Newman CF

Question 1

inheritance of CF

Answer 1

autosomal recessive

Question 2

chromosome

Answer 2

long arm of 7

Question 3

CF affects what glands

Answer 3

Exocrine (lungs, pancreas, liver, intestines, gonads)

Question 4

ethnicity for CF

Answer 4

ashkenazi Jews

Question 5

describe the ion effects of CF

Answer 5

• Decrease secretion of chloride

- increase reabsorption of sodium and water across epithelial cells

Question 6

Things that affect the pnenotypic presentation of CF pts

Answer 6

• non-genetic factors (environment, etc)

- modifier genes

Question 7

Most common clinical presentations of CF?

Answer 7

• chronic and progressive lung disease

- exocrine pancreatic insufficiency

Question 8

pathogens in early childhood

Answer 8

• Staph Aureus

- nontypeable H. flu

Question 9

pathogens later in life

Answer 9

pseudomonas

Question 10

pulmonary function spirometry finding for CF

Answer 10

obstructive disease . . scooping of expiratory curve

Question 11

cause of death in CF

Answer 11

respiratory failure and cor pulmonale

Question 12

What is the GI symptom in a neonate associated with CF

Answer 12

meconium ileus or meconium plug

abdominal distention at birth. vomiting. not passing stool

Question 13

Describe pancreas and CF

Answer 13

• pancreatic insufficiency
• pancreatic enzymes are prevented from reaching the gut
• you get fat soluble vitamin deficiency and nasty stools
• failure to thrive

Question 14

symptom of CF patients in 8-12% of those older than 25

Answer 14

diabetes mellitis

Question 15

Liver disease in CF

Answer 15

ductules are plugged, OBSTRUCTIVE CIRRHOSIS

Question 16

Gall bladder and CF

Answer 16

Gall stones more prevalent

Question 17

End result of Liver involvement in CF

Answer 17

Portal HTN/esophageal varices

Question 18

Male genitourinary in CF

Answer 18

azospermia secondary to agenesis of the vas deferens

Question 19

Result of vitamin A deficiency in CF

Answer 19

dry skin

Question 20

Result of vitamin B deficiency in CF

Answer 20

cheilosis

Question 21

upper respiratory and CF

Answer 21

nasal polyps

Question 22

LOOK AT CRITERIA FOR DIAGNOSIS OF CF. SLIDE 35 OF NEWMAN

Answer 22

SLIDE 35!!

Question 23

Describe when you do newborn screening for CF

Answer 23

universally required in all 50 states

Question 24

What is the newborn screening for CR testing for

Answer 24

immunoreactive trypsinogen (IRT) which is a pancreatic protein typically elevated in infants with CF

Question 25

What do you do if ou find a high IRT in a newborn

Answer 25

repeat IRT and/or perform sweat cholride or DNA test

Question 26

Medications frequently used for CF

Answer 26

• nebulized, inhaled, oral, or IV antibiotics

- high dose NSAIDS