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MOD > IEM and Cystic Fibrosis (10) > Flashcards

IEM and Cystic Fibrosis (10) Flashcards

1
Q

What are Inborn Errors of Metabolism (IEM)?

A

Rare GENETIC defects in metabolism

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2
Q

How are IEM usually inherited?

A

Autosomal Recessive or X-linked

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3
Q

What is the most important way to make a diagnosis of an IEM?

A

High index of suscpicion

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4
Q

In any critically ill neonate that was born healthy that quickly deteriorates, what should you consider?

A

IEM

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5
Q

Does a Negative newborn screening for IEMs exclude the diagnosis?

A

NO

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6
Q

List some overall physical findings with IEM disorders

A

Dysmorphic features - abnormal hair
Abnormal odors
Poor feeding, jaundice
EYE issues

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7
Q

What are 3 common IEMs?

A
  1. Phenylketonuria
  2. Galactosemia
  3. Cystic Fibrosis
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8
Q

What population is PKU (phenylketonuria) more common?

A

Scandinavian and caucasian descent

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9
Q

What enzyme(s) are deficient with PKU?

A
  1. Phenylalanine Hydroxylase

2. Dihydropteridine Reductase (less common)

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10
Q

With PKU what enzyme is deficient and what reaction does not take place?

A

Phenylalanine Hydroxylase

- Phenylalanine is NOT converted to Tyrosine

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11
Q

How is PKU inherited?

A

Autosomal Recessive

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12
Q

What are the main findings with PKU?

A

LOW IQ
Musty odor
Decreased pigmentation of skin and hair
Can’t talk or walk in severe cases

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13
Q

Low IQ, musty odor and decreased pigmentation of skin and hair is seen with what disease?

A

Phenylketonuria (PKU)

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14
Q

What enzyme is deficient with Galactosemia?

A

GALT (galactose-1 phosphate uridyl Transferase)

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15
Q

How is Galactosemia inherited?

A

Autosomal Recessive

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16
Q

What organ systems are normally affected by Galactosemia?

A

Liver
Eyes
Brain

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17
Q

What is deposited (increased) in tissues with galactosemia?

A

Galactose-1 phosphate

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18
Q

With Galactosemia, a few hours after ___ ingestion vomiting and diarrhea present

A

Milk ingestion

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19
Q

Galactosemia deposits Galactose-1 phosphate in the liver, eyes and brain. Describe what happens to those organs.

A

Liver - hepatomegaly
Eyes - cataracts
Brain - decreased IQ

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20
Q

Hepatomegaly, Cataracts and intellectual deficits are linked with what IEM?

A

Galactosemia

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21
Q

Another name for Cystic Fibrosis?

A

Mucoviscidosis

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22
Q

What is the primary population that suffers from cystic fibrosis?

A

CAUCASIANS

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23
Q

Approximately how frequent do caucasians suffer from cystic fibrosis?

A

1/20 are carriers

1/2500 live births

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24
Q

How is Cystic Fibrosis inherited?

A

Autosomal Recessive

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25
Q

What is Cystic Fibrosis?

A

Disorder of ion transport that results in abnormally viscous secretions in the respiratory, GI and reproductive systems

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26
Q

What systems are mainly affected with Cystic Fibrosis?

A

Respiratory
GI
Reproductive

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27
Q

Specifically, what ions is transport disrupted with Cystic Fibrosis?

A

Cl-

HCO3-

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28
Q

What gene is mutated with Cystic Fibrosis?

A

CFTR

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29
Q

On what chromosome is the CFTR gene?

A

7q31.2

30
Q

Where is the most common site for CFTR mutations to take place?

A

Protein misfolding in the ER and Golgi so it never makes it to the cell membrane

31
Q

Describe the setup of the CFTR channel

A

1 R domain
2 Nucleotide binding sites
2 transmembrane domains

32
Q

How is Cl- pumped out of the CFTR channel?

A
  • Agonist (ex. Ach) activates cAMP
  • cAMP activates protein kinase A
  • Protein Kinase A phosphorylates the CFTR channel using ATP and it opens
    = Cl- is let out
33
Q

In all tissues besides the sweat glands, what does the CFTR gene inhibit?

A

Enac

- epithelial sodium channel

34
Q

When the CFTR gene is working normally, describe the sweat glands

A

The CFTR channel allows Cl- to be reabsorbed from the sweat and the EnaC channel allows Na+ to be reabsorbed from the sweat as well.
= Water follows sodium == hypotonic sweat!

35
Q

When the CFTR gene is not working normally, describe the sweat glands

A

The CFTR channel does NOT allow Cl- to be reabsorbed from the sweat and so the EnaC channel follows and does NOT allow Na+ to be reabsorbed.
= Water follows sodium == Hypertonic sweat!
VERY SALTY SWEAT

36
Q

If a mother thinks her child has salty sweat, what could that indicate?

A

Cystic Fibrosis

37
Q

With Cystic fibrosis, sweat glands are morphologically ______

A

UNaffected

38
Q

In what organ does cystic fibrosis affect bicarbonate transport?

A

Pancreas

39
Q

Cystic Fibrosis leads to pancreatic insufficiency how?

A

Decreased bicarbonate secretions

= acidic secretions with low pH

40
Q

With Cystic Fibrosis, the pancreas is secreting acidic material. What does this result in?

A

Plugged ducts that accumulate bacteria

41
Q

Plugged pancreatic ducts that accumulate bacteria ultimately leads to?

A

Decreased fat absorption and decreased Vitamin A!

42
Q

Describe a normally functioning CFTR gene in the airways

A
  • CFTR channel allows Cl- to leave the cell and enter the airway
  • Na+ and water are reabsorbed into the cell
    = Normal mucus created
43
Q

Describe a mutated CFTR gene in the airways

A
  • CFTR channel does NOT allow Cl- to leave the cell
  • TONS of Na+ and water are reabsorbed into the cell
    = DEHYDRATED AND THICK MUCUS created
44
Q

When dehydrated mucus is created in the airways, what are the effects?

A

Decreased mucociliary movements and increased obstruction and pulmonary infections

45
Q

The presence of ______ in the lungs is very common due to the thick secretions in the lungs

A

Pulmonary infections!!

46
Q

Meconium Ileus

A

Thick viscous plugs in small intestines

- seen with Cystic Fibrosis

47
Q

Liver alterations in cystic fibrosis?

A

Steatosis, cirrhosis and obstruction of bile ducts

48
Q

When do liver alterations with cystic fibrosis present in life?

A

Usually later, after puberty

- steatosis, cirrhosis, bile duct obstructions

49
Q

What is the most common cause of death with cystic fibrosis?

A

Pulmonary infections and changes

50
Q

Thick mucus in the lungs leads to?

A
  1. Obstruction

2. Infection

51
Q

Describe the bronchiole changes seen with cystic fibrosis

A

Distended with hypertrophy and hyperplasia of the mucus-secreting cells

52
Q

4 organisms that cause pulmonary infections in cystic fibrosis patients?

A
  1. Staph Aureus
  2. Haemophilus Influenzae
  3. Pseudomonas Aeruginosa
  4. B. Cenocepacia
53
Q

4 organisms that cause pulmonary infections in cystic fibrosis patients?

A
  1. Staph Aureus
  2. Haemophilus Influenzae
  3. Pseudomonas Aeruginosa
  4. B. Cenocepacia
54
Q

What is the worst organism that causes the highest mortality rate with cystic fibrosis pulmonary infections?

A

B. Cenocepacia

55
Q

What is occasionally present in the noses of cystic fibrosis patients?

A

Nasal polyps

56
Q

How does Cystic Fibrosis affect the reproductive system?

A

In males: azoospermia and infertility

* Bilateral absence of vas deferens *

57
Q

With the male reproductive system, what is normally absent with cystic fibrosis?

A

Vas deferens

58
Q

With what pulmonary infection organism, do the lungs appear green with?

A

Pseudomonas Aeruginosa

59
Q

Define SIDS

A

Sudden Infant Death of a less than 1 year old that cannot be explained after reviewing autopsy, death scene and history

60
Q

Define SUID

A

Sudden Unexpected Infant Death due to an anatomic or biochemical finding on autopsy

61
Q

Is SIDS = SUID?

A

NO

62
Q

What is the leading cause of infant death between 1 month and 1 year of age?

A

SIDS

63
Q

When is the peak time for SIDS deaths to occur?

A

Between 2 and 4 months of age

64
Q

What 3 factors can contribute to SIDS

A
  1. Vulnerable infant
  2. In a critical developmental period
  3. Exogenous stressor
65
Q

What populations are more susceptible to SIDS?

A

Black and American Indian

66
Q

It is believed that a vulnerable infant has issues with arousal and respiratory control. What system controls that?

A

Serotonin

67
Q

What is the most common physical exam finding with SIDS?

A

Petechiae on lungs, thymus, heart

68
Q

Maternal ____ is associated with a higher chance of SIDS

A

Smoking

69
Q

What is the order of a hypothesis to how SIDS results?

A
  • respiratory infection
  • decreased activity of laryngeal chemoreceptors
  • increased mucus production
  • child sleeps prone
70
Q

3 risk factors for SIDS?

A
  1. Vulnerable infant
  2. In critical developmental period
  3. Exogenous stressor

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