[Clinical characteristics and prognosis of children with perianal fistulizing Crohn's disease]. / å„¿ç«¥è‚›å‘¨ç˜˜ç®¡åž‹å ‹ç½—æ©ç— çš„ä¸´åºŠç‰¹å¾åŠé¢„åŽ.

OBJECTIVES: To investigate the clinical characteristics, treatment, and prognosis of children with perianal fistulizing Crohn's disease (pfCD). METHODS: A retrospective analysis was conducted on the children, aged 6-17 years, who were diagnosed with Crohn's disease (CD) from April 2015 to April 2023. According to the presence or absence of perianal fistulizing lesions, they were divided into two groups: pfCD (n=60) and non-pfCD (n=82). The two groups were compared in terms of clinical characteristics, treatment, and prognosis. RESULTS: The incidence of pfCD was 42.3% (60/142). The proportion of males in the pfCD group was higher than that in the non-pfCD group. Compared with the non-pfCD group, the pfCD group had a significantly higher proportion of children with involvement of the colon and small intestine or those with upper gastrointestinal lesions (P<0.05). Compared with the non-pfCD group, the pfCD group had a significantly higher rate of use of infliximab during both induction and maintenance treatment (P<0.05). In the pfCD group, the children with complex anal fistula accounted for 62% (37/60), among whom the children receiving non-cutting suspended line drainage accounted for 62% (23/37), which was significantly higher than the proportion among the children with simple anal fistula patients (4%, 1/23) (P<0.05). There were no significant differences between the two groups in mucosal healing rate and clinical remission rate at week 54 of treatment (P>0.05). The pfCD group achieved a fistula healing rate of 57% (34/60) at week 54, and the children with simple anal fistula had a significantly higher rate than those with complex anal fistula (P<0.05). CONCLUSIONS: There is a high incidence rate of pfCD in children with CD, and among the children with pfCD, there is a high proportion of children with the use of biological agents. There is a high proportion of children receiving non-cutting suspended line drainage among the children with complex anal fistula. The occurrence of pfCD should be closely monitored during the follow-up in children with CD.

Consensus for criteria of running a pediatric inflammatory bowel disease center using a modified Delphi approach.

BACKGROUND: Good quality of care for inflammatory bowel disease (IBD) depends on high-standard management and facility in the IBD center. Yet, there are no clear measures or criteria for evaluating pediatric IBD (PIBD) center in China. The aim of this study was to develop a comprehensive set of quality indicators (QIs) for evaluating PIBD center in China. METHODS: A modified Delphi consensus-based approach was used to identify a set of QIs of structure, process, and outcomes for defining the criteria. The process included an exhaustive search using complementary approaches to identify potential QIs, and two web-based voting rounds to select the QIs defining the criteria for PIBD center. RESULTS: A total of 101 QIs (35 structures, 48 processes and 18 outcomes) were included in this consensus. Structure QIs focused on the composition of multidisciplinary team, facilities and services that PIBD center should provide. Process QIs highlight core requirements in diagnosing, evaluating, treating PIBD, and disease follow-up. Outcome QIs mainly included criteria evaluating effectiveness of various interventions in PIBD centers. CONCLUSION: The present Delphi consensus developed a set of main QIs that may be useful for managing a PIBD center. Video Abstract.

The impact of exclusive enteral nutrition on the gut microbiome and bile acid metabolism in pediatric Crohn's disease.

BACKGROUND: Gut dysbiosis and associated bile acid (BA) metabolism play an important role in the pathogenesis of Crohn's disease (CD). We investigated the impacts of the exclusive enteral nutrition treatment (EEN) on the gut microbiome (GM) and BAs metabolism for patients with CD. METHODS: Targeted metabolomics analysis and metagenomics analysis were performed in feces to investigate the BA and GM changes of patients before and after 2-months EEN therapy. The Pediatric Crohn's Disease Activity Index (PCDAI) and fecal calprotectin were used to evaluate the severity and mucosal inflammation of CD. RESULTS: A total of 27 newly diagnosed pediatric patients with CD and 27 healthy controls were recruited in this study. Both GM structure and the secondary BA metabolism were significantly impaired in patients, which could return towards normal levels after EEN treatment. The most abundant taxa Firmicutes and 11 BAs were found closely associated with the PCDAI score and fecal calprotectin. Meanwhile, the close interactions between Firmicute bacteria and BAs might contribute to the remission of CD after EEN treatment. The qPCR data further confirmed that the relative expressions of Firmicutes phylum, and genus Flavonifractor and Clostridium V were improved after EEN treatment. CONCLUSIONS: Firmicutes bacteria and the balance of primary and secondary BA compositions in the gut were closely associated with the health status of CD disease indicated by the PCDAI score and fecal calprotectin. Understanding the recovery process of gut microbiome and BA metabolism will help us to explore the potential mechanisms of EEN therapy.

Outcomes of Pediatric Patients with Crohn's Disease Received Infliximab or Exclusive Enteral Nutrition during Induction Remission.

Background: Both exclusive enteral nutrition (EEN) and infliximab (IFX) are recommended as induction therapy for pediatric Crohn's disease (CD). Our aim was to compare long-term disease outcomes of patients initially received with either IFX or EEN. Methods: Medical records of newly diagnosed, therapy naïve pediatric patients with CD received with IFX or EEN as induction therapy were retrospectively enrolled. Pediatric Crohn's disease activity index (PCDAI), Crohn's disease endoscopic index of severity (CDEIS), and other clinical data were compared pre- and postinduction therapy in two groups. The sustained remission rates and time coupled with body mass index (BMI) and height for age (HFA) changes were evaluated during more than 2-year long-term follow-up. Results: We collected data from 58 children with CD used IFX (23) or EEN (35) as induction remission therapy from January 2015 through June 2021 in our single-center. The median follow-up after starting IFX or EEN was 12.2 months (6.5-18.0months) and 18.9 months (7.1-30.7months), respectively. The proportion clinical and endoscopic remission in EEN (88.57% and 68.75%) was similar with that of IFX (73.91% and 80.77%) after induction therapy. No significant differences were also observed in BMI and HFA recovery between two groups. Among those who achieved clinical or endoscopic remission or endoscopic response, the sustained remission rates and time did not reveal any significant differences for those 10 patients who used 6-mercaptopurine/methotrexate (6-MP/MTX) or 14 patients who used IFX as maintenance treatment during longitudinal follow-up. Conclusions: Our study suggested that EEN treatment is similar with IFX therapy in short-term outcomes, and EEN+6-MP/MTX treatment is comparable with IFX+IFX therapy in long-term outcomes.

A Novel Variant of X-Linked Moesin Gene in a Boy With Inflammatory Bowel Disease Like Disease-A Case Report.

Variants in the MSN gene were recently reported as the cause of a primary immunodeficiency disease called X-linked moesin-associated immunodeficiency (X-MAID). Hitherto, only 10 patients were reported worldwide. Here, we report a boy who presented with recurrent high fever, oral ulcers, abdominal pain, and hematochezia for over 2 weeks. His serum inflammatory markers were elevated, and colonoscopy showed multiple colon ulcers and terminal ileum ulcers which resemble colitis caused by inflammatory bowel disease. A novel heterozygous variant c.934G>T(p.Glu312Ter) in the MSN gene was identified using whole exome sequencing (WES) and trio analysis. Intestinal ulcers were almost healed after inducing therapy with steroids and maintenance treatment of anti-TNFα therapy. We summarized the genotype and phenotype of reported X-MAID patients and presented the patient's unique phenotype in this study. This study also expanded the spectrum of MSN mutation-caused immunodeficiency.

[Effectiveness of induction therapy with exclusive enteral nutrition in pediatric Crohn's disease]. / å ¨è‚ å† è¥å »å¯¹å„¿ç«¥å ‹ç½—æ©ç— è¯±å¯¼ç¼“è§£ç–—æ•ˆç ”ç©¶.

OBJECTIVES: To evaluate the effectiveness of induction therapy with exclusive enteral nutrition (EEN) in pediatric Crohn's disease (CD). METHODS: A retrospective analysis was performed on the medical data of 62 children with CD who received EEN in Children's Hospital, Zhejiang University School of Medicine, from March 2013 to August 2021. The medical data included general information and height, weight, Pediatric Crohn's Disease Activity Index (PCDAI), Crohn's Disease Endoscopic Index of Severity, C-reactive protein, erythrocyte sedimentation rate, and serum albumin level before treatment and after 8 weeks of treatment. The changes in the above indicators were compared before and after treatment. RESULTS: Among the 62 children with CD, there were 39 boys (63%) and 23 girls (37%), with a mean age of (11.9±3.0) years at diagnosis. Among the 55 children who completed EEN treatment for at least 8 weeks, 48 (87%) achieved clinical remission at week 8. PCDAI at week 8 was significantly lower than that before treatment (P<0.001). Except for 17 children with involvement of the small intestine alone and 3 children with involvement of the colon who did not receive colonoscopy reexamination, the remaining 35 children with involvement of the colon received colonoscopy reexamination after the 8-week EEN treatment. Of the 35 children, 29 (83%) achieved mucosal healing. As for the 48 children who achieved clinical remission at week 8, there were significant improvements in height-for-age Z-score and body mass index-for-age Z-score at week 8 (P<0.01). As for the 7 children who did not achieve clinical remission at week 8, there were no significant changes in height-for-age Z-score and body mass index-for-age Z-score at week 8 (P>0.05). CONCLUSIONS: The 8-week EEN treatment has a good effect on clinical remission and mucosal healing in children with CD. For the children with CD achieving clinical remission, EEN can improve their height and body mass index.

Poor Concordance Between Clinical Activity and Endoscopic Severity in Pediatric Crohn's Disease: Before and After Induction Therapy.

OBJECTIVES AND STUDY: Endoscopic assessments of disease activity are important to diagnose and evaluate treatment responses in patients with Crohn's disease (CD). However, the invasiveness of endoscopy limits the application of this technique in routine examination. Thus, interest has been increasing in identifying noninvasive surrogate markers to predict endoscopic CD activity. METHODS: We retrospectively analyzed pediatric patients with new-onset CD from January 2013 to December 2018 at Zhejiang University Affiliated Children's Hospital. The disease severity was scored according to the Crohn's Disease Endoscopic Index of Severity (CDEIS). Routine blood tests were determined individually. Clinical activity was assessed based on the Pediatric Crohn's Disease Activity Index (PCDAI). RESULTS: A total of 91 patients with CD had undergone one or more ileocolonoscopies (n = 146), the mean CDEIS for all the pediatric patients with CD was 7.0 (95% CI 5.7-8.2), and the mean PCDAI was 20.9 (95% CI 18.3-23.5). Pearson's linear analysis of the CDEIS and PCDAI in pediatric patients with CD showed a moderate correlation (r = 0.508, P < 0.001). Weak correlations were found between the PCDAI and CDEIS at the first diagnosis (r = 0.408, P < 0.001) and after completing induction therapy (r = 0.286, P < 0.05). Routine blood tests also did not correlate well with the CDEIS. CONCLUSIONS: This study identified weak correlations between the PCDAI and CDEIS in assessing pediatric patients with CD severity both at first diagnosis and after induction therapy. A comprehensive assessment of PCDAI, CDEIS and multiple laboratory factors should be performed at diagnosis and during the follow-up of patients with CD.

Nasogastric or nasojejunal feeding in pediatric acute pancreatitis: a randomized controlled trial.

BACKGROUND: The aim of this study was to compare nasogastric (NG) feeding with nasojejunal (NJ) feeding when treating pediatric patients with acute pancreatitis (AP). METHODS: We performed a single-center, prospective, randomized, active-controlled trial involving 77 pediatric patients with AP from April 2014 to December 2017. The patients were randomized into two groups: the NG tube feeding group (34 patients) and the NJ tube feeding group (33 patients). The primary outcome measures included the enteral nutrition intolerance, the length of tube feeding time, the recurrent pain of pancreatitis and complications. RESULTS: A total of 62 patients with AP (31 patients for each group) came into the final analysis. No differences were found in baseline characteristics, pediatric AP score and computed tomography severity score between the two groups. Three (9.7%) patients in the NG group and one (3.2%) patient in the NJ group developed intolerance (relative risk = 3.00, 95% confidence interval 0.33-27.29, P = 0.612). The tube feeding time and length of hospital stay of the NG group were significantly shorter than those of the NJ group (P = 0.016 and 0.027, respectively). No patient died in the trial. No significant differences were found in recurrent pain, complications, nutrition delivery efficacy, and side effects between the two groups. CONCLUSIONS: NG tube feeding appears to be effective and safe for acute pediatric pancreatitis compared with NJ tube feeding. In addition, high qualified, large sample sized, randomized controlled trials in pediatric population are needed.

Atypical late-onset severe gastritis in immune dysregulation, polyendocrinopathy, enteropathy, and X-linked (IPEX) syndrome: 2 case reports.

RATIONALE: The immune dysregulation, polyendocrinopathy, enteropathy, and X-linked (IPEX) syndrome is a rare disorder that most often manifests in the early stages of life. IPEX syndrome with a late onset, presenting with severe gastritis has rarely been reported. PATIENT CONCERNS: Two male adolescents presented with recurrent vomiting, severe malnutrition, and growth retardation due to severe gastritis. DIAGNOSES: Esophagogastroduodenoscopy of the 2 patients revealed rare presentations of severe gastritis with multiple ulcers and stenosis of the pylorus. Next-generation sequencing revealed 2 novel variants in gene FOXP3 in the patients who were diagnosed with the IPEX syndrome. INTERVENTIONS: Both patients were treated with a high calorie formular enteral nutritional therapy. In addition, the pylorus of patient 1 was enlarged by balloon dilation, while patient 2 was treated with mercaptopurine and low dose prednisone. OUTCOMES: Symptoms and nutritional status of the patients improved after treatment. LESSONS: Chronic severe gastritis with stenosis of the pylorus could be an atypical manifestation of the IPEX syndrome. The use of next-generation sequencing is highly suitable for the diagnosis of atypical IPEX syndromes.

Infliximab Therapy in Very Early Onset Crohn's Disease: Real-World Experience in China.

BACKGROUND: Data concerning of the effectiveness of infliximab in very early onset Crohn's disease patients are rare. AIM: To assess the effectiveness and safety issues of infliximab treatment for this rare cohort. METHODS: The pediatric Crohn's disease activity index, Crohn's disease endoscopic index score, height, and weight were retrospectively recorded at baseline, week 14, and week 54. The rates of clinical remission and mucosal healing and growth of patients were compared between patients younger and older than 6 years of age. Loss of response or non-response to infliximab and adverse events were assessed during the entire treatment period. RESULTS: Sixty-five patients were enrolled in the study. Sixty-four percent and 40.0% of very early onset Crohn's disease patients achieved clinical remission and mucosal healing after induction therapy. Adjusted for the covariances, very early disease onset had no association with primary non-response (p = 0.360) or mucosal healing (p = 0.361). Early disease onset was associated with discontinuation of infliximab due to adverse events (hazard ratio [HR] 7.15, 95% CI 1.73-29.51, p = 0.006). Patients < 6 years had lower body mass index for age z score improvement during the induction phase (p = 0.04). CONCLUSIONS: Very early onset Crohn's disease patients had similar non-response rates and mucosal healing rates as those who were 6 years or older during induction therapy. Greater discontinuation of infliximab due to adverse events was observed in very early onset Crohn's disease patients.

DGAT1 mutations leading to delayed chronic diarrhoea: a case report.

BACKGROUND: Early-onset chronic diarrhoea often indicates a congenital disorder. Mutation in diacylglycerol o-acyltransferase 1 (DGAT1) has recently been linked to early-onset chronic diarrhoea. To date, only a few cases of DGAT1 deficiency have been reported. Diarrhoea in those cases was severe and developed in the neonatal period or within 2 months after birth. CASE PRESENTATION: Here, we report a female patient with DGAT1 mutations with delayed-onset chronic diarrhoea. The patient had vomiting, hypoalbuminemia, hypertriglyceridemia, and failure to thrive at early infancy. Her intractable chronic diarrhoea occurred until she was 8 months of age. A compound heterozygous DGAT1 mutation was found in the patient, which was first found in the Chinese population. Her symptoms and nutrition status improved after nutritional therapy, including a fat restriction diet. CONCLUSIONS: This case expanded our knowledge of the clinical features of patients with DGAT1 mutations. Intractable diarrhoea with delayed onset could also be a congenital disorder.

Obscure gastrointestinal bleeding caused by congenital enteropathy in a Chinese young child-a case report.

BACKGROUND: SLCO2A1 was recently reported to cause nonspecific ulcers at small bowel, it was named as chronic enteropathy associated with SLCO2A1 (CEAS). It was rarely reported beyond the Japanese population. CASE PRESENTATION: A 4-year-5-month old girl presented with intractable anemia since 1-year-3-month. Her stool occult blood test was positive and the result of esophagogastroduodenoscopy and colonoscopy were normal. She was considered as obscure gastrointestinal bleeding. The magnetic resonance enterography and ultrasound of small intestinal revealed segmental thickening of small bowel. The capsule endoscopy detected ulcers, erosion and slightly stenosis near the site of junction of jejunum and ileum. She was considered chronic non-specific multiple ulcers of the small intestine and was advised to have whole exon sequencing. She was treated with exclusive enteral nutrition and iron supplement for two months. However, she was not responsive to this treatment, then she had three doses of infliximab. At the same time, the next-generation sequencing of this patient revealed two novel compound heterozygous mutations in SLCO2A1. She was diagnosed with CEAS and was treated with oral mercaptopurine. Her hemoglobin level was stable and the serum albumin level was slightly decreased during the follow up. CONCLUSION: CEAS may present as nonspecific small bowel ulcers, and misinterpret as small bowel Crohn's disease. Genetic tests may help with the precise diagnosis of small bowel ulcers.

Pediatric radiation enteritis with intestinal failure: A case report and literature review.

RATIONALE: Chronic radiation enteritis, a disease secondary to radiation exposure, has been widely reported in adults. However, few studies have described chronic radiation enteritis in children. Early diagnosis is essential, and nutrition management plays an important role in pediatric chronic radiation enteritis management. PATIENT CONCERNS: A Chinese 3-year-10-month-old boy was admitted with vomiting, weight loss (1-2 kg) after radiotherapy for a neuroblastoma. DIAGNOSES: The patient was diagnosed as neuroblastoma (primary site: left adrenal grand; site of metastasis: multiple bone metastasis, bone marrow invasion, intraperitoneal lymph node metastasis) in 2015. Five months after radiotherapy, he showed vomiting and weight loss with stricture in intestine and thickening intestinal wall in imaging finding. His daily intake was not sufficient and extra supplements were needed by intravenous infusion. He had a weight-for-age z score of -5.04, a weight-for-height z score of -6.19, a height-for-age z score of -2.22, and a body mass index-for-age z score of -5.87. The highest level of alanine aminotransferase was 1433 U/L. Those findings established a diagnosis of chronic radiation enteritis with intestinal failure, intestinal stenosis, severe malnutrition, and hepatic dysfunction. INTERVENTIONS: This patient was treated by parenteral nutrition with minimal enteral feeding. Other treatments were aiming at complications during hospitalization. OUTCOMES: The patient weaned off parenteral nutrition finally with nutrition status and quality of life improved. There were no signs of tumor recurrence during the 4-year follow-up. LESSONS: Pediatric radiation enteritis is rare. Our study highlights the characteristics of pediatric chronic radiation enteritis. Nutrition therapy is an important part of the whole therapy strategy in pediatric chronic radiation enteritis.

A case of severe malnutrition infant with neonatal onset intractable diarrhea.

BACKGROUND: Congenital tufting enteropathy (CTE) is a rare disease that manifests as intractable diarrhea during the neonatal period which is associated with mutations of the epithelial cell adhesion molecule (EpCAM) gene. CASE PRESENTATION: A male infant who presented with vomiting, diarrhea, abdominal distention, malnutrition and growth failure was admitted to our department when he was 2 months old. His parents were healthy and nonconsanguineous. Etiologic examinations of stool, inflammatory markers, blood gas and electrolytes levels, serum albumin level, serum immunoglobin levels were all normal. And there was no indication for metabolic diseases. Additionally, gastrointestinal contrast did not reveal abnormality of gastrointestinal. The patient was diagnosed with intestinal malabsorptive syndrome and severe malnutrition without definite cause. He was on supportive treatment and nutritional therapy for 13 months. However, he did not gain weight obviously. He was discharged at the age of 15 months and was fed with partial hydrolyzed formula and rice paste at home. Three months later he developed hypoglycemia and severe respiratory infection. Finally, he died due to sepsis and multiple organs failure. The next generation sequencing revealed one homozygous mutation of EpCAM gene and one complex heterozygous mutation of TTC7A gene. He was diagnosed CTE according to the genetic results and clinical manifestations. CONCLUSIONS: CTE is rarely reported in Asia. Patients present with congenital diarrhea, poor weight gain and growth failure are recommended to perform endoscopy examination with proper immunohistochemistry study as early as possible, and genetic testing is necessary when suspecting congenital diarrhea and enteropathy.

[Inflammatory bowel disease with growth hormone deficiency in adolescents: an analysis of 4 cases and literature review].

Inflammatory bowel disease (IBD) is a chronic recurrent non-specific inflammatory disease in the intestinal tract. About 10%-56% of children with Crohn's disease and about 10% of children with ulcerative colitis have growth retardation. This study reports four adolescents with IBD and growth hormone deficiency who were diagnosed with Crohn's disease. There were three boys and one girl, with an age of 11.0-13.9 years and a disease duration of 11-85 months at diagnosis. The four patients had the involvement of the small intestine only, the colon only, both the small intestine and the upper gastrointestinal tract, and both the small intestine and the colon respectively. The pediatric Crohn's disease activity index ranged from 27.5 to 45 points. All four patients had a height-for-age Z-score (HAZ) of <-2, and the growth hormone provocative test suggested growth hormone deficiency. Of all four patients, two received recombinant human growth hormone combined with infliximab, one received infliximab only, and one received recombinant human growth hormone combined with mercaptopurine. All four patients had an improvement in HAZ after treatment.

[Clinical features and prognosis of gastrointestinal injury due to foreign bodies in the upper gastrointestinal tract in children: a retrospective analysis of 217 cases].

OBJECTIVE: To study the clinical features and prognosis of gastrointestinal injury caused by foreign bodies in the upper gastrointestinal tract in children. METHODS: A retrospective analysis was performed for the clinical data of 217 children who were diagnosed with foreign bodies in the upper gastrointestinal tract complicated by gastrointestinal injury by gastroscopy from January 2011 to December 2016, including clinical features, gastroscopic findings, complications, and prognosis. RESULTS: Among the 217 children, 114 (52.5%) were aged 1-3 years. The most common foreign body was coin (99/217, 45.6%), followed by hard/sharp-edged food (45/217, 20.7%) and metal (35/217, 16.1%). The most common gastrointestinal mucosal injury was ulceration (43.8%), followed by erosion (33.2%). Compared with other foreign bodies, button cells were significantly more likely to cause esophageal perforation (P<0.01). The esophagus was the most commonly injured organ (207/217, 95.4%). Of all the 217 children, 24 (11.1%) experienced infection. The children with perforation caused by foreign bodies had a significantly higher incidence rate of infection than those with ulceration caused by foreign bodies (P=0.003). Of all the 217 children, 204 (94.0%) underwent successful endoscopic removal of foreign bodies. Among these children, 98 were hospitalized due to severe mucosal injury and were given anti-infective therapy, antacids, and supportive care including enteral nutrition through a nasogastric tube and/or parenteral nutrition. Of all the children, 10 left the hospital and were lost to follow-up, and all the other children were improved and discharged. CONCLUSIONS: Most cases of foreign bodies in the upper gastrointestinal tract occur at 1-3 years of age. Coin, hard/sharp-edged food, and metal are the most common foreign bodies. Button cells are more likely to cause esophageal perforation. The incidence rate of secondary infection increases with the increasing severity of gastrointestinal mucosal injury. Children undergoing endoscopic removal of foreign bodies and enteral nutrition through a nasogastric tube tend to have a good prognosis.

A case of Metaplastic atrophic gastritis in immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) syndrome.

BACKGROUND: Autoimmune metaplastic atrophic gastritis is a chronic progressive inflammatory condition. The clinical spectrum includes pernicious anemia, atrophic gastritis, antibodies to parietal cell antigens and intrinsic factor, achlorhydria, hypergastrinemia and carcinoma. It is rare in paediatric cohorts. CASE PRESENTATION: We present the case of a boy with metaplastic atrophic gastritis in whom immune dysregulation, polyendocrinopathy, enteropathy, X-linked(IPEX) syndrome was confirmed by FOXP3 gene mutation. The patient was referred to the hospital at the age of 3 years with recurrent emesis, diarrhoea and malnutrition. His elder brother died at 9 years of age from acute respiratory distress syndrome and renal tubular acidosis. The patient was allergic to cow milk formula and noodles. Oesophagegastroduodenoscopy revealed redness, erosion and edema throughout the stomach; whitish granules in the duodenal bulb; and edema in the second part of the duodenum. Biopsies showed extensive villous atrophy and goblet cell depletion in the duodenum. He was diagnosed with type-1 diabetes mellitus (T1DM) during the treatment of methylprednisolone. Serum antibodies against glutamic acid decarboxylase and pancreatic islets were detected. The patient's FOXP3 gene was sequenced; this identified that the patient was hemizygous for a pathogenic variant [NM_014009.3:c.748_750del (p.Lys250del)]. CONCLUSION: Metaplastic atrophic gastritis is rarely reported in patients with IPEX. Clinical gastroenterologists should be aware of IPEX syndrome when facing the complex syndromes of metaplastic atrophic gastritis and endocrinopathy.