Infliximab treatment of glycogenosis Ib with Crohn's-like enterocolitis: A case report.

BACKGROUND: Glycogen storage disease type Ib (GSD-Ib) is a glycogen metabolism disorder that leads to the manifestations of inflammatory bowel disease (IBD), especially Crohn's disease (CD)-like colitis. Although biological agents are effective for treating CD, their application in the treatment of GSD-Ib with CD-like colitis has been rarely reported. CASE SUMMARY: A 13-year-old Han male was diagnosed with GSD-Ib with CD. The patient was treated with granulocyte colony-stimulating factor. When he had symptoms of CD-like colitis, he was continuously pumped with enteral nutrition and administered oral mesalazine for 2 wk; however, the symptoms did not improve significantly. Hence, infliximab (IFX) was administered. Hitherto, the patient has been followed up for 1 year, and no clinical manifestations have been observed. After 6 mo of treatment (fifth IFX treatment), the disease activity index and all inflammatory indexes decreased, and a review of the colonoscopy data showed that the ulcers appeared smooth. CONCLUSION: In this study, the patient was successfully treated with IFX. In cases of GSD-Ib, IBD should be highly considered.

[Clinical characteristics and gene variants of patients with infantile intrahepatic cholestasis].

OBJECTIVE: To explore the clinical characteristics and genetic findings of patients with infantile intrahepatic cholestasis. METHODS: The clinical data were collected in children who were admitted to the Department of Gastroenterology in Children's Hospital, Capital Institute of Pediatrics from June 2017 to June 2019 and were suspected of inherited metabolic diseases. Next generation sequencing based on target gene panel was used for gene analysis in these children. Sanger sequencing technology was used to verify the genes of the members in this family. RESULTS: Forty patients were enrolled. Pathogenic gene variants were identified in 13 patients (32%), including SLC25A13 gene variation in 3 patients who were diagnosed with citrin deficiency, JAG1 gene variation in 3 patients who were diagnosed with Alagille syndrome, ABCB11 gene variation in 3 patients who were diagnosed with progressive familial intrahepatic cholestasis type 2, HSD3B7 gene variation in 1 patient who was diagnosed with congenital bile acid synthesis defect type 1, AKR1D1 gene variation in 1 patient who was diagnosed with congenital bile acid synthesis defect type 1, NPC1 gene variation in 1 patient who was diagnosed with Niemann-Pick disease, and CFTR gene variation in 1 patient who was diagnosed with cystic fibrosis. CONCLUSIONS: The etiology of infantile intrahepatic cholestasis is complex. Next generation sequencing is helpful in the diagnosis of infantile intrahepatic cholestasis.

Effect of enteral nutrition on dextran sulfate sodium-induced colitis in rats.

OBJECTIVE: To study the effect of enteral nutrition (EN) on dextran sulfate sodium (DSS)-induced colitis in rats. METHODS: Eighty-four Sprague-Dawley rats were divided into 7 groups (12 rats in each group). The blank control group was given ordinary laboratory feed and drinking water. The experimental groups received 5% DSS as drinking water for 7 days. Of the experimental groups, the model control group received ordinary laboratory feed, protein based enteral nutrition (PEN) was fed in the PEN group, while other groups received ordinary laboratory feed plus 5-aminosalicylic acid (5-ASA), methyl-prednisolone, Lactobacillus or glutamine, respectively. On the 8th day, all the rats were sacrificed. Inflammatory scores were assessed from colonic mucosa. Blood culture from inferior vena cava, fecal culture and secretary immunoglobulin-A (S-IgA) levels from colonic contents were determined. RESULTS: Colon inflammatory scores of Lactobacillus, PEN, glutamine and drug-treated groups were lower than that of the model control group (P < 0.01). The ratios of bacteria translocation in the EN (PEN, Lactobacillus and glutamine) groups were lower than that in the model control group (P < 0.0083). Fecal Lactobacilli in the Lactobacillus and glutamine groups were higher than that in the model control group (P < 0.05). S-IgA levels in colonic contents of the PEN and 5-ASA group were lower than that in the model control group (P < 0.05). CONCLUSIONS: EN is an effective therapy for treating DDS-induced colitis. EN could alleviate damage, promote the repair of colonic epithelial cells and inhibit bacterial translocation. Lactobacillus and glutamine could also increase the Lactobacilli in colon.