Clinical features and surgical treatments for acute inflammatory bowel disease accompanied by genetic immunodeficiency

Objective To analyze the timing of surgical intervention and the choice of surgical options during acute episodes of inflammatory bowel disease (IBD) with immunodeficiency due to genetic abnormality, to summarize the etiologies and the therapies of genetic immunodeficiency and to provide clinical rationales for comprehensive treatments of these diseases. Methods A retrospective review was conducted for the clinical data of children with severe IBD undergoing emergency operations from January 2015 to June 2017. The etiologies, genetic backgrounds, clinical manifestations, surgical indications, surgical approaches, intestinal involvements, postoperative comprehensive treatments and outcomes were analyzed. There were 4 boys and 5 girls with a median age of onset of 17 (4-730) days. All of them had immunodeficiency disease caused by definite genetic abnormalities, including IL-10 receptor deficiency (n=4), X-linked agammaglobulinemia caused by IL10RA (n=1) and BTK gene mutation (n=1) respectively. There was one case of immunoglobulin deficiency syndrome, leukocyte adhesion deficiency syndrome, chronic granuloma and mutations of SH2D1A, ITGB2 and CYBB respectively. Chronic or recurrent diarrhea and fever were most common symptoms (8/9), recurrent or complicated anal fistula (6/9), intractable oral ulcer (3/9) and surface or abdominal abscess (2/9) were common concomitant symptoms. Major surgical indications included intestinal obstruction (n=6), refractory intestinal infection (n=2) and pneumoperitoneum (n=1). According to the findings of intraoperative exploration, the lesions were distributed in different locations from upper jejunum to rectum. Primary enterostomy was performed. Results There were wound infection (n=3) and dehiscence (n=1). One case was re-operated for adhesive intestinal obstruction. After infection control, 6 children underwent subsequent cord blood stem cell transplantation. Five cases recovered well while another one died from infection due to chimera failure. Two cases received supplement immunoglobulin regularly. Among 7 patients with immune function recovery, 5 patients underwent Pena procedure, anal fistulectomy and stoma closure in Ⅱ/Ⅲ stage with regular outpatient follow-ups while another 2 patients waited for stoma closure after an adequate control of intestinal inflammation. Conclusions Immunodeficiency caused by genetic abnormality is associated with an early onset of inflammatory bowel disease, severe illness and a poor therapeutic efficacy. Early surgical intervention should be performed for diverting affected intestine for infection control. Wound infection and dehiscence are two common operative complications. Satisfactory therapeutic efficacy may be achieved through comprehensive treatments. Key words: Enteritis; Enterostomy; Immunodeficiency