ABSTRACT
Chromosome 15q duplication syndrome (Dup15q syndrome) is a neurodevelopmental disorder involving copy number gains of the maternal chromosome 15q11.2-q13 region, characterized by intellectual disability, developmental delay, autism spectrum disorder (ASD), and epilepsy. Gastrointestinal (GI) problems in Dup15q syndrome have been reported only rarely, mostly focused on neonatal feeding difficulties. A retrospective review of the medical records of 46 patients with Dup15q syndrome was conducted to assess GI issues and their treatments in this population. GI symptoms were present in 76.7% of subjects with an isodicentric duplication and 87.5% with an interstitial duplication. There was no clear association between GI issues and ASD, with symptoms occurring in 78.9% of all subjects and 78.2% of ASD subjects. The most commonly reported symptoms were gastroesophageal reflux (56.7%) and constipation (60%), with 30% of subjects reporting both. The most common treatments were polyethylene glycol for constipation and proton pump inhibitors for reflux. Behaviors such as irritability and aggressiveness improved with treatment of GI symptoms in several subjects. The results indicate that GI symptoms are common in Dup15q syndrome and may have an atypical presentation. Diagnosis may be difficult, especially in individuals who are nonverbal or minimally verbal, so increased awareness is critical for early diagnosis and treatment.
Subject(s)
Gastrointestinal Diseases/diagnosis , Gastrointestinal Diseases/genetics , Trisomy/genetics , Adolescent , Bisacodyl/pharmacology , Child , Child, Preschool , Chromosome Duplication , Chromosomes, Human, Pair 15/genetics , Constipation/drug therapy , Enema , Female , Gastrointestinal Diseases/drug therapy , Humans , Infant , Male , Polyethylene Glycols/pharmacology , Retrospective Studies , Senna Extract/pharmacology , Young AdultSubject(s)
Adenomatous Polyps/pathology , Colon/pathology , Ileal Diseases/diagnostic imaging , Ileum/pathology , Intussusception/diagnostic imaging , Abdominal Pain/etiology , Acute Disease , Adenomatous Polyps/complications , Adolescent , Anemia/etiology , Appendicitis/diagnosis , Appendicitis/etiology , Diagnosis, Differential , Diarrhea/etiology , Gastrointestinal Hemorrhage/etiology , Humans , Ileal Diseases/etiology , Intussusception/etiology , Male , Obesity/complications , Radiography, Abdominal , Tomography, X-Ray ComputedSubject(s)
Diarrhea/etiology , Child , Chronic Disease , Cystic Fibrosis/complications , Cystic Fibrosis/diagnosis , Cystic Fibrosis/therapy , Diagnosis, Differential , Diarrhea/physiopathology , Diarrhea/therapy , Factitious Disorders/complications , Factitious Disorders/diagnosis , Factitious Disorders/therapy , Failure to Thrive/etiology , Feces/microbiology , Food Hypersensitivity/diagnosis , Food Hypersensitivity/etiology , Food Hypersensitivity/therapy , Gastrointestinal Neoplasms/complications , Gastrointestinal Neoplasms/diagnosis , Gastrointestinal Neoplasms/therapy , Humans , Intestinal Diseases/complications , Intestinal Diseases/diagnosis , Intestinal Diseases/therapy , Medical History Taking , Neuroendocrine Tumors/complications , Neuroendocrine Tumors/diagnosis , Neuroendocrine Tumors/therapy , Physical Examination , Polyendocrinopathies, Autoimmune/complications , Polyendocrinopathies, Autoimmune/diagnosis , Polyendocrinopathies, Autoimmune/therapyABSTRACT
BACKGROUND: Pouchitis occurs in up to 50% of patients with ulcerative colitis (UC) undergoing ileal pouch anal anastomosis (IPAA). Pouchitis rarely occurs in patients with familial adenomatous polyposis (FAP) who undergo IPAA. Our aim was to compare mucosal and luminal flora in patients with UC-associated pouchitis (UCP), healthy UC pouches (HUC), and healthy FAP pouches (FAP). METHODS: Nineteen patients were enrolled in this cross-sectional study (nine UCP, three HUC, seven FAP). Patients with active pouchitis were identified using the Pouchitis Disease Activity Index (PDAI). Ileal pouch mucosal biopsies and fecal samples were analyzed with a 16S rDNA-based terminal restriction fragment length polymorphism (TRFLP) approach. Pooled fecal DNA from four UCP and four FAP pouches were sequenced for further speciation. RESULTS: TRFLP data revealed statistically significant differences in the mucosal and fecal microbiota between each group of patients. UCP samples exhibited significantly more TRFLP peaks matching Clostridium and Eubacterium genera compared to HUC and FAP pouches and fewer peaks matching Lactobacillus and Streptococcus genera compared to FAP. DNA Sanger sequencing of a subset of luminal samples revealed UCP having more identifiable sequences of Firmicutes (51.2% versus 21.2%) and Verrucomicrobia (20.2% versus 3.2%), and fewer Bacteroidetes (17.9% versus 60.5%) and Proteobacteria (9.8% versus 14.7%) compared to FAP. CONCLUSIONS: The pouch microbial environment appears to be distinctly different in the settings of UC pouchitis, healthy UC, and FAP. These findings suggest that a dysbiosis may exist in pouchitis which may be central to understanding the disease.
