Celiac Disease and CF

Question 1

Protein and carbohydrate assimilation may also be adversely impacted by disease states that reduce the absorptive surface area of the

Answer 1

Small intestine

Question 2

This usually occurs via a selective loss of mature

Answer 2

Villus enterocytes

Question 3

Perhaps the most common disorder in which such a change occurs is

Answer 3

Celiac disease

Question 4

Results in an inappropriate immune response to a dietary constituent known as α-gliadin

Answer 4

Celiac disease

Question 5

A constituent of gluten that is a key structural component of wheat and some other grains

Answer 5

α-gliadin

Question 6

The most severe form of celiacs disease shows what type of mucosa in the small intestine?

Answer 6

Flat mucosa

Question 7

This results in the total loss of intestinal

Answer 7

Villi

Question 8

The site to which both brush border hydrolases and nutrient transporters are localized

Answer 8

Small intestine Villi

Question 9

Patients with celiac’s disease may present with symptoms of impaired

Answer 9

Nutrient uptake

Question 10

Celiac patients also hve undigested/absorbed nutrients remaining in the lumen that are then acted on by bacteria. This results in the symptoms of

-similar to lactose intolerance

Answer 10

Bloating and abdominal cramps

Question 11

The treatment for patients with celiac disease is strict avoidance of foods containing

Answer 11

α-gliadin

Question 12

Within a short time, exclusion of these substances from the diet results not only in the resolution of symptoms, but also restoration of the

Answer 12

Intestinal mucosa

Question 13

What is the classic presentation of Celiac disease?

Answer 13

Chronic diarrhea, steatorrhea, and weight loss

-also iron and vitamin deficiencies

Question 14

Affects women 1.5 times more than men

Answer 14

Celiacs disease

Question 15

Celiac disease develops only in people that habe the

Answer 15

HLA-DQ2 or HLA-DQ8 Haplotype

Question 16

These haplotypes expressed on antigen presenting cell surfaces can bind the deaminated gluten peptide found in

Answer 16

Wheat, Rye, and Barley

Question 17

This triggers the abnormal

Answer 17

Immune response

Question 18

The result is then the development of antibodies against

Answer 18

Gliadin, transglutaminase, and endomysin

Question 19

Seen in 27-50% of patients

Answer 19

Diarrhea

Question 20

May develop due to vitamin D deficiency and secondary hyperparathyroidism that can accompany Celiac disease

Answer 20

Osteopenia and osteoporosis

Question 21

Celiac disease is strongly associated with

-develops secondary to antibodies against epidermal transglutaminase

Answer 21

Dermatitis herpetiformis

Question 22

Celiac disease is far more common in patients with

Answer 22

Down Syndrome

Question 23

Celiac disease increases the risk of other autoimmune disorders including

Answer 23

Thyroiditis and type 1 DM

Question 24

The gold standard for diagnosing Celiac disease is

Answer 24

Duodenal biopsy

Question 25

Highly accurate to diagnose celiacs but not perfect

Answer 25

Serological testing

Question 26

The initial serologic test for celiacs is to test

Answer 26

Tissue glutaminase antibody (IgA tGT)

Question 27

What is the sensitivity and specificity of the Tissue glutaminase antibody (IgA tGT)

Answer 27

87% sensitive and 97% specific

Question 28

Another very accurate test which is 87% sensitive and 99% specific

Answer 28

Endomysial antibody (IgA EMA)

Question 29

Virtually all patients with celiac disease express

Answer 29

HLA-DQ2 or HLA-DQ8 heterodimers

Question 30

Is 100% sensitive, but only 57-75% specific

Answer 30

HLA typing

Question 31

Celiac disease can be virtually ruled out in patients who are negative for

Answer 31

HLA-DQ2 or HLA-DQ8

Question 32

May be useful in patients who instituted a gluten-free diet before evaluation in whom IgA-tGT and IgA EMA antibody levels may be low due to decreased disease activity

Answer 32

HLA typing

Question 33

The most widespread autosomal recessive disorder among the caucasian population

Answer 33

Cystic Fibrosis

Question 34

A life-limiting disease which involves multisystem dysfunction mainly in the respiratory tract, gastrointestinal system, pancreas, and reproductive organs

Answer 34

Cystic Fibrosis (CF)

Question 35

CF involves a mutation in

Answer 35

CFTR

Question 36

Mediates Cl- secretion and it is expressed on the apical surface of all exocrine epithelia that includes lung airways, pancreas, intestine, testis

Answer 36

CFTR

Question 37

Shown to regulate the secretion of bicarbonate, glutathione and a variety of other transport proteins and cellular processes

Answer 37

CFTR

Question 38

CFTR belong to which family of transporters?

Answer 38

ATP-Binding Cassette (ABC)

Question 39

CFTR is primarily regulated by cAMP signaling and

Answer 39

Protein phosphorylation

Question 40

Loss of function of CFTR affects all exocrine epithelia due to a failure to

Answer 40

Hydrate Macromolecules

Question 41

In the lung, CF results in -causes chronic infection and inflammation of the local airways

Answer 41

Mucus retention

Question 42

In the pancreas, CF leads to decreased secretion and more acidic fluid causing precipitation of

Answer 42

Zymogens

Question 43

Falls into six groups according to their mechanism by which they affect the synthesis, traffic and function of CFTR

Answer 43

CFTR Mutations

Question 44

The most severe among the groups and results in no protein production

Answer 44

Class I

Question 45

Include the synthesis of a misfolded improperly leading to its degradation by the ubiquitin-proteasome pathway

Answer 45

Class II Mutations

Question 46

The most common mutation in CF is falls into class II and it is due to the deletion of

Answer 46

Phenylalanine at position 508

Question 47

Cause defects in the Cl− channel regulation -One of the mutations is G551D.

Answer 47

Class III

Question 48

Acts as a potentiator by increasing the flow of Cl- ions through the activated CFTR -Can be used to treat Class III

Answer 48

Ivacaftor

Question 49

Mostly due to missense mutations leading to correctly trafficked protein, but with low Cl- flow

Answer 49

Class IV mutations

Question 50

Results in reduced levels of, but otherwise normal CFTR

Answer 50

Class V Mutations

Question 51

Cause reduced stability of CFTR

Answer 51

Class VI

Question 52

The first four classes of CFTR mutations which are more severe than the last two classes lead to

Answer 52

Panreatic Insufficiency

Question 53

Pancreatic sufficient mutations

Answer 53

Classes V and VI

Question 54

Secrete digestive enzymes including zymogens into the acinar lumen

Answer 54

Pancreatic Acinar Cells

Question 55

This is accompanied with the secretion of Cl- and HCO3- into the ductal lumen which move fluid with them to neutralize the acidic chyme emptied from the stomach into the duodenum and also increase the activity and solubility of these

Answer 55

Digestive Enzymes

Question 56

In CF, absence of bicarbonate secretion, hyperacidity, not only leads to the precipitation of the digestive enzymes, but also precipitation of

Answer 56

Bile Acids

Question 57

This precipitation of Bile Acids leads to the development of

Answer 57

Meconium Ileus

Question 58

Also associated with increased trypsinogen autoactivation into trypsin leading to activation of the activation of zymogens damaging the endocrine functions of the pancreas

Answer 58

Hyperacidity in CF

Question 59

Obstruction of ducts starts in utero and continues after birth releasing pancreatic proteins into the circulation, hence the immunoreactive trypsinogen (IRT) for newborn screening of

Answer 59

CF