Exam 3 Deficiencies Flashcards
1
Q
Epidermolysis bullosa simplex
A
keratinopathy
mutation in KRT5 + KRT14
s/s severe burn-like blistering of skin
tissue is easily damaged by rubbing or pressure
2
Q
Osteogenesis Imperfecta
A
Type I
- not enough collagen
- milder form due to gene deletion
Type II
- unstable collagen
- due to Gly residue substitution
s/s
- brittle + thin bones (lots of Fx)
- blue sclera
- hearing loss
Treat w/
- bisphosphonates (inhibit osteoclast)
- Vit C + Vit D
3
Q
Ehlers-Danlos Syndrome
A
Caused by a single gene mutation
An inherited defect in Type V Collagen
- synthesis of fibrillar collagen
- assembly of fibrillar collagen
Common Form S/S
- stretchable skin
- hypermobile joints
- short stature
- epilepsy
Lethal Vascular Form
- causes rupture of arteries
- mutation in Type III collagen
- thin pinched nose
- prominent eyes
- lobeless ears
4
Q
Scurvy
A
Caused by
- poor collagen hydroxylation due to a lack of Vit C
S/S
- poor wound healing
- bleeding gums
- loose teeth
- confusion
- fatigue
5
Q
alpha1-antitrypsin deficiency
A
a1-antitrypsin is a serine protease inhibitor of elastase
- keeps elastin from being degraded by elastase
mutations prevent proper folding of alpha1-antitrypsin
- insufficient [] allows for proteolysis of elastin in vessels
- destruction of connective tissue in lungs
