CF

Question 1

Cystic Fibrosis is a multisystem disease affecting what systems

Answer 1

Digestive system, sweat glands, and the reproductive tract and progressive lung disease

Question 2

Major cause of morbidity and mortality

Answer 2

Progressive lung disease

Question 3

CF is located on what chromosome

Answer 3

Chromosome 7

Question 4

What protein is affected in CF

Answer 4

Cystic fibrosis transmembrane conductance regulator (CFTR) protein

Question 5

Autosomal recessive exocrinopathy

Answer 5

Affects multiple epithelial tissues

Question 6

CFTR protein

Answer 6

Regulates volume and composition of exocrine secretion

Question 7

How many potential mutations in the CFTR gene

Answer 7

1900 different mutations

Question 8

Most common mutation

Answer 8

• Delta F508 (deletion of 3 DNA bases coding for 508th AA residue phenylalanine)
• Found in 70% of caucasian patients

Question 9

Class I mutations

Answer 9

• Defective protein production
• caused by nonsense, frameshift, or splice-site mutations, leads to premature termination of the mRNA and complete absence of CFTR protein
• 60% of Ashkenazi Jews with CF carry at least one copy of a nonsense mutation

Question 10

Class II mutations

Answer 10

• Defective protein processing
• Causes abnormal post-translational processing of the CFTR protein, prevents the protein from trafficking to the correct cellular location
• delta F508 mutation, 70% of disease causing alleles in the US

Question 11

F508del

Answer 11

50% of CF patients are homozygous for F508del, and 90% will carry at least one copy of this mutation

Question 12

Class III mutations

Answer 12

• Lead to diminished channel activity in response to ATP

- G551D most common class III mutation in Caucasian populations

Question 13

Class IV mutations

Answer 13

• Protein produced and correctly localized to the cell surface
• The rate of ion flow and the duration of channel opening are reduced when compared to normal CFTR function

Question 14

Class V mutations

Answer 14

Reduced amounts of functions CFTR protein , alters stability of mRNA

Question 15

Mannose-binding lectin

Answer 15

important component of the complement system, and deficiencies in this protein increase the risk for pyogenic infections

Question 16

Transforming growth factor-beta (TGF-beta)

Answer 16

• potent suppressor of T cell activation and can decrease T cell proliferation and cytokine production
• TGF-beta 1 gene were associated with more severe CF lung disease

Question 17

Immunoreactive trypsinogen (IRT)

Answer 17

CF screening test checks for a chemical made by the pancreas. When pancreas is stressed before a baby is born more IRT is released

Question 18

≥ 60 mmol/L

Answer 18

Indicative of cystic fibrosis

Question 19

Classic CF

Answer 19

• The typical form of cystic fibrosis (CF) is diagnosed if a patient demonstrates clinical disease in one or more organ systems
• Elevated sweat chloride test

Question 20

Non-classic CD

Answer 20

lower frequency of delta F508 mutations (most common)

Question 21

Respiratory Flora includes

Answer 21

Complex bacterial flora that includes Staphylococcus aureus, Haemophilus influenzae, and Pseudomonas aeruginosa

Question 22

Pancreatic secretions

Answer 22

obstruct pancreatic ducts and impair production and flow of digestive enzymes to the duodenum

Question 23

Pancreatic CF

Answer 23

• loss of pancreatic islet cell mass

- CF-related DM

Question 24

Reproductive CF

Answer 24

• Nearly half of all men with congenital bilateral absence of the vas deferens and normal lung function have two CFTR mutations
• Females with CF are found to be less fertile than normal healthy women.

Question 25

CFTR-related metabolic syndrome (CRMS)

Answer 25

If only one disease-causing mutation (or one disease-causing mutation and another mutation that is not clearly categorized) is identified in an asymptomatic infant with normal or intermediate sweat chloride results, the infant is given the provisional diagnosis

Question 26

Staphylococcus aureus

Answer 26

Bacterial pathogen most frequently identified in respiratory secretions of CF infants and children

Question 27

Burkholderia cepacia complex

Answer 27

• Associated with an accelerated decline in pulmonary function and shortened survival in CF
• Infection with B. cenocepacia is considered to be a contraindication to transplantation in many centers