Ch. 15 Keyterms

Question 1

Amniocentesis

Answer 1

Amniotic fluid obtained by ultrasound guided needle aspiration of amniotic fluid around the fetus.

Question 2

Conductance defect

Answer 2

channel does open but chloride does not move effectively.

Question 3

CFTR

Answer 3

A protein that sits on the surface of cells and transports chloride and other molecules such as bicarbonate. It is located on chromosome 7.

Question 4

Electrical potential difference

Answer 4

the amount of energy required to move an electrical current from one point to another

Question 5

Fecal Fat test

Answer 5

Measures the amount of fat in the infants stool and percentage of dietary fat that is not absorbed by the body.

Question 6

Gating defect

Answer 6

Channel does not open

Question 7

Genetic counseling

Answer 7

Used to diagnose many genetic disorders and chromosomal abnormalities in the fetus.

Question 8

Genetic test

Answer 8

analyze DNA for the presence of CFTR gene mutations.

Question 9

IRT (immunoreactive trypsin test)

Answer 9

Is measured from the blood dots collected on all newborn infants on the Gutherie cards.

Question 10

Inhaled dNASE

Answer 10

An enzyme that breaks down the DNA of the thick bronchial mucus associated with chronic bacterial infections with CF.

Question 11

Inhaled TOBI

Answer 11

An inhaled antibiotic used to treat CF or P. aeruginosa.

Question 12

Ivacaftor

Answer 12

A new oral potentiator molecule that has been proven effective to improve cell function and clinical status in patients with CF WITH THE G551D mutation.

Question 13

Lung or heart transplant

Answer 13

The new lungs don’t have CF because they came from a good person but they can still get infected with the CF organism from the trachea.

Question 14

Meconium lleus

Answer 14

An obstruction of the small intestine of the newborn that is caused by the impaction of thick, dry, tenacious meconium, usually at or near the ileocecal valve.

Question 15

NPD

Answer 15

the electrical potential difference. Can be measured with a surface electrode over the nasal epithelial cells lining the inferior turbinate.

Question 16

Pilocarpine

Answer 16

Pilocarpine – Colorless, odorless sweat producing chemical applied to the patient’s arm or leg (usually forearm).

Question 17

Standard Mendelian pattern

Answer 17

25% chance that each child will have CF, 25% that each child will be completely normal, 50% chance that each child will be a carrier.

Question 18

Sweat chloride

Answer 18

> 60 mEq/l

Question 19

Sweat test

Answer 19

Diagnostic test for CF. Used for the identification of 98% of CF patients. Measures the amount of sodium and chloride in the patient’s sweat.