Case 3: CFTR

Question 1

What % of patients with CF reach adulthood

Answer 1

80%

Question 2

What type of inheritance is CF

Answer 2

most common AUTOSOMAL RECESSIVE

Question 3

Symptoms

Answer 3

body produces abnormally thick, sticky mucus that leads to airway obstruction, lung infections ,and end-stage lunch disease.

Chronic lung infections invovle a limited number of organisms includien P aeruginosa, which is implicate most oftn ,follwoed by S aureus, H influenzae, and S maltohlia

Question 4

Mutation

Answer 4

in CFTR genet

deletion of phenylalanine at position 508 on chromosome 7

Question 5

Newborn screening and CF

Answer 5

required in 8 states, althouhg national screening plans hav enot been mandated

Question 6

GI symptoms

Answer 6

intestinal obstructiona nd pancreatic insufficienty

Question 7

Fertility

Answer 7

females are not infertaile as male counterparts

Birth control must be discussed with femal patients reaching sexual matureity

Question 8

Cystic Fiborsis FOudation

Answer 8

has guidelens to help in care of patients with complex disease