Inflammatory disorders of the intestine Flashcards
A few hour old neonate presents with non-bilious vomiting. There was ulceration of the umbilical cord. Radiology shows double bubble sign.
Duodena atresia, proximal to the ampulla of Vater
Genetic mutation associated with Hirschsprung disease
Loss of function of RET
Also EDNRB or EDN3
Syndrome associated with Hirschsprung disease in 10% of cases
Trisomy 21 –> Down syndrome
Immunohistochemical stain for this of ganglion cells used for confirmation of Hirschsprung disease
Acetyl-cholinesterase
Neonate has been unable to pass meconium. There is visible peristalsis, abdominal distention, and bilious vomiting.
Hirschsprung disease
Complications of Hirschsprung disease
Enterocolitis
Fluid and electrolyte disturbances
Perforation
Peritonitis
Common causes of malabsorption syndrome in US
Pancreatic insufficiency
Celiac disease
Crohn disease
Hallmark of malabsorption
Steatorrhea
Diarrhea type composed of isotonic stool that persists during fasting
Secretory diarrhea
Diarrhea type related to lactase deficiency that is improved by fasting
Osmotic diarrhea
Diarrhea type associated with steatorrhea that is relieved by fasting
Malabsorptive diarrhea
Diarrhea type associated with inflammatory disease, characterized by purulent, bloody stools that persists during fasting
Exudative diarrhea
Genetic defect associated with celiac disease
Class II HLA-DQ2 or HLA-DQ8 allele
Conditions associated with celiac disease
DM type I
Thyroiditis
Sjogren syndrome
IgA nephropathy
Part of gluten with most disease producing components of celiac
Gliadin
Sensitive marker of celiac disease, even in the absence of epithelial damage and villous atrophy
Intraepithelial lymphocytosis of CD8+ T cells
Microscopy findings in celiac disease
Crypt hyperplasia
Villous atrophy
Extraintestinal complaints associated with celiac disease
Arthritis
Aphthous stomatitis
Iron deficiency anemia
Delayed puberty
Short stature
Dermatitis herpetiformis
Silent celiac disease
Positive serology and villous atrophy without symptoms
Latent celiac disease
Positive serology without villous atrophy
Markers used for diagnosis of adult celiac disease
IgA anti-tissue transglutaminase
IgA anti-endomysial antibodies
IgG anti-tissue transglutaminase antibodies with IgA deficiency
Malignancies associated with celiac disease
Enteropathy associated T cell lymphoma
Small intestine adenocarcinoma
Intestinal syndrome associated with high oral vaccine failure rate
Environmental enteric dysfunction
Causal organism of Whipple disease
Trpheryma whipplei
Disease caused by accumulation of bacterial laden macrophages within the small intestinal lamina propria and mesenteric lymph nodes that causes lymphatic obstruction, leading to malabsorptive diarrhea.
Whipple disease
Shaggy mucosal surface of intestinal epithelium with white-yellow mucosal plaques
Whipple disease