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

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

1
Q

Most common lethal disease in Caucasian population

A

Cystic fibrosis

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2
Q

Cystic fibrosis inheritance mode

A

AR

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2
Q

CFTR function

A

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

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3
Q

Cystic fibrosis defect and mutation

A

CFTR gene on ch 7

Deletion of phe508 / AR

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4
Q

Cystic fibrosis pathophysiology

A

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

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5
Q

CL- concentration in sweat in cystic fibrosis

A

> 60meq/L

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7
Q

Diagnosis of cystic fibrosis

A
  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)
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8
Q

Cystic fibrosis treatment

A
  1. N-acetylcysteine
  2. Dornase alfa (aerolized)
  3. pancreatic enzymes for insuficiency
  4. Azithromycn (as anti-inflammatory agent)
  5. chest physiotherapy
  6. albuterol
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8
Q

N-acetylcysteine mechanism of action

A

Loosens mucus plugs (cleaves disulfide bonds within mucus glycoprotein)

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9
Q

Cystic fibrosis complications

A
  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
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10
Q

Dormase alfa

A

DNAase to clear leukocyte debris

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11
Q

CFTR ch

A

7

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12
Q

Albinism mode of inheritance

A

AR

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13
Q

Infantile polycystic kidney disease (ARPKD) mode of inheritance

A

AR

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14
Q

Cystic fibrosis mode of inheritance

A

AR

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15
Q

Glycogen storage disease modes of inheritance

A

AR

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16
Q

Hemochromatosis mode of inheritance

A

AR

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17
Q

Kartagener mode of inheritance

A

AR

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18
Q

All mucolysaccharides are AR EXCEPT

A

Hunter syndrome

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19
Q

Phenylketonuria mode of inheritance

A

AR

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20
Q

Sickle cell anemia mode of inheritance

A

AR

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21
Q

Thalassemias mode of inheritance

A

AR

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22
Q

Wilson disease mode of inheritance

A

AR

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23
Q

All shingolipidoses are AR except

A

Fabry disease

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24
Q

Briton agammaglobulinemia mode of inheritance

A

XR

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25
Q

Wiskott-Aldrich syndrome mode of inheritance

A

XR

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26
Q

Fabry disease mode of inheritance

A

XR

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27
Q

Ocular albinism mode of inheritance

A

XR

28
Q

Lesch-Nyhan mode of inheritance

A

XR

29
Q

Duchenne and becker mascular dystrophy mode of inheritance

A

XR

30
Q

Hunter syndrome mode of inheritance

A

HR

31
Q

Hemophilia A and B mode of inheritance

A

XR

32
Q

Ornithine transcarbamylase deficiency mode of inheritance

A

XR

33
Q

Which gene has the largest coding region of any human gene

Clinical correlation

A 
Dystrophin gene (DMD)
Increased chance of spontaneous mutation
34
Q

DMD

A

Dystrophin gene

35
Q

Which gene has the largest coding region of any human gene

Clinical correlation / mode of inheritance

A 
Dystrophin gene (DMD)
Increased chance of spontaneous mutation 
XR
36
Q

Dystrophin/primary tissue of action

A

It helps anchor muscle fibers, primary in skeletal and caridac muscle

37
Q

Dystrophin function

A

Anchor muscle fibers
Connects intracellular cytoskeleton (actin) to the transmembrane proteins α and β dystroglycan , which are connected to extracellular matrix

38
Q

Duchenne type of mutation

A

X-linked frameshift mutation

40
Q

Duchenne pathophysiology

A

X-linked frameshift mutation–> truncated dystrophin protein –>accelerated muscle breakdown and inhibited muscle regeneration

40
Q

Gower maneuver

A

Patients use upper extremity to help them stand up

41
Q

Duchenne clinical manifestations

A
  1. Weakness begins in pelvic gridle muscles and progress superiorly
  2. Pseudohypertrophy of calf muscle (fibrofatty replacement of muscle
  3. Gower maneuver
  4. Dilated cardiomyopathy
  5. Waddling gait
42
Q

Duchenne age of onset

A

Before 5

43
Q

Most common cause of death in Duchene

A

Dilated cardiomyopathy

44
Q

Becker dystrophy mutation

A

X-linked point mutation in dystrophyn gene (no frameshift)

45
Q

Becker age of onset

A

Adolescence or early adulthood

46
Q

Duchenne vs becker dystrophy

A

Becker is less severe
Becker has point mutation
Becker onset in adolescence or early adulthood (duchenne before 5)

47
Q

Loss of dystrophin results in……

It can cause …

A

Myonecrosis

Both duchenne and Becker

49
Q

Duchenne diagnosis

A
  1. high CK and aldolase
  2. Western blot
  3. biopsy to confirm
49
Q

Myotonic type 1 muscular dystrophy gene

A

DMPK

50
Q

Myotonic type 1 muscular dystrophies pathophysiology

A

AD –> CTG repeat expansion in the DMPK gene—> abnormal expression of myotonin protein kinase

51
Q

Myotonic type 1 muscular dystrophy symtoms

A
  1. Myotonia 2. Muscle wasting 3. Frontal balding 4. Cataracts 5. Testicular atrophy 6. Arrythmia
52
Q

G6PD mode of inheritance

A

XR

53
Q

Fragile X syndrome major gene

A

FMR1 gene

54
Q

Fragile X pathophysiology

A

X-linked defect affecting methylation and expression of FMR1 gene
Trinucleotide repeat disorder CGG

55
Q

Most common cause of genetic intellectual disability

A

Down syndrome

56
Q

Second most common cause of genetic intellectual disability

A

Fragile syndrome

57
Q

Trinucleotide repeat disorder of fragile x syndrome

A

CGG

58
Q

Fragile X syndrome findings

A
  1. Post pubertal macroorchidism (enlarged testes)
  2. Long face with large jaw
  3. Large everted ears
  4. Autism
  5. Mitral valve prolapse
59
Q

Trinucleotide repeat expansion diseases feature

A

Anticipation: increased severity and decreased age of onset in successive generation

60
Q

Trinucleotide repeat expansion diseases

A
  1. Fragile x syndrome - CGG
  2. Friedreich ataxia - GAA
  3. Huntington - CAG
  4. Myotonic Dystrophy - CTG
61
Q

Trinucleotide repeat expansion diseases

A
  1. Fragile x syndrome - CGG
  2. Friedreich ataxia - GAA
  3. Huntington - CAG
  4. Myotonic Dystrophy - CTG
62
Q

Friedreich ataxia trinucleotide

A

GAA

63
Q

Huntington disease trinucleotide

A

CAG

65
Q

Myotonic dystrophy trinucleotide

A

CTG

66
Q

Recurrent pulmonary infections in CF - bugs(Pseudomonas in adolescence, S. aureus in early infancy )

A

Pseudomonas in adolescence

S. aureus in early infancy

67
Q

Duchenne gait

A

Waddling gait

68
Q

Trinucleotide repeat expansion diseases

A
  1. Fragile x syndrome - CGG
  2. Friedreich ataxia - GAA
  3. Huntington - CAG
  4. Myotonic Dystrophy - CTG

Biochemistry FA (16 decks)

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