Diseases of Malabsorption Flashcards

1
Q

What is celiac disease?

A

A digestive disease that damages the small intestine and interferes with absorption of nutrients from food

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2
Q

What can people with celiac disease not tolerate?

A

Gluten: a protein in wheat rye and barley

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3
Q

What occurs when celiac patients ingest gluten?

A

Their immune system destroy villi in the SI

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4
Q

What is a malabsorption disease?

A

Nutrients are not properly absorbed

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5
Q

What are the general symptoms of celiac disease in children and adults?

A

Children: digestive symptoms
Adults: less likely to have digestive symptoms

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6
Q

What is tested for in the blood for those with celiac disease?

A

Anti-tissue transglutaminase antibodies (tTGA)

Anti-endomysium antibodies (EMA)

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7
Q

If blood tests and symptoms suggest celiac disease what is done next?

A

Intestinal biopsy

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8
Q

What antibiotic controls the rash symptoms of dermatitis herpetiformis?

A

Dapsone

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9
Q

What is the only treatment for celiac disease?

A

A gluten free diet

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10
Q

What is refractory celiac disease?

A

When a patient has damaged unrepairable small intestines and do not absorb nutrients

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11
Q

Without treatment, what can people with celiac disease develop?

A

Osteoporosis
Anemia
Cancer

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12
Q

What is congenital sucrose-isomaltase deficiency?

A

The inability to break down sugars sucrose and maltose

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13
Q

What type of sugars are sucrose and maltose and where are they found respectively?

A

Disaccharides
Sucrose: fruits (glucose and fructose)
Maltose: grains (2 glucose)

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14
Q

When does sucrose-isomaltase deficiency become apparent?

A

When a child is weaned and beginning to eat fruit juices and grains

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15
Q

What is the mutation in SI deficiency?

A

SI gene

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16
Q

What is the inheritance pattern for SI deficiency?

A

Autosomal recessive

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17
Q

What type of disease is Crohn’s disease?

A

Inflammatory bowel disease

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18
Q

What does Crohn’s disease typically affect?

A

Ileum and beginning of colon

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19
Q

General symptoms of Crohn’s disease?

A

Diarrhea
Rectal bleeding
Urgent BM

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20
Q

How does Crohn’s cause inflammation?

A

Immune attack against healthy bacteria

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21
Q

What is ulcerative colitis?

A

Lining of the colon becomes inflamed and develops tiny ulcers producing pus and mucous

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22
Q

What causes the symptoms of ulcerative colitis?

A

WBC mounting attack against food, bacteria causing inflammation in the lining of the intestines

23
Q

Major difference between Crohn’s and ulcerative colitis?

A

Crohn’s: can affect any part of intestines and any layer of it
Ulcerative colitis: only affects lining of the colon

24
Q

Signs and symptoms of ulcerative colitis?

A

Loose urgent BM
Bloody stool
Diarrhea

25
Q

Tests for Crohn’s:

A

Blood and stool
X-rays of upper and lower GI with barium
Endoscopy and biopsy

26
Q

What does medication do treat Crohn’s disease?

A

Suppress immune system’s abnormal inflammatory response

27
Q

What are 5 drugs that are to treat Crohn’s?

A
Aminosalicylates (5-ASA)
Antibiotics
Biologic therapies
Corticosteroids
Immunomodulators
28
Q

What is Hartnup disorder?

A

Inherited metabolic condition that involves the transport of certain AAs in the SI and kidneys

29
Q

Symptoms of Hartnup?

A
Mood change
Nervous system problems
Skin rash when exposed to sunlight 
Short stature
Uncoordinated movements
30
Q

Tests for Hartnup?

A

Urine test that has high levels of neutral AA and normal levels of other AA

31
Q

Gene testing for Hartnup disease?

A

SLC6A19

32
Q

Hartnup disease treatments?

A

Avoid sunlight
High-protein diet
Supplements of nicotinamide
Antidepressant or mood stabilizers

33
Q

Complications of Hartnup?

A

Changes in skin color that are permanent

34
Q

What does SLC6A19 code for?

A

A sodium-dependent and chloride-independent neutral amino acid transporter

35
Q

Where is SLC6A19 found?

A

5p15.33

36
Q

How many mutations in SLC6A19 can cause Hartnup disorders?

A

Six

37
Q

Four phases of nutrient absorption:

A

Intraluminal
Terminal
Transepithelial
Lymphatic transport of absorbed lipids

38
Q

Intraluminal digestion:

A

Proteins, carbs, fat broken down into forms able to be absorbed

39
Q

Terminal digestion:

A

Hydrolysis of carbs and peptides by disaccharidases and peptidases in the brush border

40
Q

Transepithelial digestion:

A

Nutrients, fluids, electrolytes transported across and processed within SI epithelium

41
Q

Skin disease caused by celiac disease:

A

Dermatitis herpetiformis

42
Q

Secretory diarrhea:

A

Isotonic stool and persists during fasting

43
Q

Osmotic diarrhea:

A

Lactase deficiency, excessive osmotic forces; diarrhea fluid more than 50 mOsm more concentrated than plasma, stops with fasting

44
Q

Malabsorptive diarrhea:

A

Associated with steatorrhea; relieved by fasting

45
Q

Exudative diarrhea:

A

Inflammatory disease purulent bloody stools that continue during fasting

46
Q

Disease producing component in Celiac disease:

A

Gliadin

47
Q

What does Gliadin induce?

A

IL-15

48
Q

What does IL-15 trigger?

A

Activation and proliferation of CD8+ intraepithelial lymphocytes

49
Q

What do the CD8+ intraepithelial lymphocytes express?

A

NKG2D (receptor for MIC-A)

50
Q

What occurs to lymphocytes that express MIC-A?

A

They are attacked by NKG2D-expressing intraepithelial lymphocytes

51
Q

What occurs once the enterocytes expressing MIC-A are damaged?

A

Gliadin peptides are able to get into the lamina propria and are deaminated by tissue transglutaminase

52
Q

When do cells produce MIC-A?

A

When they are stressed

53
Q

What do Gliadin peptides cause once inside the lamina propria?

A

Interact with HLA-DQ2 or HLA-DQ8 stimulating CD4+ T cells to produce cytokines contributing to tissue damage

54
Q

What HLA do all people with celiac carry?

A

Class II HLA-DQ2 or HLA-HQ8