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Gen Path > Section 6 > Flashcards

Section 6 Flashcards

1
Q

Genome

A

Organism’s genetic material

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2
Q

Gene

A

Set of nucleotides

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3
Q

Genes instruct for

A

Protein synthesis

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4
Q

Basic unit of inheritance

A

Gene

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5
Q

Allele

A

Alternative form of gene

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6
Q

Hereditary

A

Transmitted to offspring

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7
Q

Hereditary aka

A

Familial

Genetic

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8
Q

Perinatal

A

Last tri and 1st month after birth

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9
Q

Neonate

A

First 4 weeks

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10
Q

Infant

A

First year after birth

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11
Q

Congenital

A

Present at birth

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12
Q

4 categories of genetic disorders

A
  1. Single gene mutations
  2. Multifactorial inheritance
  3. Chromosomal abnormalities
  4. Atypical inheritance
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13
Q

8% of pediatric hospitalizations

A

Single gene disorders

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14
Q

3 types of single gene disorders

A

Autosomal dominant
Autosomal recessive
X-linked recessive

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15
Q

5 MC autosomal dominant disorders

A
  1. Familial hypercholesterolemia
  2. Polycystic kidney disease
  3. Hereditary spherocytosis
  4. Marfan syndrome
  5. Huntington syndrome
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16
Q

5 MC autosomal recessive disorders

A
  1. Sickle cell anemia
  2. Cystic fibrosis
  3. Tay-Sachs disease
  4. PKU
  5. Glycogen storage Disease
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17
Q

2 MC X-linked diseases

A

Duchesse muscular Dystrophy

Hemophilia A

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18
Q

Autosomal dominate has a ____ onset

A

Delayed

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19
Q

___ can cause spontaneous condition in regards to autosomal dominate disorders

A

Sporadic mutations

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20
Q

Autosomal dominant affects

A

Structural proteins

Membrane receptors

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21
Q

Autosomal dominant can display ____ and ____

A

Reduced penetrance

Variable expressivity

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22
Q

Reduced penetrance

A

Have mutation, but no physical manifestations

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23
Q

Variable expressivity

A

Same mutation expressed differently in individuals

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24
Q

Example of variable expressivity

A

Nevus vs cutaneous neurofibromas

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25
Q

Largest group of Mendelian disorders

A

Autosomal recessive

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26
Q

Autosomal recessive has ___ onset and ____

A

Early

Complete penetrance

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27
Q

Autosomal recessive is rarely

A

Sporadic

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28
Q

Autosomal recessive disrupts enzymes, causing

A

Altered metabolism

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29
Q

X-linked recessive, ___ are asymptomatic carriers and ___ have 50% chance of getting it

A

Females

Males

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30
Q

Multifactorial inheritance

A

Genetic + environmental risks

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31
Q

Marfan syndrome is

A

Autosomal dominant

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32
Q

Marfan syndrome results from mutation in ___ and is ____ familial and ___ sporadic

A

FBN1 mutation (fibrillin 1 gene)

85%

15%

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33
Q

Fibrillin

A

Structural glycoprotein made from fibroblasts

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34
Q

The disorder of fibrillin in marfan results in

A

Irregular CT

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35
Q

Bilateral lens subluxations aka

A

Ectopia lentis

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36
Q

Atlantoaxial instability and basilar invagination is observed in ____ patients with marfan syndome

A

30-50%

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37
Q

Wrist sign observed in Marfans

A

Thumb/index fingers overlap when wrapped around wrist

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38
Q

Steinberg Sign observed in Marfans

A

Adduction of thumb past 5th digit

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39
Q

Protrusio acetabuli observed in Marfans

A

Acetabulum protrudes medially

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40
Q

Thoracolumbar scoliosis observed in Marfans

A

> 20 degrees lateral curve

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41
Q

Dolichocephaly

A

Elongated face

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42
Q

Dural ectasia observed in Marfans

A

Scalloping of dorsal vertebral body due to widening of Spinal canal

60-90% of patients

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43
Q

Symptoms of Marfan’s Syndrome

A
  1. Ectopia lentis
  2. Ruptured aorta
  3. Floppy valve syndrome
  4. Atlantoaxial instability and basilar invagination
  5. Long limbs
  6. Arachnodactyly
  7. Pectus deformities
  8. Wrist sign
  9. Steinberg sign
  10. Protrusio acetabuli
  11. Pes planovalgus
  12. Dolichocephaly
  13. High arched dental palate
  14. Dural ectasia
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44
Q

Ehlers Danlos Syndrome is

A

Autosomal dominant

1/200,000

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45
Q

Ehlers danlos syndrome is a defect in ___, which decreases tensile strength

A

Collagen

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46
Q

Symptoms of ehlers danlos syndrome

A

Hyperextensible skin

Hyper mobile joints

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47
Q

Familial hypercholesterolemia is

A

Autosomal dominant

1/500

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48
Q

Heterozygous familial hypercholesterolemia is a ____ increase in LDL, and has a ___ onset

A

2-3X

Adulthood

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49
Q

Xanthomas

A

Cholesterol deposits on tendons

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50
Q

Homozygous familial hypercholesterolemia is a ___ increase in LDL and has a ___ onset

A

5X

Childhood

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51
Q

More serious, and often lethal, familial hypercholesterolemia

A

Homozygous

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52
Q

Familial hypercholesterolemia is due to a mutated

A

LDLR gene

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53
Q

Mutated LDLR gene causes impaired ___, which increases ____ and ____

A

LDL Transport and catabolism

LDL in plasma

Vascular deposits

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54
Q

Treatment for familial hypercholesterolemia

A

Statins

Lifestyle modifications

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55
Q

Cystic fibrosis is

A

Autosomal recessive

1/3200 Caucasians

56
Q

____ is mutated in CF

A

CFTR gene

57
Q

Mutated CFTR gene causes ____ Transport

A

Low Cl ion transport

58
Q

Low Cl transport can result in

A

Viscous secretions

Salty sweat

59
Q

MC cause of death in CF

A

Cor pulmonale

60
Q

Cor pulmonale

A

R sided heart failure due to lungs

61
Q

___ also common in CF

A

Pancreatic insufficiency

62
Q

Males with CF can be infertile due to

A

Absent vas deferens

63
Q

Chronic lung infections in CF due to

A

Low mucociliary clearance

64
Q

Pancreatic insufficiency in CF due to

A

Ductal obstruction

65
Q

Fibrillin is a component of

A

Microfibrils of ECM

66
Q

Marfan’s syndrome most likely to affect 3 tissue types

A

Osseous skeletal tissue
Eyes
Cardiovascular tissue

67
Q

Floppy valve syndrome MC in

A

Mitral valve

68
Q

MC autosomal dominant Mendelian disorder

A

Familial hypercholesterolemia

69
Q

Risks of familial hypercholesterolemia

A

Premature atherosclerotic plaques
Coronary artery disease
MI risk

70
Q

Ductal obstruction in pancreas from CF prevents ___ resulting in ____

A

Pancreatic zymogens from reaching small intestine

Malabsorption

71
Q

PKU is ____ and how common

A

Autosomal recessive

1/10,000

72
Q

Main problem with PKU

A

Mutated phenylalanine hydroxylase

Can’t metabolize phenylalanine

73
Q

People with PKU have light skin and hair pigmentation due to

A

Lack of tyrosine, which is precursor to melanin

74
Q

Phenylalanine can be ___ if not metabolized

A

Neurotoxic

75
Q

___ of people with PKU never talk, and ___ never walk

A

2/3

1/3

76
Q

Maternal PKU

A

Mother with PKU must modify diet before conception to prevent microcephaly or cardiac malformations since phenylalanine crosses placenta and is teratogenic

77
Q

Benign hyperphenylalanine

A

Modest PKU

No neurological damage

78
Q

Alkaptonuria (AKU) aka

A

Black urine disease

79
Q

AKU is

A

Autosomal recessive

80
Q

AKU is a mutation in

A

Homogentisic oxidase

81
Q

People with AKU have an inability to metabolize ____ and ___, causing ___ to accumulate

A

Tyrosine and phenylalanine

Homogentisic acid

82
Q

Symptoms of AKU

A

Dark urine
Bark blue or black CT
Arthritis in joints
Destruction of heart valves

83
Q

Galactosemia is

A

Autosomal recessive

84
Q

Galactosemia is due to

A

GALT mutation

85
Q

GALT

A

Galactose-1-phosphate-uridyltransferase

86
Q

___ and ___ accumulates in galactosemia

A

Galactose and galactose -1-phosphate

87
Q

Symptoms of galactosemia

A 
Failure to thrive 
Neuronal and liver damage
Cataracts
Vomiting
Diarrhea 
Poor weight gain
88
Q

Treatment for galactosemia

A

Discontinue lactose

Restrict lactose in first 2 years

89
Q

Lysosomal Storage Diseases (LSD) are

A

Autosomal recessive

90
Q

LSDs result in excessive storage of metabolites due to

A

Lack of lysosomal catabolism

91
Q

PKU most common in

A

Scandinavian descent

92
Q

Distinct sign of PKU

A

Musty or mousy urine odor

93
Q

Ochronosis

A

Dark pigments in CT

94
Q

Features of Lysosomal Storage Diseases

A

Early onset
CNS damage
Hepatosplenomegaly
Cellular dysfunction, often fatal

95
Q

Types of LSD

A
  1. Tay- Sachs
  2. Gaucher
  3. Mucopolysaccharidosis
96
Q

Types of mucopolysaccaridosis

A
  1. Hurler

2. Hunter

97
Q

Tay-Sachs has mutated ___, resulting in ___ accumulated in brain/spinal cord

A

Hexosaminidase A enzyme

Gangliosides

98
Q

____ are 1 in 30 carriers for Tay-Sachs

A

Ashkenazi Jews

99
Q

Symptoms of Tay-Sachs

A

Intellectual disability
Flaccidity
Cherry red central macula

100
Q

Treatment for Tay-Sachs

A

NONE

101
Q

Gaucher Disease has mutated ___, resulting in ____ accumulating

A

Glucocerebrosidase gene

Glucocerebrosides

102
Q

Treatment for Gaucher Disease

A

Lifeline enzyme replacement therapy

103
Q

Type 1 Gaucher Disease

A

MC
Less severe
Ashkenazi Jews

104
Q

Type 2 and 3 Gaucher Disease

A

More severe

Neuro disturbances

105
Q

Distinct characteristics of Gaucher Disease

A

Wrinkled tissue paper cytoplasm

Erlenmeyer flask deformity

106
Q

Gaucher Disease
Low RBC = ___
Low WBC = ____
Low platelets = ____

A

Anemia; fatigue

Infections

Bruising

107
Q

Mucopolysaccharidosis (MPS) deficiency in ___, causing ___ to accumulate

A

ECM breakdown enzymes

GAGS

108
Q

Signs of MPS

A 
Intellectual disability 
Gargoylism 
Arterial deposits 
Clouding of cornea 
Hepatosplenomegaly
109
Q

Hurler syndrome inheritance

A

Auto. Recessive

110
Q

Hurler syndrome deficiency

A

Alpha -L-iduronidase

111
Q

Lethal by age 6-10

A

Hurler syndrome

112
Q

Hurler syndrome is ____ severe than hunter syndrome

A

More

113
Q

Hunter syndrome inheritance

A

X-linked

114
Q

Hunter syndrome deficiency

A

L-iduronate sulfatase

115
Q

___ and ___ accumulate in both Hurler and Hunter Syndrome

A

Heparan sulfate

Dermatan sulfate

116
Q

Glycogen storage diseases are due to suppressed ____, causing ___ to accumulate

A

Glycogen catabolism

Glycogen

117
Q

Glycogen storage Disease inheritance

A

Autosomal recessive

118
Q

Types of glycogen storage Disease

A
  1. Von Gierke Disease
  2. McArdle Disease
  3. Pompe disease
119
Q

Von Gierke Disease causes decreased

A

Liver glycolysis

120
Q

Glycogen storage Disease
Von Gierke = ___
McArdle disease = ___

A

Hepatic

Myopathic

121
Q

Deficiency in Von Gierke Disease

A

Glucose 6 phosphatase

122
Q

McArdle Disease deficiency

A

Muscle phosphorylase

123
Q

McArdle Disease can result in

A

Rhabdomyolysis

124
Q

Pompe Disease deficiency

A

Lysosomal acid maltase

125
Q

Pompe Disease lethal by

A

Age 2

126
Q

Rhabdomyolysis

A

Rapid skeletal muscle destruction

127
Q

Signs of rhabdomyolysis

A 
Muscle pain 
Myoglobinuria 
Confusion 
Weakness 
Renal failure
128
Q

Combined frequency of LSD

A

1 in 5,000

129
Q

Type 1 Gaucher Disease aka

A

Chronic neuronopathic form

130
Q

Type ___ is more severe than type ___ (Gaucher Disease)

A

2; 3

131
Q

Gaucher Disease types 2 and 3 at risk for developing

A

Parkinson’s disease

132
Q

Gaucher cells

A

Glucocerebrosides accumulation in macrophages

133
Q

People with Von Gierke Disease predisposed for developing

A

Gout
Xanthomas of skin
Bleeding tendencies

134
Q

Rhabdomyolysis can be due to

A

Trauma

Intense physical exercise

135
Q

MC cause of death in rhabdomyolysis

A

Renal failure due to myoglobin obstructing glomeruli

Gen Path (10 decks)

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