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RESP. PATHOLOGY > L3 Inherited Conditions Predisposing to Respiratory Infection > Flashcards

L3 Inherited Conditions Predisposing to Respiratory Infection Flashcards

1
Q

Dynin arms are extending from which subunit to which ?

A

From subunit A of one doublet to subunit B of next doublet

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2
Q

What is the difference between cilia and primary cilia ?

A

The cilia is 9+2
Whereas
The primary cilia is 9+0

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3
Q

What are the Types of cilia in humans ?

A
  1. Motile cilia —
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4
Q

What does the beat cycle of the cilia made of ?

A

Two phases :

  1. Effective stroke
  2. Recovery stroke
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5
Q

What is the features of PCD ?

A
  1. Monogenic
  2. Heterogeneous
  3. Autosomal recessive
  4. 50% of people have kartagener syndrome
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6
Q

What is kartagener syndrome ?

A

It is a triad of :

  • bronchiectasis
  • sinusitis
  • situs inversus
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7
Q

What are The main clinical manifestations of PCD

A
  1. Chronic inflammation of URT and LRT (due to chronic infection)
  2. Insufficient mucociliary clearance —> bronchiectasis
  3. Chronic sinusitis
  4. Chronic otitis media
  5. Male infertility
  6. Female sub-fertility ( can overcome it by in vitro fertilization )
  7. Heterotaxy
  8. Ectopic pregnancy
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8
Q

How PCD can cause heart diseases ?

A

By laterality defects

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9
Q

What are the Laterality defects associated with PCD

A
  1. Situs inversus
  2. Situs ambigous ( heterotaxy )
    Which has two types :
    * left atrial isomerism
    * right atrial isomerism
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10
Q

How you can differentiate between left and right atrial isomerism ?

A

By looking to the spleen :

  • left atrial isomerism
  • polysplenia
  • levocardia ( heart is pointing to the left )
  • right atrial isomerism
  • asplenia
  • dextrocardia ( heart is pointing to the right )
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11
Q

What are the defected genes in PCD ?

A
  1. Structural ( axonemal ) genes :
    - dynein arm components ( DNA5 -DNA11 )
    - radial spokes head ( RSPH9 )
    - dynein - nexin regulatory complexes ( CCDC40 )
  2. Cytoplasmic genes
    - LRRC50
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12
Q

What is DNAH5 gene defect ?

A
  • The most common gene defect of PCD that will lead to the absence of outer dynien arms
  • It will cause infertility and situs inversus
  • ciliary movement will be disorganized and uncoordinated with neighboring cilia
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13
Q

What is cytoplasmic LRRC50 gene defect ?

A
  • it will lead to a defect in the cytoplasmic protein LRRC50 which is responsible on fixing the outer and inner dynein arms … so both arms will be lost
  • no motility or reduced beat amplitude with with few static cilia

( we do produce the arms but we don’t have the ability to fix them )

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14
Q

What is RSPH9 gene defects ?

A
  • It is a defect in the heads of the radial spokes which are responsible on stabilizing the central pair
  • the radial spokes are their but can’t stabilize the central pair
  • movement is stiff with circular motion
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15
Q

What is CCDC40 gene defects ?

A
  • Defect in this gene will produce a defected nexin-dynein regulatory complexes ( proteins ) so both inner dynein arms and nexin are absent leading to micro-tubular disorganization
  • stiff movement with low beat amplitude
  • very severe
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16
Q

What is the DNAH11 gene defect ?

A

It has complete normal structure but it is more stiff, less bending

17
Q

Summarize ciliary movement changes in different gene defects

A

DNAH5 —> disorganized + uncoordinated with neighboring cilia
DNAH11 —> stiff and less bending
RSPH9 —> stiff and circular motion
CCDC40 —> stiff and reduced amplitude
LRRC50 —> complete immotility or low amplitude

18
Q

How we can diagnose PCD ?

A
  1. Ultrastructural changes in PCD: TEM
  2. Nasal Nitric Oxide (NO) measurement: Low in PCD patients
  3. High-speed video microscopy
  4. Immunofluorescent staining (IF) analyses
  5. Genetic testing for PCD
19
Q

What is the defected gene in CF ? Where it is expressed?

A

It cysts fibrosis transmembrane conductance regulator ( CFTR ) gene that is being expressed in :

  • lungs
  • gut
  • pancreas
20
Q

What is the Patho-physiology of CF ?

A

There is defected Cl- secretion and increases sodium absorption that will increase water absorption also leading to increase the viscosity of the mucus and impairing the mucociliary clearance

21
Q

What are the common features between PCD and CF ?

A
  1. Nasal polyps
  2. Chronic sinusitis
  3. Digital clubbing
  4. Chronic otitis media ( 100% in CF and 90-100% in PCD )
  5. FEV1 is less in PCD than in CF

RESP. PATHOLOGY (5 decks)

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