Genetic and Congenital Disorder Flashcards

1
Q

What are the 4 main stages of prenatal development?

A
  1. Pre-implantation embryonic stage.
  2. Germ layer formation.
  3. Early organogenesis.
  4. Definite organogenesis.
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What is a congenital defect?

A

condition someone is born with.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What are the different types of congenital defects and what are the % they make up?

A
75% - is unknown causes.  
20% - genetic diseases.  
2% - chromosomal abnormalities. 
2% - infections.  
1% - chemicals.
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What is a teratogen?

A

Environmental agent that interrupts the normal development of an organism

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What are the three classifications of exogenous teratogens?

A

1) Physical teratogen
2) Chemical teratogen
3) Microbial teratogen

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Give 3 examples of a physical teratogen?

A

1) x-ray
2) corpuscular radiation(alpha, beta, gamma rays)
3) A bomb.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What type of teratogen is thalidomide and what does it cause?

A

It is a chemical teratogen that lead to babies being born with phocomelia (flipper-like arms or legs).

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

What was thalidomide prescribed for?

A

Preventing morning sickness.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What type of teratogen would viruses, bactria, protozoal parasites be?

A

Microbial teratogens.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What is FASD’s?

A

Fetal alcohol spectrum disorders.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What are some symptoms of FASD’s?

A

1) Small for gestational age
2) Small eye openings
3) Poor coordination
4) Hyperactive behavior
5) Learning disabilities
6) Developmental disabilities (speech and language delays)
7) Low IQ
8) Poor reasoning and judgement skills
9) Sleep and sucking disturbances in infancy.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What is TORCH(ES) syndrome?

A

a medical acronym for a set of perinatal infections (i.e. infections that are passed from a pregnant woman to her fetus).

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

When should we test for TORCH(ES) syndrome?

A

Early in pregnancy.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What will the T in Torches syndrome stand for and how do we get it?

A

Toxoplasma we get it from cat shit so stay away from Julie.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What will the O in TORCHES syndrome stand for?

A

Others that are less common like Epstein-Barr virus, Varicella virus, Listeria monocytogenes, leptospira.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What will the R in TORCHES syndrome stand for?

A

Rubella.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

What will the C in TORCHES syndrome stand for?

A

Cytomegalovirus (CMV).

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

What will the H in TORCHES syndrome stand for?

A

Herpesvirus.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

What will the (ES) in TORCH(ES) syndrome stand for?

A

Syphylis.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

What does rubella cause?

A

1) Small (microcephaly)/strucuraly abnormal brain

2) Heart defects.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

What will Toxoplasma cause?

A

1) Microcalcification of basal ganglia and dilation of lateral ventricles (hydrocephalus)
2) CNS defects.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

What will cytomegalovirus (CMV) cause?

A

The same as Toxoplasma.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

What will herpesvirus affect?

A

1) CNS defects

2) Skin lesions.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

What are 2 types of chromosomal anomalies?

A

Structural and numerical anomalies

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

What is Aneuploidy?

A

Loss or gain of chromosomes.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

What are 2 types of aneuploidy?

A

Hyperdiploidy- 46+1 or 46+2.

Hypodiploidy- 46-1 or 46-2.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

What is monosomy?

A

Missing one chromosome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

What is Trisomy?

A

Gaining an extra chromosome (3 of one chromosome)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

What is the most common risk factor for Down syndrome?

A

Paternal age increases risk of having a baby born with down syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

What disorder is associated with Down syndrome?

A

Trisomy 21 (D= drinking age 21)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

What disorder is associated with Edward’s syndrome?

A

Trisomy 18 (E = election age 18)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

What disorder is associated with Patau’s syndrome?

A

Trisomy 13 (P = puberty age 13)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

Of the 3 disorders Down, Edward’s and Patau’s, which one is most common?

A

Down Syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

What happens to a baby’s hands with down syndrome?

A

Simian crease.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

Down syndrome or trisomy 21 leads to what mental issues?

A

Most commonly leads to mental retardation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

How will down syndrome affect the head?

A

Flat facial profile and epicanthic folds

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

How will down syndrome affect the heart?

A

Congenital heart defects like septum primum due to endocardial cushion defects.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

How will down syndrome affect the limbs and feet?

A

Hypotonia

A gap between first 2 toes.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
39
Q

What is the life expectancy with edwards sydnrome aka trisomy 18?

A

less than 1 year.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
40
Q

What will edwards syndrome cause?

A

Severe mental retardation.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
41
Q

How will edwards syndrome affect the head?

A

1) Prominent occiput
2) micrognathia (small jaw)
3) low set ears.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
42
Q

How will Down syndrome affect the umbilicus and intestines?

A

Causes umbilical hernia and intestinal stenosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
43
Q

What is the incidence of down syndrome?

A

1 in 700 births

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
44
Q

How will edwards syndrome affect the heart?

A

Congenital heart defects will be present.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
45
Q

How will edwards syndrome affect the hands and feet?

A

Hands- Clenched hands

Feet- Rocker-bottom feet.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
46
Q

What is the life expectancy with down syndrome?

A

45-50 years old

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
47
Q

What is the incidence of Edward’s syndrome?

A

1 in every 8000 births

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
48
Q

What some limb changes with Edward’s symptoms

A

Limited hip abduction

Rocker bottom feet

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
49
Q

What is the incidence of Edward’s syndrome?

A

1 in 8000

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
50
Q

What are some neurological issues with patau symptoms?

A

Microcephaly and mental retardation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
51
Q

What are some head changes with patau symptoms?

A

Cleft lip and palate

Microphthalmia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
52
Q

What are some limb issues with patau symptoms?

A

1) Polydactylyl

2) Focker -bottom feel

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
53
Q

What is the incidence of Patau syndrome?

A

1 in 15000

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
54
Q

What is the life expectancy of Down syndrome?

A

45-50

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
55
Q

What is the life expectancy of Edwards syndrome?

A

<1 year

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
56
Q

What is the life expectancy of Patau syndrome?

A

<1 year

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
57
Q

In which disorder(s), (Downs, Edwards, Patau) does mental retardation occur?

A

Yes, severe in Edwards and Patau

and the most common cause is Down Syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
58
Q

What are some other disease risks for Down Syndrome?

A

ALL, Alzheimer’s >age 35

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
59
Q

What are two disorders that are caused by abnormalities of sex chromosomes?

A

1) Turner syndrome

2) Klinefelter syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
60
Q

Who can get turner’s syndrome and who can get Klinefelter’s syndrome?

A

They are abnormalities of sex chromosomes so only females can get Turners and Only males can get Klinefelter’s syndrome.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
61
Q

Pathogenesis of sex chromosome abnormalities are due to what?

A

Nondisjunction.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
62
Q

What is nondisjunction?

A

Failure of paired chromosome to separate.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
63
Q

How common is Turners syndrome?

A

1 in every 3,000 female births.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
64
Q

What are the symptoms of Turners syndrome? (It’s super long, sorry)

A

1) Short stature
2) heart- shaped face
3) low posterior hairline
4) webbing of neck
5) heart disease and coarctation of aorta
6) broad chest and widely spaced nipples
7) pigmented nevi (moles)
8) cubitus valgus(elbows turned in)
9) streak ovaries, hypoplastic uterus, amenorrhea
10) peripheral lymphedema at birth.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
65
Q

Are Turner’s considered male or female?

A

Female presentation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
66
Q

What symptoms will Klinefelter’s syndrome present with?

A

1) Tall long arms and legs
2) lack of beard body hair and pubic hair
3) gynecomastia
4) female like hips
5) testicular atrophy.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
67
Q

Is Klinefelter syndrome considered male or female?

A

Male presentation (based on penis presentation)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
68
Q

What is mendelian inheritance?

A

a set of primary principles relating to the transmission of hereditary characteristics from parent organisms to their offspring

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
69
Q

What is heterozygotes and homozygotes?

A

Hetero - a particular gene pair will be different. Homo - the gene pair will be the same.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
70
Q

What are alleles?

A

Genes expressed in duplicate

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
71
Q

What is the difference between autosomal dominant and autosomal recessive?

A

1) Recessive- a genetic condition that only appears in people that have both pairs of an autosomal(a non sex chromosome) gene.
2) Dominant- A genetic condition that appears in people that have 1 normal gene and 1 autosomal gene.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
72
Q

What is mitochondrial inheritance?

A

The inheritance of a trait encoded in the mitochondrial genome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
73
Q

With an autosomal dominant inheritance will the trait be apparent in heterozygotes?

A

yes.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
74
Q

In many cases when will mendelian inheritance present clinically?

A

After puberty.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
75
Q

What is critical in diagnosing a mendelian inheritance?

A

Family history.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
76
Q

What % will an affected heterozygote (autosomal dominant) have of transmitting the gene to offspring?

A

50%.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
77
Q

What % will an affected homozygote (autosomal dominant) have of transmitting the gene to offspring?

A

100%.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
78
Q

What % of children from parents who are both heterozygote (autosomal dominant). will be affected?

A

1) 25% will be homozygote.
2) 50% will be heterozygote,
3) 25% will be uneffected.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
79
Q

What is an autosomal dominant disease that affectes connective Tissue?

A

Marfan’s Syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
80
Q

What is the clinical presentation of someone with Marfan’s syndrome?

A

1) Elongated hands
2) eye abnormalities
3) aortic aneurysm
4) floppy mitral valve
5) vertebral deformity
6) Long fingers (arachnodactyly)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
81
Q

How is Marfan’s syndrome inherited?

A

It is an autosomal dominant inheritance.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
82
Q

Marfan’s syndrome is a molecular defect of what?

A

mutation in the gene encoding the glycoprotein Fibrillin-1 (FBN1).

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
83
Q

What is FBN1 involved in?

A

Main componenet of microfibrils and helps anchor cells to the ECM therefore causes connective tissue anomalies when absent

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
84
Q

With marfan’s syndrome what are the principle structures that are defective?

A

Cardiovascular, musculoskeletal, ocular.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
85
Q

Besides the CV, MS and ocular areas, what else is effected by marfan’s syndrome?

A

Pulmonary and CNS.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
86
Q

Marfan’s syndrome is typically recognized by what?

A

Long limbs, aortic root dilation and dislocated lenses.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
87
Q

What happens with teenagers who have marfan’s syndrome?

A

kyphoscoliosis, pectus excavatum, genu recurvatum (knee has > 5 degree extension)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
88
Q

Achondroplastic dwarfism is what?

A

An autosomal dominant inherited bone disease.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
89
Q

Which is the most common type of dwarfism and what are the signs and symptoms?

A

Achondroplastic dwarfism (AKA Jim Dietrich Disorder) is the most common and it presents with:

1) Bulky forehead
2) saddle nose
3) lumbar lordosis
4) bowlegs.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
90
Q

What is the defective gene product that causes achondroplastic Dwarfism?

A

Fibroblast growth factor (FGF) receptor 3

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
91
Q

What kind of disorder is Osteogenesis imperfecta ?

A

A hereditary collagen disorder

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
92
Q

What clinical presentation does he collagen disorder of osteogenesis imperfecta present with?

A

1) abnormal fragility of bone
2) hearing loss, blue sclerae (seen with all collagen disorders)
3) dentinogenesis imperfecta
4) joint hypermobility.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
93
Q

How many types of osteogenesis imperfecta are there?

A

I-IV.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
94
Q

What types of osteogenesis imperfecta are caused by autosomal dominant inheritance and what cause the other types?

A

1) I and IV are autosomal dominant.

2) II and III are autosomal recessive.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
95
Q

How common is Hearing loss with osteogenesis imperfecta?

A

50-65%.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
96
Q

Of the 4 types of osteogenesis imperfecta rank them from mildest to most severe?

A

I-mildest < IV- intermediate in severity < III- most severe nonlethal form < II- most severe and lethal.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
97
Q

What clinical presentations are found with Type I osteogenesis imperfecta?

A

1) Blue sclera (d/t a deficiency in CT allowing underlying vessels to show through)
2) joint hypermobility leading to musculoskeletal pain
3) recurrent fractures in childhood are possible.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
98
Q

What clinical presentations are found with Type II osteogenesis imperfecta?

A

1) Blue sclera
2) shortened extremities due to multiple congenital fractures
3) skull is soft and feels like a bag of bones
4) Trauma during delivery may cause intracranial hemorrhage and stillbirths.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
99
Q

What clinical presentations are found with Type III osteogenesis imperfecta?

A

1) Short stature
2) spinal curvature and multiple
3) recurrent fractures
4) Macrocephaly with triagular facies
5) pectal deformities are common
6) hearing loss is possible

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
100
Q

What clinical presentations are found with Type IV osteogenesis imperfecta?

A

1) Bones fracture easy in childhood before adolescence
2) Sclera normal color
3) moderate-short height.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
101
Q

What type of Osteogenesis imperfecta may benefit from treatment?

A

Type IV.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
102
Q

What is the survival rate like with osteogenesis imperfecta type IV?

A

survival rate is high.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
103
Q

With osteogenesis imperfecta which adult arm bones were defective in the x-ray he showed us?

A

Radius and ulna.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
104
Q

Blue sclera is associated with osteogenesis why?

A

Blue sclera is associated with connective tissue disorders and osteogenesis imperfecta is a collagen disorder.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
105
Q

Blue disoloration of the sclera happens when?

A

thinning of the sclera allows the underlying choroid to become visible.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
106
Q

What is elevated with familial hypercholesterolemia?

A

LDL.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
107
Q

Why will LDL be elevated with familial hypercholesterolemia?

A

Defective or absent LDL receptor.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
108
Q

What will cholesterol levels of heterozygote and homozygote familial hypercholesterolemia patients have?

A

1) Hetero- 300mg/dl.

2) Homo-700+ mg/dl.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
109
Q

Homozygotes with familial hypercholesterolemia develop what in early life?

A

Tendon xanthomas (tumor of lipid foam cells) classically seen in the achilles tendon.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
110
Q

What may develop with homozygotes with familial hypercholesterolemia by age 20?

A

MI.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
111
Q

What is the Liver’s role with LDL?

A

It is involved with synthesis and clearance.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
112
Q

There are 5 different classes of LDL receptor mutations and all of them are what?

A

Heterogeneous at the DNA level.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
113
Q

What should be taken to help with familial hypercholesterolemia and what are its 2 names?

A

Nicotinic acid aka Vitamin B3.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
114
Q

What effects will nicotinic acid and Vitamin B3 have on hypercholesterolemia?

A

Increases HDL and lowers TG and LDL.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
115
Q

What are the adverse effects of nicotinic acid (vitamin B3)?

A

1) Flushing
2) impaired glucose tolerance
3) increased uric acid.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
116
Q

What can be given with nicotinic acid to help with adverse effects?

A

Aspirin and given with food.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
117
Q

What type of diet can help lower cholesterol and how?

A

High fiber by binding to cholesterol before it can be reabsorbed in the liver.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
118
Q

What type of drugs are given to help lower cholesterol?

A

Statins.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
119
Q

What is PKD?

A

Polycystic kidney disease it is an autosomal dominant or recessive disease that affects the kidney.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
120
Q

What are the 2 forms of PKD and what causes them?

A

Adult- autosomal dominant.

Juvenile- autosomal recessive.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
121
Q

How common is the adult form or Autosomal dominant PKD?

A

1/1000 people.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
122
Q

Autosomal dominant PKD accounts for what % of patients with end-stage renal disease requiring replacement therapy?

A

5-10%.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
123
Q

Clinical manifestations of PKD happen when?

A

Rare before adulthood, but essentially all patients by 80 years of age or older.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
124
Q

How common is autosomal recessive PKD or the child form?

A

1/10,000 people.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
125
Q

PKD is associated with what?

A

Polycystic liver disease, berry aneurysms mitral valve prolapse.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
126
Q

What are berry aneurysms?

A

A small saccular aneurysm of a cerebral artery that resembles a berry.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
127
Q

86-96% of ADPKD (autosomal dominant PKD) cases are caused by what?

A

mutations in the PKD1 gene on chromosome 16.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
128
Q

What will the PKD1 gene on chromosome 16 code for?

A

Polycystin 1 protein.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
129
Q

What other things can cause ADPKD besides mutations of the PKD1 gene on chromosome 16?

A

PKD2 gene on chromosome 4.

130
Q

What will the PKD2 gene on chromosome 4 code for?

A

Polycystine 2 protein.

131
Q

What will polycystin 1 and polycystin 2 do?

A

1) epithelial cell adhesion and differentiation

2) function as anion channel.

132
Q

Mutations of the polycystin proteins leads to what?

A

Renal cilia function alterations.

133
Q

What will altered renal cilia lead to?

A

Flow rate issues that lead to cystic transformation.

134
Q

What is the prognosis of PKD?

A

by age 75 50-75% of patients will need a renal replacement therapy (dialysis or transplantation).

135
Q

What are the treatments for PKD?

A

Strict BP control and limits to protein intake of .6-.7 g/kg/day.

136
Q

Can PKD happen on just one side?

A

No it is bilateral always.

137
Q

What type of disorder is spherocytosis?

A

A congenital RBC membrane disorder. IT is an autosomal dominant disease.

138
Q

What are 3 possible symptoms of spherocytosis?

A

anemia, jaundice, splenomegaly.

139
Q

How is spherocytosis diagnosed?

A

requires demonstration of increased RBC osmotic fragility and negative direct antiglobulin test.

140
Q

How often will spherocytosis patients less than 45 years old need a splenectomy?

A

Rarely.

141
Q

With spherocytosis what causes RBC abnormalities?

A

Alterations in membrane proteins.

142
Q

What alternations in membrane proteins of RBC happens with spherocytosis?

A

Surface area is decreased disproportionately to the intracellular content.

143
Q

What will decreased surface area of a RBC membrane cause?

A

Flexibility needed for the cell to traverse the spleen’s microcirulation.

144
Q

With western treatments how will spherocytosis be cured?

A

Splenectomy.

145
Q

Presence of spherocytes in the peripheral blood smear suggest what?

A
  1. Hereditary spherocytosis (HS).

2. Autoimmune hemolytic anemia (AIHA).

146
Q

When there are spherocytes in the peripheral blood smear how can you distinguish between hereditary spherocytosis or autoimmune hemolytic anemia?

A

Coomb’s test.

147
Q

What will a negative and positive Coomb’s test mean?

A

Negative- Hereditary spherocytosis.

Positive- Autoimmune hemolytic anemia.

148
Q

Huntington’s disease is what type of disorder?

A

An autosomal dominant characterized by chorea and progressive cognitive deterioration.

149
Q

How will Huntington’s disease be diagnosed?

A

Genetic testing.

150
Q

What is treatment of Huntington’s disease like?

A

Supportative.

151
Q

What type of relatives of patients with Huntington’s disease should be tested?

A

first-degree relatives.

152
Q

Will Huntington’s disease effect males or females more?

A

Both equal.

153
Q

What parts of the CNS will Huntington’s disease effect?

A

Caudate nucleus atrophies, medium spiny neurons in the corpus striatum degenerate, and levels of neurotransmitters gamma aminobutyric acid and substance P decrease.

154
Q

What genes are effected with Huntington’s disease?

A

Gene on chromosome 4.

155
Q

The gene on chromosome 4 (Huntington’s disease) will lead to what?

A

Abnormal repetition of DNA sequence CAG that codes for amino acid Glutamine.

156
Q

The gene product of abnormal CAG codes that make glutamine leads to what?

A

a large protein called huntingtin and it has large stretches of polyglitamine residue.

157
Q

How will the huntingtin protein lead to huntington’s disease?

A

Unknown.

158
Q

The more CAG repetitions means what?

A

The earlier the disease begins and the more severe the effects.

159
Q

What will huntington’s disease be like from generation to generation?

A

over time it leads to more severe phenotype and more CAG codes that make more polyglitamine residues.

160
Q

How do Symptoms of Huntington’s disease develop?

A

Insidiously (inconspicuous or seemingly harmless way ).

161
Q

When do Signs and symptoms of Huntington’s disease develop?

A

start between 35-50, but can develop before adulthood.

162
Q

What are the signs and symptoms of Huntington’s disease?

A

Dementia or psychiatric disturbances, abnormal movements including tongue protrusion.

163
Q

Death usually occurs how long after the first signs and symptoms of Huntington’s disease appear?

A

13-15 years.

164
Q

What will the cause of death usually be with Huntington’s disease?

A

Coronary heart disease or pneumonia

165
Q

What are the Trinucleotide repeat expansion diseases?

A

1) Huntington’s
2) Myotonic dystrophy
3) Friedreich’s ataxia
4) Fragile X syndrome.

166
Q

With trinucleotide repeat expansion diseases what can be anticipated?

A

In each successive generation the disease severity increases and age of onset decreases. This is known as genetic anticipation.

167
Q

What is Autosomal recessive inheritance of trinucleotide repeat expansion diseases often due to?

A

Enzyme deficiencies.

168
Q

In how many generations are Autosomal recessive inheritances of trinucleotide repeat expansion diseases often seen?

A

only 1 generation.

169
Q

What is more severe autosomal recessive inheritance or autosomal dominant inheritance for trinucleotide repeat expansion diseases?

A

Recessive.

170
Q

When do Autosomal recessive inheritance of trinucleotide repeat expansion disease patients present with disease?

A

Childhood.

171
Q

Name 2 amino acid disorders that are autosomal recessive inherited trinucleotide repeat expansion disease?

A

phenylkeonuria, and albinism.

172
Q

Name 2 anemias that are autosomal recessive inherited trinucleotide repeat expansion disease?

A

thalassemias, sickle cell anemia.

173
Q

What is the most common and leathal genetic disease of caucasians?

A

Cystic Fbrosis.

174
Q

What are the different types of autosomal recessive disorders?

A

1) Cystic fibrosis
2) Amino acid disorders
3) Anemias
4) Hemochromatosis
5) alpha1 - antitrypsin deficiency
6) glycogen storage diseases
7) Lysosomal storage diseases
8) Infant polycystic kidney diseases

175
Q

What gene is effected with cystic fibrosis?

A

Autosomal -recessive defect in CFTR gene on chromosome 7.

176
Q

What will the CFTR gene on chromosome 7 do?

A

Creates a CFTR channel that actively secretes Cl- from the lungs and GI tract and it actively reabsorbs cl- from sweat.

177
Q

Why will cystic fibrosis cause infertility in males?

A

bilateral absence of vas deferens.

178
Q

Why will cystic fibrosis present as a failure to thrive in infancy?

A

Fat-soluble vitamin (ADEK) deficiencies.

179
Q

What is the treatment of cystic fibrosis?

A

N-acetylcysteine.

180
Q

What will N-acetylcysteine do?

A

Loosen mucous plugs.

181
Q

Name a way to determine if someone has cystic fibrosis?

A

Positive sweat test.

182
Q

With cystic fibrosis we get abnormal chloride transport that leads to what?

A

Viscous mucus.

183
Q

Viscous mucus affects what 3 areas?

A

Pancreas, fetal intestines, Bronchi.

184
Q

How will viscous mucus affect the pancreas?

A

Malabsorption -> malnutrition -> Can lead to death.

185
Q

How will viscous mucus affect the fetal intestines?

A

Merconium ileu -> merconium pertonites -> Leads to death.

186
Q

How will viscous mucus affect the bronchi?

A

Bronchitis -> bronchetasis -> recurrent pneumonia -> death.

187
Q

What is tested for in the sweat test?

A

High concentration of Cl- ions.

188
Q

What is the pathogenesis of cystic fibrosis?

A

Defective Cl- channel -> secretion of abnormally thick mucus that lugs lungs, pancreas and liver -> recurrent pulmonary infections, chronic bronchitis, bronchiectasis, pancreatic insufficiency and meconium ileus in newborns

189
Q

Cystic fibrosis has an affected CFTR gene on chromosome 7 that results in a protein that is missing what?

A

amino acid 508(phenylalanine).

190
Q

Will there be a frameshift with the cystic fibrosis disease?

A

No because the deletion was 3 so no frameshift mutation occurs.

191
Q

Who does sickle cell anemia chronic hemolytic anemia occurs almost exclusively to?

A

Blacks.

192
Q

Sickle cell anemia is caused by what?

A

homozygous inheritance of Hb S.

193
Q

What do Sickle-shaped RBC that clog capillaries cause?

A

Organ ischemia.

194
Q

What type of pain may develop with sickle cell anemia?

A

Acute pain may develop frequently.

195
Q

How will sickle-cell anemia be fatal?

A

Infection, bone marrow aplasia, or lung involvment.

196
Q

What makes Hb S different and a problem in sickle-cell anemia?

A

Valine is substittuted for Glutamic acid in the 6th amino acid of the beta chain.

197
Q

What causes RBC’s to deform with sickle cell anemia?

A

oxygenated Hb S is less soluble than oxygenated Hb A. So oxygenated Hb S forms a semisolid gel that causes RBC to deform in a sickle chape at sites of low P02

198
Q

What do distorted RBCs do?

A

Adhere to vascular endothelium and plug small arterioles and capillaries leading to infarction.

199
Q

What will deform bones with sickle-cell anemia?

A

chronic compensatory marrow hyperactivity.

200
Q

What type of mutation takes place with sickle-cell anemia?

A

A point mutation.

201
Q

what type of disease is sickle-cell anemia?

A

Autosomal recessive inheritance.

202
Q

What causes Lysosomal storage diseases?

A

An autosomal recessive disorder where one or more of the enzymes needed to degraded something in a lysosome is absent leaving a soluble end product.

203
Q

What happens if there is a deficiency of just one of the lysosomal enzymes?

A

Catabolism is incomplete and insoluble intermediates accumulate in the lysosomes.

204
Q

Name 2 lysosomal diseases that are not Autosomal recessive inheritance?

A

Fabry’s and hunter’s disease.

205
Q

What lysosomal storage disease can be characterized by progressive neurodegeneration, hepatosplenomegaly, Cherry-red spots foam cells?

A

Niemann-pick disease.

206
Q

What is the deficient enzyme with niemann-picks disease?

A

Sphingomyelinase.

207
Q

What substrate is accumulated with niemann-picks disease?

A

Sphingomyelin.

208
Q

What is Tay-sachs disease characterized by?

A

Progressive neurodegeneration, developmental delay, cherry-red spot, lysosomes with onion skin.

209
Q

What is the deficient enzyme with tay-sachs disease?

A

Hexosaminidase A.

210
Q

What substrate is accumulated with Tay-sachs disease?

A

GM2 ganglioside.

211
Q

What is the most common lysosomal storage disease?

A

Gaucher’s disease.

212
Q

What are the characteristics of Gaucher’s disease?

A

Hepatsplenomegaly, asecptic necrosis of femur, bone crises, Gaucher’s cells look like crumpled tissue paper.

213
Q

What is the deficient enzyme with Gaucher’s disease?

A

Beta-glucocerebrosidase.

214
Q

What is the substrate that accumulates with Gauchers disease?

A

Glucocerebroside.

215
Q

What are the characteristics of Fabry’s disease?

A

Peripheral neuropathy of hands/feet, angiokeratomas, cardiovascular/renal disease

216
Q

What is the deficient enzyme with Fabry’s disease?

A

alpha-galactosidase A

217
Q

What is the substrate that accumulates with Fabry’s disease?

A

Ceramide trihexoside

218
Q

What are the characteristics of Krabbe’s disease?

A

Periheral neuropathy, developmental delay, optic atrophy, globoid cells

219
Q

What is the deficient enzyme with Krabbe’s disease?

A

Galactocerebrosidase

220
Q

What is the substrate that accumulates with Krabbe’s disease?

A

Galactocerebroside

221
Q

What are the characteristics of metachromatic leukodystrophy?

A

Central and peripheral demyelination with ataxia, dementia

222
Q

What is the deficient enzyme with metachromatic leukodystrophy?

A

Arylslfatase A

223
Q

What is the substrate that accumulates with metachromatic leukodystrophy?

A

Cerebroside sulfate

224
Q

What are the characteristics of Hurler’s syndrome?

A

Developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly

225
Q

What is the deficient enzyme with Hurler’s syndrome?

A

alpha-L-iduromidase

226
Q

What is the substrate that accumulates with Hurler’s syndrome?

A

Heparan sulfate, dermatan sulfate

227
Q

What are the characteristics of Hunter’s syndrome?

A

Mild Hurler’s and aggressive behavior, no corneal clouding

228
Q

What is the deficient enzyme with Hunter’s syndrome?

A

Iduronate sulfatase

229
Q

What is the substrate that accumulates with Hurler’s syndrome?

A

Heparan sulfate, dermatan sulfate

230
Q

What lysosomal storage disease has concentric rings of the membrane?

A

Tay-sachs disease.

231
Q

What type of mutation is Tay-sachs disease and who will it affect?

A

Frameshift mutation, Ashkenazi jews.

232
Q

What organ is Niemann-Picks disease found in?

A

The liver.

233
Q

What liver cells are affectd by niemann-picks disease? How are they affected?

A

Hepatocytes and Kupffer cells have a foamy vacuolated appearance owing to deposition of lipids.

234
Q

What is PKU and it is most common among who?

A

Phenylketonuria, most common in all white people, and relatively less common among ashkenazi jews, chinese, and blacks.

235
Q

How common is PKU among whites?

A

1/10,000 births.

236
Q

PKU will have excess dietary phenylalanine that will do what?

A

Be converted to tyrosine.

237
Q

What will convert phenylalanine into tyrosine?

A

Phenylalanine hydroxylase.

238
Q

What is the essential cofactor for phenylalanine hydroxylase to convert phenylalanine into tyrosine?

A

Tetrahydropbiopterine (BH4).

239
Q

What causes PKU?

A

When one of the several gene mutations results in deficiency or absence of phenylalanine hydroxylase.

240
Q

With a deficiency or absence of phenylalanine hydroxylase large amounts of phenylalanine accumulate and cause what?

A

accumulations in the brain, and some is metabolized into phenylketones and are excreted in the urine.

241
Q

What are the clinical symptoms of PKU?

A

Mental retardation with cognitive and behavioral abnormalites. Also growth retardation, fair skin, eczema, and musty body odor.

242
Q

The primary cause of PKU is a deficient phenylalanine hydroxylase, but what is another cause of PKU?

A

Decreased tetrahydrobiopterine the cofactor.

243
Q

When and how will PKU be tested?

A

At birth they check for high phenylalanine levels and normal or low tyrosine levels.

244
Q

What will cause the musty body odor associated with PKU?

A

The abnormal metabolism of a AROMATIC amino acid.

245
Q

What is the treatment for PKU?

A

Lifelong dietary phenylalanine restriction, and increased tyrosine in diet.

246
Q

What is the prognosis of PKU with treatment?

A

Excellent.

247
Q

How are glycogen storage diseases acquired?

A

They are autosomal recessive disorders.

248
Q

What is the myocardium like with pompe’s disease?

A

Normal with abundent eosinophilic cytoplasm.

249
Q

What is a X-linked recessive disorder?

A

A genetic disorder of the X chromosome.

250
Q

Sons of heterozygous mothers have what chance of being affected with an X-linked recessive disorder?

A

50%

251
Q

Sons of heterozygous fathers have what chance of being affected with an X-linked recessive disorder?

A

None

252
Q

X-linked recessive disorders affect females or males more?

A

Males.

253
Q

What is the acronym for remembering the X-linked recessive disorders?

A

Be WIse, FooL’s GOLD Heeds False Hope.

254
Q

What are the findings with von gierke’s disease?

A

Severe fastng hypoglycemia, Increased glycogen in liver, increased blood lactate, and hepatomegaly.

255
Q

What are the findings with pompe’s disease?

A

Cardiomegaly and systemic findings leading to early death.

256
Q

What are the findings with cori’s disease?

A

Milder than type I aka con gierke’s disease. The blood lacate levels are normal, and gluconeogenesis is intact.

257
Q

What are the findings with McArdles disease?

A

Increased glycogen in muscles, but can’t break it down, leading to painful muscle cramps.

258
Q

In which gender are x-linked recessive disorders more severe?

A

Males

259
Q

With x-linked recessive disorders, would heterozygous or homozygous females be affected? Which will express the phenotype?

A

Heterozygous females = may be affected

Homozygous females = express phenotype

260
Q

What does the B in the acronym (Be Wise, FooL’s GOLD Heeds False Hope) stand for?

A

Bruton’s agammaglobulinemia (congenital immunodeficiency)

261
Q

What does the W in the acronym (Be WIse, FooL’s GOLD Heeds False Hope) stand for?

A

Wiskott-aldrich syndrome

262
Q

What does the I in the acronym (Be WIse, FooL’s GOLD Heeds False Hope) stand for?

A

Immunodeficiency (X-SCID)

263
Q

What does the F in the acronym (Be WIse, FooL’s GOLD Heeds False Hope) stand for?

A

Fragile X syndrome.

264
Q

What does the first L in the acronym (Be WIse, FooL’s GOLD Heeds False Hope) stand for?

A

Lymphoproliferative disorders (Duncan’s syndrome)

265
Q

What does the G in the acronym (Be WIse, FooL’s GOLD Heeds False Hope) stand for?

A

G6PD deficiency

266
Q

What does the O in the acronym (Be WIse, FooL’s GOLD Heeds False Hope) stand for?

A

Ocular albinism

267
Q

What does the 2nd L in the acronym (Be WIse, FooL’s GOLD Heeds False Hope) stand for?

A

Lesch-Nyhan syndrome

268
Q

What does the D in the acronym (Be WIse, FooL’s GOLD Heeds False Hope) stand for?

A

Dystrophies: (Duchenne’s and Becker’s muscular dystrohy)

269
Q

What does the first H in the acronym (Be WIse, FooL’s GOLD Heeds False Hope) stand for?

A

Hemophilia A and B

270
Q

What does the F in the acronym (Be WIse, FooL’s GOLD Heeds False Hope) stand for?

A

Fabry’s disease

271
Q

What does the 2nd H in the acronym (Be WIse, FooL’s GOLD Heeds False Hope) stand for?

A

Hunter’s syndrome

272
Q

What will fragile X syndrome affect?

A

Methylation and expression of the FMR1 gene.

273
Q

What is Fragile X statistically known for?

A

The most common mental retardation in males and second overall genetic retardation after Downs.

274
Q

Fragile X will clinically present as what?

A

Macro-orchidism, long face with large jaw, large everted ears, autism.

275
Q

What usually happens to females that get X-linked recessive disorders?

A

They are usually silent carriers.

276
Q

What % of females that inherit the full mutation of an X-linked recessive disorder are affected?

A

50% and the effect is mild.

277
Q

What causes glucose-6-phosphate dehydrogenase deficiency?

A

X-linked recessive disorder.

278
Q

A glucose-6-phosphate dehydrogenase deficiency is most common among who and it will cause what?

A

Among Black and it increases the resistance to malaria.

279
Q

Glucose-6-phosphate dehydrogenase deficiency besides resistance to malaria will cause what to happen?

A

The glucose-6-phosphate dehydrogenase enzyme is the rate limiting enzyme in the HMP Shunt, and not having enough of this enzyme leads to decreased NADPH in RBC and this leads to HEMOLYTIC ANEMIA (which is anemia due to destruction of erythrocytes).

280
Q

Glucose-6-phosphate dehydrogenase deficiency leads to altered hemoglobin precipitates within RBC and these precipitates of Hemoglobin are known as what?

A

Heinz bodies.

281
Q

With Glucose-6-phosphate dehydrogenase deficiency phagocytes remove the heinz bodies and make the RBC look different and they are known as what?

A

Bite cells.

282
Q

What is SCID?

A

Severe combined immunodeficiency.

283
Q

What is SCID also known as?

A

Boy in the Bubble syndrome.

284
Q

SCID is most common among who?

A

Navajo populations.

285
Q

What will SCID do to the body?

A

Due to one of several gene defects both B and T cell division of adaptive immune system are non-functional.

286
Q

What is the most common gene defect that causes SCID?

A

X-linked severe combined immunodeficiency (X-SCID).

287
Q

What is the second most common gene defect that causes SCID?

A

Adenosine deaminase deficiency.

288
Q

X-SCID has what defected gene?

A

IL2 receptor on the X chromosome because it is an X chromosome disorder.

289
Q

What will the IL2 gene do?

A

Promotes lymphocyte growth and differentiation.

290
Q

X-SCID is usually fatal after how long?

A

firsts years of life.

291
Q

X-SCID can cause candidiasis which is what and it is associated with what?

A

an infection caused by fungus that affects the skin, mouth, respiratory tract, and vagina. It is associated with AIDS a lot of the time.

292
Q

Lesch-Nyhan syndrome is caused by what?

A

A purine salvage deficiency. It is an X-linked recessive disorder.

293
Q

Lesch-nyhan syndrom has a purine salvage deficiency that leads to what?

A

Excess uric acid production.

294
Q

What are the clinical signs of Lesch-nyhan syndrome?

A

retardation, self-mutilation, aggression, hyperuricemia, gout, and choreoathetosis.

295
Q

Adenosine deaminase deficiency is caused by what?

A

Autosomal recessive inheritance not X-linked recessive inheritance.

296
Q

What is happening in the body with adenosine deaminase deficiency?

A

It is also a purine salvage deficiency.

297
Q

Adenosine deaminase deficiency is an etiology for what?

A

SCID.

298
Q

What will decrease Lymphocyte count with adenosine deaminase deficiency?

A

Excess ATP and dATP imblanaces nucleotide pool via feedback inhibition of ribonucleotide reductase and this prevents DNA synthsis and thus decrease the lymphocyte count.

299
Q

Adenosine deaminase deficiency was the first disease to be treated by what?

A

Experimental human gene therapy.

300
Q

What is the age of onset for adenosine deaminase deficiencies?

A

All ages from infancy, childhood, adolescence, or adulthood and the severity depends on 29 known genotypes

301
Q

What are the 2 dystrophies that are related to x-linked recessive diseases?

A
  1. DMD (Duchenne’s muscular dystrophy).

2. BMD (Becker’s muscular dystrophy).

302
Q

Both DMD and BMD result from what X chromosome gene mutation?

A

dystrophin gene.

303
Q

Which is more severe DMD or BMD?

A

DMD.

304
Q

Insufficient dystrophin results in what?

A

instability in structure of muscle cell membrane and accelerates muscle breakdown.

305
Q

How tall are People with dystrophies and is their intelligence affected?

A

Experience dwarfism and mental retardation.

306
Q

What will metabolism be like for people with dystrophies?

A

Carbohydrates is bad and leads to DM,

Uric acid is bad and leads to Gout.

307
Q

What are the developmental problems with dystrophies?

A

Cleft lip or palate.

308
Q

What % of people with DM type II have family members with DM type II?

A

50%.

309
Q

Who is the X-linked dominant transmitted through ?

A

Both parents.

310
Q

With X-linked dominant diseases when the mother is the only parent with the disease she will affect who?

A

50% of males and 50% of females.

311
Q

With X-linked dominant diseases when the father is the only parent with the disease he will affect who?

A

All females and none of the males.

312
Q

In Type II DM in which populations is there a high incidence?

A

Those with a high rate of intermarriage (ie: Pima indians)

313
Q

Is there a concordance of DM type II in monozygotic twins?

A

Yes there is a high concordance

314
Q

What are 2 ways that prenatally we can test for X-linked dominant diseases?

A
  1. Amniocentisis.

2. Chorionic Biopsy.

315
Q

What went wrong with neonatal respiratory distress syndrome?

A

Immature pneumocytes Type II. Because of deficient surfactant.

316
Q

What are the 3 factors that cause prematurity of a child?

A
Maternal factors (EtOH, smoking
Fetal factors (congenital abnormalities)
Placental factors (location and viability)
317
Q

What are the complications with respiratory distress syndrome?

A

cerebral intraventricular hemorrhage, and hemorrhagic testicular necrosis.

318
Q

What type of bones are fractured commonly during birth?

A

Skull, and Long bones of extermities.

319
Q

What are some birth injuries that can occur?

A
Mechanical trauma
Skull fractures
intracranial hemorrhage
peripheral nerve injury
fractures of long bones of extremities
320
Q

What is the cause of Sudden infant death syndrome (SIDS)?

A

Unknown

321
Q

SIDS is the most common cause of death in what stage of infancy?

A

those beyond the immediate neonatal period.