics of genetic and metabolic infantile cholestatic hepatopathy (ICH), and to provide evidence for its diagnosis and treatment.Methods:Clinical data and follow-up outcomes of hospitalized children diagnosed with ICH in the Department of Gastroenterology, Children′s Hospital, Capital Institute of Pediatrics from January 2014 to December 2019 were retrospectively analyzed.Among the 80 children, 27 were female and 53 were male, with a mean age of onset of (39±18) days old.Children with confirmed etiology by high-throughput sequencing analysis were included in the genetic metabolic group (44 cases), and those with idiopathic neonatal cholestasis(INC) of unknown etiology after the systematic examination were included in the INC group (36 cases). The t-test or independent sample rank sum test was used to compare the laboratory test results and biochemical indexes.The infection rate of cytomegalovirus was compared by the Chi- square test. Results:(1) A total of 80 cases were included, and 44 cases (55.0%)were confirmed as INC by high-throughput sequencing.Among those with a positive molecular diagnosis, there were 23 cases of citrin deficiency (CD), 10 cases of Alagille syndrome (ALGS), 6 cases of progressive familial intrahepatic cholestasis (PFIC), 2 cases of congenital bile acid synthesis defect, 2 cases of Nieman Pick disease, and 1 case of cystic fibrosis.(2) Serum total bile acid (TBA) and activated partial prothrombin time (APTT) levels in the genetic metabolic group were significantly higher than those in the INC group (all P<0.05). TBA and APTT levels in genetic metabolites were 180.6 (115.5, 271.6) μmol/L and 40.6 (37.1, 45.2) s, respectively, which were 123.3 (98.8, 163.4) μmol/L and 34.8 (31.7, 40.1) s in INC group, respectively.There was no significant difference in the cytomegalovirus infection rate between the 2 groups ( P>0.05). (3)The pathological examination of liver tissue in the genetic metabolic group was worse than that in the INC group, with spot-like and fusion focal-like necrosis, and 5 cases (4 cases of ALGS and 1 case of CD) showed a reduced number of bile ducts in the portal area and lumen stenosis. Conclusions:CD, ALGS and PFIC are the common causes of genetic and metabolic ICH.Fundamental cause of cholestasis should be actively examined in children with cytomegalovirus infection.High-throughput sequencing is of great significance in the accurate diagnosis of ICH.

Analysis of clinical and colonoscopy feature in children with lower gastrointestinal bleeding in a single center / 中国小儿急救医学

Objective:To investigate the clinical characteristics and non-infective etiological characteristics of children with lower gastrointestinal bleeding(LGIB), and to explore the application value of electronic colonoscopy in diagnosis and treatment of LGIB.Methods:A total of 311 cases of children with LGIB admitted to our hospital from June 2016 to June 2020 were analyzed retrospectively, and the relevant clinical data were summarized.Results:The ratio of boys to girls was 1.46∶1.The average age was(4.67±3.99)years old.Preschool children account for 67.85%.A total of 97.75% of the children had bloody stool with naked eyes, mainly with simple bloody stool.The main accompanying symptoms were abdominal pain(31.19%)and diarrhea(24.11%). The positive rate of occult blood test was 55.26%, and the positive rate of colonoscopy was 86.49%.The common causes of LGIB in children were intestinal polyps, colitis, inflammatory bowel disease, allergic colitis, allergic purpura and Meckel′s diverticulum.There were statistical differences in the number of cases of some etiology at different age stages, including colon polyps( P<0.001), colitis( P=0.020), ulcerative colitis( P<0.001), allergic colitis( P<0.001), Henoch-Schonlein purpura( P=0.031)and Behcet′s disease( P=0.033). Allergic colitis was more common in 1~6 months old, and the incidence rate gradually decreased with age.Inflammatory bowel disease was the primary cause of children aged 11~16 years.All children′s bleeding symptoms disappeared after treatment and the occult blood test was negative.The cure rate was 41.80% (130 cases) and the improvement rate was 58.20% (181 cases). Conclusion:The etiology of LGIB in children is complex, and the etiology is related to the age of onset.Intestinal polyps and colitis are the main causes of the disease, which are common in all ages.Colonoscopy is safe and efficient, playing an important role in the diagnosis and treatment of children with LGIB.

Clinical and genotypic characteristics of infantile inflammatory bowel disease / 中华儿科杂志

Objective@#To analyze the clinical and genotypic characteristics of infantile inflammatory bowel disease (IBD).@*Methods@#The age of onset, family history, clinical manifestations, and treatment effect were retrospectively analyzed in 39 infants (male 23 cases, female 16 cases) with IBD who were admitted to the Department of Gastroenterology in Children′s Hospital, Capital Institute of Pediatrics from January 2007 to December 2017. Next generation sequencing (NGS) based on target gene panel was used for gene analysis in 17 patients.@*Results@#The median age of onset was 0.5 (0.5, 1.0) month. The most common clinical symptoms included diarrhea (39, 100%), malnutrition (38, 97%), hematochezia (34, 87%), fever (25, 64%), and perianal diseases (24, 61%). Four children had associated family history. Among the 17 patients whose gene was analyzed, 10 were found to have the pathogenic gene variation, within whom 7 had interleukin-10 receptor α subunit (IL-10RA) mutation, 2 had CYBB heterozygous mutation, 1 had interleukin-10 receptor β subunit (IL-10RB) mutation. The therapeutic medicine included mesalazine, steroids, and thalidomide. Eighteen children (46%) reached clinical remission (10 cases) or partial remission (8 cases).@*Conclusions@#The incidence of single gene mutation in infants with IBD is high, with IL-10RA mutation as the most common. Refractory diarrhea and malnutrition may indicate infantile IBD.

Interleukin-10 receptor gene mutations induced very early onset inflammatory bowel disease in 6 infants / 中华儿科杂志

Objective@#To analyze the clinical features and interleukin-10 receptor gene mutations in six infants with very early onset inflammatory bowel disease (VEO-IBD).@*Methods@#Four girls and two boys with VEO-IBD admitted to Children's Hospital Affiliated to Capital Institute of Pediatrics from June 2016 to September 2017 were reviewed. The clinical data including general condition, clinical symptoms, laboratory tests, and colonoscopy and pathological results were collected and analyzed. Interleukin-10 receptor α subunit (IL-10RA) gene was examined in all patients.@*Results@#Persistent diarrhea and fever were the most common symptoms and were found within 1 month after birth in all 6 patients. Anemia, oral ulcer or perianal lesions and growth retardation were common concomitant symptoms. All patients had colonoscopy examination and the results showed multiple ulcers affecting the colon with biopsies revealing acute and chronic inflammation. Three patients were found to have cryptitis and crypt abscesses. Gene sequencing revealed IL-10RA gene mutations in all six patients, including 3 cases with homozygous mutations (one with c.537G>A and two with c.301C>T) and 3 heterozygous mutations (paternal c.301C>T in all cases; maternal c.299T>G, c.350G>A and c.537G>A, respectively) . After conventional treatment, one got clinical and pathological improvement according to colonoscopy, three improved clinically, one worsened and died, and one died of septic shock secondary to intestinal perforation.@*Conclusions@#VEO-IBD is associated with IL-10RA mutation, usually with severe intestinal symptoms and significant extra-intestinal symptoms, as well as varied responses to conventional treatment. In our study, c.301C>T and c.537G>A are the most common mutations.

Clinical manifestations of celiac disease in two children / 临床儿科杂志

Objective To explore the diagnosis and treatment of celiac disease in children. Method The clinical data of 2 children with celiac disease were analyzed retrospectively. Results Both of them were 8-year and 2-year-old males. Chronic diarrhea and malnutrition were the main manifestations combined with anemia and hypoalbuminemia in both of them. The examinations showed that stool Sultan III staining, anti-endometrial antibody IgA, and anti-gliadin IgA were all positive. Endoscopic examination revealed mucosal lesions in duodenal and small bowel. Pathology showed small intestinal villus atrophy, infiltration of lymphocytes in crypt epithelium, and infiltration of lymphocytes and plasma cells in the lamina propria. Diarrhea was quickly improved in both of them after the gluten diet was avoided, and weight increased significantly. However, one of them failed to maintain a gluten free diet and diarrhea recurred. Conclusions The celiac disease in children is rare in China. It needs to have early diagnosis and treatment, and should be strictly followed by a lifelong gluten free diet.

Clinical manifestations of celiac disease in two children / 临床儿科杂志

Objective To explore the diagnosis and treatment of celiac disease in children. Method The clinical data of 2 children with celiac disease were analyzed retrospectively. Results Both of them were 8-year and 2-year-old males. Chronic diarrhea and malnutrition were the main manifestations combined with anemia and hypoalbuminemia in both of them. The examinations showed that stool Sultan III staining, anti-endometrial antibody IgA, and anti-gliadin IgA were all positive. Endoscopic examination revealed mucosal lesions in duodenal and small bowel. Pathology showed small intestinal villus atrophy, infiltration of lymphocytes in crypt epithelium, and infiltration of lymphocytes and plasma cells in the lamina propria. Diarrhea was quickly improved in both of them after the gluten diet was avoided, and weight increased significantly. However, one of them failed to maintain a gluten free diet and diarrhea recurred. Conclusions The celiac disease in children is rare in China. It needs to have early diagnosis and treatment, and should be strictly followed by a lifelong gluten free diet.

Effects of enteral nutrition on intestinal permeability in patients with active ulcerative colitis / 中华临床营养杂志

ObjectiveTo explore the effects of enteral nutrition (EN) on intestinal permeability in patients with active ulcerative colitis (AUC). MethodsTwenty-four A UC patients were randomly divided into two groups:routine treatment group (n =11 ) and routine treatment plus EN group (n =13). Patients in routine treatment group were treated with mesalazine as well as low-residue diet, while patients in routine treatment plus EN group received mesalazine and short peptide EN for 14 days. The ratio of lactulose to mannitol in urine (L/M) before and after treatment was detected by high-performance liquid chromatography. ResultsThe L/M ratio was 0. 039 ± 0. 025 in routine treatment group and 0.072 ± 0.019 in routine treatment plus EN group (P =0.069). After 2 weeks of treatment, the L/M ratio of routine treatment plus EN group (0.038 ± 0.012 ) was significantly lower than the pretreatment level (P =0.043 ), while the L/M ratio of routine treatment group between before and after treatment had no significant difference (0.039 ± 0.025 vs. 0.032 ± 0.022, P =0.730). ConclusionEN can effectively improve the intestinal permeability in AUC patients.