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GI II > Inflammatory disorders of the intestine > Flashcards

Inflammatory disorders of the intestine Flashcards

1
Q

A few hour old neonate presents with non-bilious vomiting. There was ulceration of the umbilical cord. Radiology shows double bubble sign.

A

Duodena atresia, proximal to the ampulla of Vater

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2
Q

Genetic mutation associated with Hirschsprung disease

A

Loss of function of RET

Also EDNRB or EDN3

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3
Q

Syndrome associated with Hirschsprung disease in 10% of cases

A

Trisomy 21 –> Down syndrome

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4
Q

Immunohistochemical stain for this of ganglion cells used for confirmation of Hirschsprung disease

A

Acetyl-cholinesterase

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5
Q

Neonate has been unable to pass meconium. There is visible peristalsis, abdominal distention, and bilious vomiting.

A

Hirschsprung disease

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6
Q

Complications of Hirschsprung disease

A

Enterocolitis
Fluid and electrolyte disturbances
Perforation
Peritonitis

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7
Q

Common causes of malabsorption syndrome in US

A

Pancreatic insufficiency
Celiac disease
Crohn disease

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8
Q

Hallmark of malabsorption

A

Steatorrhea

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9
Q

Diarrhea type composed of isotonic stool that persists during fasting

A

Secretory diarrhea

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10
Q

Diarrhea type related to lactase deficiency that is improved by fasting

A

Osmotic diarrhea

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11
Q

Diarrhea type associated with steatorrhea that is relieved by fasting

A

Malabsorptive diarrhea

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12
Q

Diarrhea type associated with inflammatory disease, characterized by purulent, bloody stools that persists during fasting

A

Exudative diarrhea

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13
Q

Genetic defect associated with celiac disease

A

Class II HLA-DQ2 or HLA-DQ8 allele

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14
Q

Conditions associated with celiac disease

A

DM type I
Thyroiditis
Sjogren syndrome
IgA nephropathy

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15
Q

Part of gluten with most disease producing components of celiac

A

Gliadin

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16
Q

Sensitive marker of celiac disease, even in the absence of epithelial damage and villous atrophy

A

Intraepithelial lymphocytosis of CD8+ T cells

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17
Q

Microscopy findings in celiac disease

A

Crypt hyperplasia
Villous atrophy

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18
Q

Extraintestinal complaints associated with celiac disease

A

Arthritis
Aphthous stomatitis
Iron deficiency anemia
Delayed puberty
Short stature
Dermatitis herpetiformis

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19
Q

Silent celiac disease

A

Positive serology and villous atrophy without symptoms

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20
Q

Latent celiac disease

A

Positive serology without villous atrophy

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21
Q

Markers used for diagnosis of adult celiac disease

A

IgA anti-tissue transglutaminase
IgA anti-endomysial antibodies
IgG anti-tissue transglutaminase antibodies with IgA deficiency

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22
Q

Malignancies associated with celiac disease

A

Enteropathy associated T cell lymphoma

Small intestine adenocarcinoma

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23
Q

Intestinal syndrome associated with high oral vaccine failure rate

A

Environmental enteric dysfunction

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24
Q

Causal organism of Whipple disease

A

Trpheryma whipplei

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25
Q

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.

A

Whipple disease

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26
Q

Shaggy mucosal surface of intestinal epithelium with white-yellow mucosal plaques

A

Whipple disease

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27
Q

Microscopy shows dense accumulation of distended foamy macrophages in the lamina propria of the small intestine with PAS positive and diastase resistant granules

A

Whipple disease

28
Q

Extraintestinal symptoms of Whipple disease

A

Arthritis
Fever
Lymphadenopathy
Neurologic, cardiac, or pulmonary disease

29
Q

Findings of stool in lactase deficiency

A

Decreased pH due to intestinal bacteria fermenting lactose

Increased stool osmolality

30
Q

Inheritance of congenital lactase deficiency

A

Autosomal recessive

31
Q

Inheritance of abetalipoproteinemia

A

Autosomal recessive

32
Q

Rare disease marked by an inability to assemble triglyceride rich lipoproteins

A

Abetalipoproteinemia

33
Q

Mutation associated with abetalipoproteinemia

A

Microsomal triglyceride transfer protein (MTP)

34
Q

Blood smear shows acanthocytes. Microscopy shows triglyceride accumulation leading to epithelial vacuolization. Plasma is completely devoid of lipoproteins containing apolipoprotein B.

A

Abetalipoproteinemia

35
Q

GI features of cystic fibrosis

A

Thick, viscous stools
Intestinal obstruction
Pancreatic intraductal concretions
Chronic pancreatitis
Exocrine pancreas deficiency (eventually)

36
Q

Inheritance and mutation of familial form of autoimmune enteropathy

A

X-linked

Loss of function in FOXP3 gene

37
Q

IPEX of familial autoimmune enteropathy

A

Immune dysregulation
Polyendocrinopathy
Enteropathy
X-linkage

38
Q

Finding in autoimmune enteropathy not seen in celiac disease

A

Neutrophils infiltrating the intestinal mucosa

39
Q

50 yo female presents with chornic, watery, non-bloody diarrhea without weight loss. Infection and celiac have been ruled out. Colon biopsy shows subepithelial collagen layer of normal thickness and increase in intraepithelial T lymphocytes.

A

Lymphocytic microscopic colitis

40
Q

50 yo female, chronic smoker, presents with chronic, watery, non-bloody diarrhea without weight loss. Infection and celiac have been ruled out. Colon biopsy shows dense subepithelial layer and increased number of intraepithelial T lymphocytes.

A

Collagenous microscopic colitis

41
Q

Rome IV criteria for IBS

A

Abdominal at least 1/wk for 3 mos

At least 2 symptoms related to defecation

Change in stool frequency and/or form

42
Q

Strongest risk gene for IBD

A

Polymorphisms of NOD2

43
Q

Mutation associated with very early onset IBD

A

Mutations in single genes required for epithelial ion transport, immune signaling, or host defense (eg IL-10 receptor)

44
Q

Colonoscopy reveals diffuse continuous ulceration of the colon and rectum with filiform polyposis and mucosal bridges.

A

Ulcerative colitis

45
Q

Colon biopsy shows crypt abscess, limited to mucosa, pseudopyloric metaplasia, Paneth cell metaplasia, and villiform mucosal architecture.

A

Ulcerative colitis

46
Q

Chronic, relapsing condition characterized by attacks of bloody diarrhea with stringy mucoid material, lower abdominal pain, and tenesmus. Cramps are temporarily relieved by defecation.

A

Ulcerative colitis

47
Q

Risk of this conditions is increased in UC

A

PSC
Colonic adenocarcinoma

48
Q

Complication of UC

A

Toxic megacolon

49
Q

Condition indicated by lead pipe sign on radiology

A

Toxic megacolon

50
Q

Areas of the intestine commonly involved in Crohn’s disease

A

Terminal ileum
Ileocecal valve
Cecum

51
Q

Gross appearance of edema and loss of normal mucosal folds in the intestines with serpentine ulcers. Cobblestone appearance and hypertrophy of muscularis propria.

A

Crohn’s disease

52
Q

Intestinal biopsy shows distortion and disorganization of mucosal glands, bizarre branching shapes, transmural inflammation, cryptitis, crypt abscess, and ulceration.

A

Crohn’s disease

53
Q

Abundant neutrophils infiltrate and damage crypt epithelium

A

Cryptitis

54
Q

Microscopic hallmark of Crohn’s disease

A

Non-caseating granulomas

55
Q

Pt has intermittent attacks of relatively mild diarrhea, fever, and abdominal pain that can be triggered by stress. They have several cutaneous nodules.

A

Crohn’s disease

56
Q

Complications of Crohn’s disease

A

Fibrosing structure
Fistulae
Perforation and peritoneal abscess
Gallstones or renal stones

57
Q

Radiology finding associated with Crohn’s disease

A

String sign

58
Q

Most common cause of intestinal obstruction in children <2 yo

A

Intussusception

59
Q

Most common intussusception type

A

Ileocolic

60
Q

Infant presents with intermittent colicky abdominal pain every 10-20 minutes. There is palpable abdominal mass on examination. Parent reports red currant jelly stools and non-bilious emesis.

A

Intussusception

61
Q

Closed loops through which other viscera slide and get entrapped, associated with adhesions

A

Fibrous bridges

62
Q

Complications of diverticulosis

A

Perforation
Segmental diverticular disease associated colitis
Obstruction
Hemorrhage

63
Q

Complications of appendicitis

A

Pylephlebitis
Portal V thrombosis
Liver abscess
Bacteremia and septicemia

64
Q

Neurogenic failure, or loss of peristalsis in the intestine in the absence of any mechanical obstruction

A

Paralytic ileus

65
Q

Pt presents with mild, diffuse, continuous abdominal pain and N/V. Bowel sounds are absent. Abdominal x-ray shows distended gas-filled loops of small and large intestine.

A

Paralytic ileus

GI II (31 decks)

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