ABSTRACT
Las anomalías colorrectales constituyen un grupo de patologías muy variadas. el objetivo de este artículo es repasar su diagnóstico y manejo inicial hasta llegar al tratamiento quirúrgico
Colorrectal diseases are very different entities. The aim of this paper is reviewing the diagnosis and initial management of them to reach the appropriate surgical treatment
Subject(s)
Humans , Child , Adolescent , Rectum/abnormalities , Colon/abnormalities , Hirschsprung Disease/diagnosis , Hirschsprung Disease/therapy , Enterocolitis, Necrotizing/congenital , Enterocolitis, Necrotizing/diagnosis , Enterocolitis, Necrotizing/therapy , Crohn Disease/congenital , Crohn Disease/diagnosis , Crohn Disease/therapySubject(s)
Crohn Disease/congenital , Crohn Disease/complications , Gastrointestinal Hemorrhage/etiology , Genetic Diseases, Inborn/complications , Liver Cirrhosis/complications , Adult , Gastrointestinal Hemorrhage/surgery , Humans , Male , Portasystemic Shunt, Surgical , Varicose Veins/complications , Varicose Veins/congenital , Varicose Veins/pathologyABSTRACT
No disponible
Subject(s)
Female , Humans , Crohn Disease/congenital , Crohn Disease/metabolism , Lupus Erythematosus, Systemic/blood , Lupus Erythematosus, Systemic/pathology , Lupus Nephritis/physiopathology , Colitis, Ischemic/complications , Ulcer/metabolism , Crohn Disease/complications , Crohn Disease/pathology , Lupus Erythematosus, Systemic/complications , Lupus Erythematosus, Systemic/diagnosis , Lupus Nephritis/metabolism , Colitis, Ischemic/pathology , Ulcer/geneticsABSTRACT
Neonatal-onset inflammatory bowel disease (IBD) accounts for only 0.25% of pediatric IBD cases. The molecular pathogenesis of IBD remains unclear. Recently, rare Mendelian mutations have been identified in children with very early-onset Crohn's disease and ulcerative colitis. In this study, we report compound heterozygous mutations in the interleukin-10 receptor A (IL-10RA) gene in children with severe neonatal-onset IBD. Patient 1 had chronic diarrhea within the first month of life and had perianal fistulae. She was diagnosed with 'intractable ulcerating enterocolitis in infancy' and underwent subtotal colectomy at the age of 24 months because of poor response to immunosuppressant therapy. Compound heterozygous mutations, c.[301C>T];[350G>A](p.[R101W];[R117H]), were discovered in IL-10RA for this patient. Patient 2 presented symptoms within the first month of life and was diagnosed with Crohn's disease. Severe colitis and perianal and enteroenteric fistulae occurred repeatedly, and he underwent surgical management involving colectomy, colostomy, and ileostomy. We identified mutations in IL-10RA, c.[272A>G];[784C>T] (p.[Y91C];[R262C]). Patient 3 had chronic diarrhea and a rectovaginal fistula at 3 days of life and was diagnosed with Crohn's disease. She underwent fistulectomy and ileostomy, but experienced frequent relapses. Mutations, c.[272A>G];[301C>T] (p.[Y91C];[R101W]), were found in IL-10RA. This report confirms the genetic defect of IL-10RA in neonatal-onset IBD including 'intractable ulcerating enterocolitis in infancy'.
Subject(s)
Colitis, Ulcerative/genetics , Crohn Disease/genetics , Interleukin-10 Receptor alpha Subunit/genetics , Mutation , Colitis, Ulcerative/congenital , Colitis, Ulcerative/diagnosis , Colonoscopy , Crohn Disease/congenital , Crohn Disease/diagnosis , Female , Humans , Infant, Newborn , Magnetic Resonance Imaging , MaleABSTRACT
Crohn's disease in infants is infrequent. We describe here the case of a baby girl born at the 33rd week of pregnancy, that underwent surgery at the age of 55 days for intestinal occlusion. This was found to be due to stenosis of the right colonic flexure associated with cecum, appendix and terminal ileum. Microscopic examination showed features consistent with Crohn's disease. Eleven years after surgery, followed by cortisone therapy, the patient shows normal growth and is asymptomatic.
