Cystic Fibrosis, other AR diseases, mascular dystrophies and other X link disorder Flashcards Preview

Biochemistry FA > Cystic Fibrosis, other AR diseases, mascular dystrophies and other X link disorder > Flashcards

Flashcards in Cystic Fibrosis, other AR diseases, mascular dystrophies and other X link disorder Deck (68)
Loading flashcards...
1

Most common lethal disease in Caucasian population

Cystic fibrosis

2

Cystic fibrosis inheritance mode

AR

2

CFTR function

Encodes an ATP gated CL- channel that secretes CL- in lungs and GI tracts and reabsorbs CL- in sweat glands

3

Cystic fibrosis defect and mutation

CFTR gene on ch 7
Deletion of phe508 / AR

4

Cystic fibrosis pathophysiology

Misfolded protein accumulates in RER-->decreased CL- and (water) secretions--> increased sodium and water reabsorption via epithelial sodium channels--> THICK MUCUS SECRETIONS INTO LUNGS AND GI. Also more negative transepithelial potential negative

5

CL- concentration in sweat in cystic fibrosis

>60meq/L

7

Diagnosis of cystic fibrosis

1. CL> 60 meq/L in sweat
2. Contraction alkalosis and hypokalemia (Na/water losses and concomitant renal K+/H+ wasting) --> just like LOOP DIURETICS
3. increased immunoreactive trypsinogen (newborn screening)

8

Cystic fibrosis treatment

1. N-acetylcysteine
2. Dornase alfa (aerolized)
3. pancreatic enzymes for insuficiency
4. Azithromycn (as anti-inflammatory agent)
5. chest physiotherapy
6. albuterol

8

N-acetylcysteine mechanism of action

Loosens mucus plugs (cleaves disulfide bonds within mucus glycoprotein)

9

Cystic fibrosis complications

1. Recurrent pulmonary infections (Pseudomonas in adolescence, S. aureus in early infancy )
2. Chronic bronchitis and bronchiectasias (reticulonobular pattern on CXR)
3. Pancreatic insufficiency, malabsorption and steatorrhea
4. NASAL POLYPS
5. Meconium ileus in newborn
6. Infertility in males (absence of vas deferens, absent sperm spermatogenesis may be unaffected)
7. Clubbing nails
8. Subinfertility in females (amenorrhea, abnormally thick cervical mucus
9. biliary cirrhosis
10 liver disease

10

Dormase alfa

DNAase to clear leukocyte debris

11

CFTR ch

7

12

Albinism mode of inheritance

AR

13

Infantile polycystic kidney disease (ARPKD) mode of inheritance

AR

14

Cystic fibrosis mode of inheritance

AR

15

Glycogen storage disease modes of inheritance

AR

16

Hemochromatosis mode of inheritance

AR

17

Kartagener mode of inheritance

AR

18

All mucolysaccharides are AR EXCEPT

Hunter syndrome

19

Phenylketonuria mode of inheritance

AR

20

Sickle cell anemia mode of inheritance

AR

21

Thalassemias mode of inheritance

AR

22

Wilson disease mode of inheritance

AR

23

All shingolipidoses are AR except

Fabry disease

24

Briton agammaglobulinemia mode of inheritance

XR

25

Wiskott-Aldrich syndrome mode of inheritance

XR

26

Fabry disease mode of inheritance

XR

27

Ocular albinism mode of inheritance

XR

28

Lesch-Nyhan mode of inheritance

XR

29

Duchenne and becker mascular dystrophy mode of inheritance

XR