ABSTRACT
OBJECTIVE@#To explore the genetic basis of a child with Very early onset inflammatory bowel disease (VEOIBD).@*METHODS@#A female child who had presented at the Children's Hospital of Fudan University on May 23, 2018 due to occurrence of diarrhea and fever 6 days after birth was selected as the study subject. Clinical data of the child was collected. Family-based whole-exome sequencing (WES) was carried out. Candidate variant was verified by Sanger sequencing and PCR of the patient and her parents.@*RESULTS@#The child had developed the symptoms 6 days after birth, with main manifestations including diarrhea, fever, failure to thrive, rectovestibular fistula and hypothyroidism. An enterostomy was performed at the age of 3.5 months due to severe intestinal adhesion and obstruction. Based on her clinical manifestations, colonoscopic finding, and results of biopsies, she was diagnosed with VEOIBD in conjunct with congenital hypothyroidism. Replacement treatment of levothyroxine was given since one month of age. Family-based WES revealed that the child has harbored compound heterozygous variants of the DUOX2 gene, namely c.2654G>T (p.R885L) and c.505C>T (p.R169W), in addition with a heterozygous c.301C>T (p.R101W) variant of the IL10RA gene. Re-analysis of the WES data revealed that the patient also had a 333 bp deletion spanning exon 1 of the IL10RA gene (Chr11: 117857034_117857366).@*CONCLUSION@#For patients with VEOIBD, genetic testing is recommended. Presence of additional DUOX2 gene variants might have exacerbated the clinical symptoms in this patient. Above finding has facilitated genetic counseling and prenatal diagnosis for this family, and raised clinicians' awareness of this rare disease.
Subject(s)
Female , Humans , Infant , Pregnancy , Diarrhea , Dual Oxidases/genetics , Exons , Failure to Thrive , Inflammatory Bowel Diseases/geneticsABSTRACT
Objective To evaluate the clinical value of Bristol stool form scale(BSFS) for bowel preparation in pediatric patients. Methods Data of 202 pediatric patients undergoing colonoscopy were collected from May 2016 to December 2016 at Children's Hospital of Fudan University. All patients received polyethylene glycol ( PEG)-4000 with clear fluid diet for bowel preparation. BSFS was used to record the stool form, and Boston bowel preparation scale ( BBPS) was used to evaluate the quality of bowel cleansing.Differences in BBPS score between the enema group with BSFS 6 and the no enema group with BSFS 7 were studied. Based on the data types, t ( or t') test and chi-square test were used to analyze the influencing factors for colon preparation respectively. Those factors of statistical significance were studied with multivariate logistic regression analysis. Results The mean defecation time of pediatric patients during bowel preparation was 14. 4±6. 8. One hundred and sixty-five (81. 7％) patients were assessed as 7 points in BSFS, 37 ( 18. 3％) were 6 points in BSFS with supplemented enema, and 154( 76. 2％) patients achieved adequate bowel preparation. No significant differences were observed between the no enema group and enema group in the BBPS scores [75. 2％(124/165) VS 81. 1％(30/37), χ2=0. 587, P=0. 526]. Significant factors for inadequate colon preparation were constipation history (χ2=32. 588, P=0. 000 ) , total time of defecation(t=3. 432,P=0. 001) and total time of BSFS 7 (t'=2. 877,P=0. 005). Multivariate logistic regression analysis showed constipation history ( P = 0. 000, OR = 12. 620, 95％CI:4. 850-32. 800 ) was independent risk factor for inadequate colon preparation. Conclusion Patients of BSFS 6 points could receive warm saline enema as a remedy. Patients with total time of defecation less than 15 and total time of BSFS ( 7 points) less than 8 are liable for the possibility of inadequate bowel preparation. It is also suggested that for patients with constipation history, the time of bowel preparation should be prolonged for microscopic visual field clarity.