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Genetic Disorders Flashcards

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1
Q

Down syndrome newborn clinical manifestations

A 
hypotonia
flat facial features
enlarged/protruding tongue
small nose
upward slant of eyes
simian crease
abnormally shaped ears
hyper flexibility
extra space b/w first and second toe
brush field spots on iris
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2
Q

Down syndrome adult clinical manifestations

A 
multiple cardiac defects
multiple intestinal malformations
growth impairment
vision abnormalities
hearing loss
recurrent respiratory infections
behavioral issues
memory loss w/increased risk of Alzheimer's at an early age
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3
Q

Down syndrome increased risk

A

maternal age

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4
Q

Klinefelter syndrome clinical manifestations

A

50% develop gynecomastia

may have: impaired psychosocial skills, impaired higher language skills, increased risk of Non-Hodgkin’s lymphoma/leg ulcers/lupus

will have: small testes, abnormally low sperm count, decreased sperm testosterone, abnormal arm and leg length, increased risk of male breast cancer and pulmonary disease

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5
Q

Klinefelter Genetics

A

XXY

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6
Q

Turner syndrome clinical manifestations

A 
hearing loss
hypothyroidism
autoimmune disease/ autoimmune thyroiditis
elevated liver enzymes
primary amenorrhea
osteoporosis
renal structure abnormalities
vision/ocular abnormalities
diabetes
hyperlipidemia
HTN
cardiac structure abnormalities
aortic dissection
increased CV mortality
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7
Q

Turner syndrome physical characteristics

A 
female appearance
short, wide chest
prominent neck skin folds
usually sterile/low estrogen
small breasts
normal mental development
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8
Q

Turner syndrome genetics

A

XO

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9
Q

Cystic fibrosis clinical manifestations

A

thick mucus buildup in lungs and pancreatic ducts

failure to thrive
impaired growth in kids
chronic pulmonary infections/colonization of pseudomonas aeruginosa 
nasal polyps
epistaxis
sinusitis
chronic cough
hemoptysis
abnormal lung parenchyma
cor pulmonale
pancreatitis 
steatorrhea
CF-related DM
biliary cirrhosis
liver damage
portal HTN
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10
Q

Cystic Fibrosis males

A

98% infertile due to absence of vas deferens

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11
Q

Cystic Fibrosis genetics

A

autosomal recessive

CFTR gene

F508 mutation most common

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12
Q

Cystic Fibrosis pathophysiology

A

change in chloride and water transport across membranes

ions stay intracellularly so water not getting into mucus

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13
Q

PKU clinical manifestations

A

severe mental retardation due to excess phenylalanine

  • -impairs brain growth
  • -impairs myelination
  • -impairs NT synthesis
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14
Q

PKU genetics

A

autosomal recessive

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15
Q

PKU treatment

A

dietary restriction of phenylalanine + pharmacotherapy

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16
Q

SCID clinical manifestations

A

children prone to develop severe infections due to deficient T and B cells

commonly fatal w/in one year

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17
Q

SCID genetics

A

X-linked genes (multiple)

IL2RG defect

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18
Q

SCID treatment

A

gene therapy

hematopoietic stem cell transplant

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19
Q

SCID dx

A

look at newborn biomarkers for naive T cells

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20
Q

Alzheimer’s disease clinical manifestations

A 
memory deficits (recent events)
language changes
--verbal disfluency
--anomia
--reduced vocabulary
--diminished comprehension
--circumlocution 
visuospatial skills
--misplace items
--worsening navigation skills 
Reduced insight into self-decline
apraxia/dyspraxia
loss of executive fan
mild depression/psychosis 
changes in olfactory fan
loss of sleep
combative
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21
Q

Alzheimer’s disease early onset genetics

A

Autosomal dominant

APP gene
PSN1 gene
PSN2 gene

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22
Q

Alzheimer’s disease late onset genetics

A

Many genes

APOE epsilon 2 (decreases risk)
APOE epsilon 3 (no affect on risk)
APOE epsilon 4 (increases risk of AD)

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23
Q

Late onset Alzheimer’s disease genetic testing

A

not recommended, many genes involved and outcome isn’t certain

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24
Q

Early onset Alzheimer’s disease genetic testing

A

Can be tested for 3 genes if desired, still won’t predict age of onset

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25
Q

Alzheimer’s disease pathogenesis

A

amyloid plaques
neurofibrillary tangles
lose synaptic connections
kill neurons

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26
Q

Huntington’s disease clinical manifestations

A

PROGRESSIVE

Chorea
gait abnormalities
slow eye movements (lose smooth movement)
irritability
anxiety
depression
disrupted social relationships
paranoia
aggression
delusions
loss of insight
inflexibility
memory loss
impaired judgement
weight loss/cachexia
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27
Q

Huntington’s disease genetics

A

autosomal dominant

Huntingtin gene/protein

juvenile HD almost always inherited from father

White people, mid-life onset

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28
Q

Huntington’s Disease and CAG repeats

A

higher CAG repeats=earlier onset/greater severity

negative <35
positive >40

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29
Q

Neurofibromatosis type 1 clinical manifestations

A 
cafe au lait macules
freckling
lisch nodules
cutaneous/plexiform/nodular neurofibromas
optic gliomas
neoplasms
bony abnormalities
neurologic abnormalities
ADD
mental retardation
learning disability
seizures
macrocephaly 
HTN
peripheral neuropathy
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30
Q

Neurofibromatosis type 2 clinical manifestations

A 
neurologic lesions 
bilateral vestibular schwannomas--> lead to hearing loss, tinnitus, balance dysfunction 
meningioma
spinal tumors
peripheral neuropathy
schwannomas of other cranial nerves
ocular lesions
skin lesions
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31
Q

Neurofibromatosis type 1 genetics

A

autosomal dominant

50% inherited, 50% de novo

Neurofibromin is tumor suppressor gene

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32
Q

Neurofibromatosis type 2 genetics

A

Autosomal dominant

merlin/schwannomin are tumor suppressor genes

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33
Q

Neurofibromatosis 1 and 2

A

NF 1 more common

Genetic testing not widely available, look at family hx

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34
Q

Polycystic Kidney Disease Clinical Manifestations

A 
Bilateral renal cysts (quadruple size of kidneys)
cysts can scar and replace normal structure, affecting kidney fxn
Renal lithiasis
Hematuria
Proteinuria
flank pain
UTI
renal infection
HTN (disturbances of renal perfusion)
ESRD
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35
Q

ESRD–end stage renal disease

A

loss of normal renal tissue/death of renal tubular cells

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36
Q

Polycystic Kidney Disease affects on other systems

A 
Polycystic liver disease
Pancreatic cysts
Seminal vesicle cysts
Intracranial aneurysm 
Diverticulosis/diverticulitis
Dilation of aortic root
cardiac valve abnormalities
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37
Q

Polycystic Kidney Disease genetics

A

Usually autosomal dominant

PKD1 (85% of disease)
PKD2 (15% of disease)
some people have both

VERY RARELY autosomal recessive

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38
Q

PKD1

A

more severe symptoms and earlier onset

ESRD progression by age 60 in 50% of pts

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39
Q

Polycystic Kidney Disease genetic testing

A

available

all kidney donors should be thoroughly tested

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40
Q

Hereditary hemochromatosis clinical manifestations

A 
hepatomegaly
elevated liver enzymes
fibrosis/cirrhosis
increased risk of hepatocellular carcinoma
DM
arthropathy
heart disease
hypogonadism
amenorrhea
increased infection
hyper pigmented skin
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41
Q

Reversible clinical manifestations of hereditary hemochromatosis

A 
cardiomyopathy
arrhythmia
abdominal pain
hepatomegaly
increased liver enzymes
skin hyperpigmentation
infection
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42
Q

Irreversible clinical manifestations of hereditary hemochromatosis

A 
cirrhosis
hepatocellular carcinoma
hypogonadism
DM
hypothyroidism
arthritis
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43
Q

Hereditary hemochromatosis genetics

A

Autosomal recessive

variable penetrance

HFE gene mutation

  • -C282Y
  • -H63D
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44
Q

Hereditary Hemochromatosis gender distributions

A

more common in men

if women develop, usually at later age

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45
Q

Hereditary Hemochromatosis iron absorption/storage

A

iron absorption not regulated by amount of iron stores

increased iron stored in liver, pancreas, skin, heart, pituitary gland, causes end organ damage

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46
Q

Hereditary Hemochromatosis treatment

A

remove blood

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47
Q

Hemophilia clinical manifestations in newborn

A

intracranial hemorrhage w/seizures

increased bleeding w/circumcision

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48
Q

Hemophilia clinical manifestations in kids (usually dx by age 6)

A

abnormal bleeding during procedure/injury

excessive bruising, hematomas, hemarthroses

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49
Q

Hemophilia Clinical manifestations in adults

A 
epistaxis
bleeding after coughing
blood in stool
hematuria
delayed post-traumatic bleeding out of proportion to injury
menorrhagia
50
Q

Female symptomatic hemophilia

A

carriers can manifest mild symptoms of disease or have classic symptoms (classic presentation rare)

usually just slower clotting process

51
Q

Hemophilia genetics

A

X-linked recessive

Missing factor VIII or IX

Fathers never pass to sons

52
Q

Hemophilia A

A

disorder of factor VIII

classic hemophilia

most common

53
Q

Hemophilia B

A

disorder of factor IX

Christmas disease

54
Q

Hemophilia genetic testing

A

encouraged

55
Q

Hemophilia C

A

factor XI deficiency

autosomal recessive

56
Q

Von Willebrand’s Disease Type 1

A

mild to moderate bleeding, clinical variability, may go unrecognized

57
Q

Von Willebrand’s Disease Type II

A

moderate to moderately severe bleeding of soft tissue, joints, urinary or post procedural bleeding

58
Q

Von Willebrand’s Disease Type III

A

severe bleeding of skin and mucus membranes, hematoma, hemarthrosis, oral cavity bleeding expistaxis

59
Q

Von Willebrand’s Genetics

A

autosomal dominant w/variable penetrance

some autosomal recessive

vWF gene, 300 mutations

60
Q

vWF

A

involved in platelet adhesion to sub endothelium

most common inherited bleeding disorder

61
Q

Sickle Cell anemia clinical manifestations in kids/infants

A 
failure to thrive
anemia
splenomegaly
multiple infections
swelling of extremities
62
Q

Sickle cell anemia clinical manifestations in adults

A 
chronic anemia
jaundice
cholelithiasis
aplastic crisis (cessation of RBC production)
tissue ischemia
severe abdominal pain
stroke
acute chest syndrome  (chest pain, dyspnea, fever, renal necrosis, leg ulcers, priapism, vision loss due to infarction)
shorter life expectancy
63
Q

Sickle cell anemia genetics

A

Autosomal Recessive

Ancestry of sub-saharan Africa (African Americans, some Hispanic Americans)

64
Q

Sickle cell anemia pathophysiology

A

abnormal Hgb structure (glutamic acid replaced w/valine)–> polymerized Hgb forms long inflexible chains to form sickle cell shape of RBC

Carriers: protective against cerebral malaria

65
Q

Familial hypercholesterolemia clinical manifestations

A

atherosclerosis
tendon xanthomas
xanthelasma

angina or MI possible

66
Q

Familial hypercholesterolemia genetics

A

Autosomal dominant or recessive depending on mutation

1000 mutations on LDLR gene

homozygous form rare (heterozygous common)

67
Q

Familial hypercholesterolemia genetic testing

A

recommended if family member presents w/FH, plasma cholesterol >310mg/dL, premature CHD, tendon xanthomas

68
Q

Marfan syndrome clinical manifestations

A

overly elastic connective tissue (CV, skeletal, ocular abnormalities)

ectopia lentis (dislocated lens)
spontaneous pneumothorax
skin striae
recurrent incisional hernia
lumbosacral dural ectasia
69
Q

Marfan syndrome major causes of mortality

A

aortic dilation and aortic root disease (aortic aneurysm aortic regurgitation, aortic dissection)

70
Q

Marfan syndrome aortic dilation

A

50% of kids

60-80% of adults

71
Q

Marfan syndrome skeletal manifestations

A 
excess bone growth
dilochostenomelia
arachnodactyly
positive thumb/wrist signs
pectus carinatum/excavatum
hindfoot valus
pes planus
reduced mobility of joints
scoliosis/kyphosis
72
Q

Marfan syndrome genetics

A

autosomal dominant

25% de novo mutations

FBN1 (fibrillin-1 gene)

> 600 mutations

73
Q

Marfan syndrome dx

A

Ghent criteria and family hx

Genetic testing for dx confirmation, prenatal, predictive testing

Most common connective tissue disorder

74
Q

Familial thoracic aneurysms and dissections clinical manifestations

A

4 Ps: pallor, pulselessness, paresthesias, paralysis

aortic aneurysm/dissection

usually asymptomatic, incidental finding (symptomatic aneurysms are extremely dangerous)

75
Q

Familial thoracic aneurysms and dissections genetics

A

Autosomal dominant

4 genes

76
Q

Familial thoracic aneurysms and dissections genetic testing

A

check for Marfan syndrome first

genetic testing available for all 4 genes (screen first degree relatives)

important to know before getting pregnant

ascending aorta involved 80% of time

77
Q

Dilated cardiomyopathy

A

dilation of at least one ventricle, impaired contraction of one or both ventricles

78
Q

Hypertrophic cardiomyopathy clinical manifestations

A

Dyspnea on exertion, palpitations, chest pain, syncope

ask about all of these when doing sports physicals

79
Q

Hypertrophic cardiomyopathy–part of heart affected

A

Left ventricular hypertrophy

Impaired L ventricular contractibility

80
Q

Hypertrophic cardiomyopathy genetics

A

Autosomal dominant

12+ genes linked (1400 mutations)

de novo mutations possible

some people inherit multiple mutations

81
Q

Hypertrophic cardiomyopathy pathogenesis

A

mutations involve coding for thick/thin filaments of sarcomere (abnormal response of filaments to calcium signaling/ATP use in muscle fibers)

82
Q

Hypertrophic cardiomyopathy genetic testing

A

available

difficult to predict age of onset/severity

do physical and ECG and echocardiogram prior to testing

83
Q

Restrictive cardiomyopathy

A

stiffening/rigidity of ventricles due to replacement of normal myocardium by scar tissue (usually L ventricle)

84
Q

Arrhythmogenic cardiomyopathy clinical manifestations

A

arrhythmias, palpitations, chest pain, syncope

85
Q

Arrhythmogenic cardiomyopathy pathogenesis

A

desmosome dysfunction when subjected to mechanical stress, myocyte detachment and cell death, inflammation,, fibrofatty replacement of damaged myocytes

86
Q

Arrhythmogenic cardiomyopathy genetics

A

autosomal dominant most common

8 genes

87
Q

Arrhythmogenic cardiomyopathy–part of heart affected

A

right ventricle–fibrofatty replacement of R ventricle

Left ventricle can be involved, but less common

88
Q

Arrhythmogenic cardiomyopathy genetic testing

A

available

difficult to predict age of onset/severity

do physical and ECG and echocardiogram prior to testing

89
Q

Hereditary breast cancer risk factors

A 
family hx of breast/ovarian cancer
Ashkenazi Jews, Dutch, Icelandic, Swedish, Japanese, French Canadian
First childbirth at later ages
Oral contraceptive use
Phenotypic variability

BRCA1 and BRCA2 mutations

90
Q

Hereditary breast cancer genetics

A

autosomal dominant (high penetrance)

BRCA1 and BRCA2

91
Q

Hereditary breast cancer BRCA1

A

higher lifetime risk of cancer development
earlier onset
57% risk by age 70
may increase risk of other reproductive/GI cancers

92
Q

Hereditary breast cancer BRCA2

A

49% risk by age 70
increases risk of prostate/pancreatic cancer

may increase risk of reproductive/GI cancers

93
Q

Hereditary breast cancer management

A

clinical breast exams 2-4x annually starting age 25
annual mammograms starting 25-35 (consistent location w/prior films)
annual breast MRI
elective bilateral mastectomy
annual CA-125 level
Prophylactic bilateral salpingo-oophorectomy

94
Q

Male breast cancer

A

presence of BRCA2 in men is 6% risk for breast cancer

95
Q

Hereditary breast cancer genetic testing

A

test individual for gene then test family members

should be done in conjunction w/genetic counseling

positive, negative, ambiguous (10%) results

96
Q

Hereditary ovarian cancer

A

most common cause of gynecologic cancer death, second most common gynecologic malignancy

97
Q

hereditary ovarian cancer clinical manifestations

A

belly pain/constipation (nondescript symptoms)

98
Q

hereditary ovarian cancer genetics

A

lifetime risk of general population = 1/58

BRCA1 lifetime risk by age 70 = 40%
BRCA2 lifetime risk by age 70 = 18%

5-10% of cases are hereditary

99
Q

Hereditary ovarian cancer genetic testing

A

same as hereditary breast cancer

100
Q

Hereditary ovarian cancer management

A

annual/semiannual transvaginal u/s, prophylactic bilateral salpingo-oophorectomy (35-40)

101
Q

Hereditary colorectal cancer clinical manifestations

A 
hematochezia/melena
unexplained weight loss
prolonged diarrhea/constipation
cramping abdominal pain
decrease in caliber/size of stools (pencil thin)
vomiting
abdominal distention
decreased energy

anemia of unexplained origin (esp in elderly pts)

102
Q

Hereditary colorectal cancer types of polyps

A

adenomatous–tubular, villous, tubulovillous

non-adenomatous–hyperplastic

inflammatory

103
Q

Hereditary colorectal cancer genetics

A

15-30% of CRC is familial (single or multi gene)

more common in males and African Americans

genetic cancers more common in R colon

104
Q

Familial adenomatous polyposis (FAP) clinical manifestations

A

adenomatous polyps (15% develop by age 10, 90% by age 30)

100% lifetime risk of colon cancer (39 avg age of onset)

105
Q

Attenuated FAP

A 
less polyps
develops at later age
70-80% lifetime risk
mean age of onset 56
adenomas typically in R colon
106
Q

Gardner Syndrome

A

extracolonic manifestations

  • -polyps of upper GI tract
  • -thyroid cancer
  • -childhood hepatoblastoma
  • -CNS tumors
  • -adrenal adenomas
  • -desmoid tumors
  • -sebaceous cysts
  • -fibromas
  • -mandibular osteomas
107
Q

FAP genetics

A

autosomal dominant most common

APC gene, near complete penetrance (tumor suppressing gene ensuring correct # of chromosomes present prior to replication)

Autosomal recessive less common (MYH, MUTYH gene)—involved in error correction, less obvious in fhx

25% of cases are de novo

108
Q

FAP genetic testing

A

offered to pts and family members (APC and MYH genes)

if genetic testing unavailable, should do yearly colonoscopies starting at age 12

109
Q

Lynch syndrome clinical manifestations

A

few polyps (<100) but fatter, larger, more rapid transformation to cancer

R side of colon

associated w/other malignancies

cancer can develop at different sites in colon at different times

110
Q

Lynch syndrome genetics

A

autosomal dominant
MLH1, MSH2, MSH6, PMS2 (mismatch repair genes)

risks depend on geographical/environmental factors

111
Q

Peutz-Jehgers syndrome

A

autosomal dominant
characteristic melanocytic macule on lips/perioral/buccal regions

high risk of colon cancer, increased risk of other cancers

112
Q

Lynch syndrome management

A

colonoscopy every 1-2 years beginning at age 25 or 5 years prior to age of youngest dx

upper endoscopy every 2-3 years

pelvic exam, TVUS, CA-125, bx

prophylactic total abdominal hysterectomy

113
Q

Lynch syndrome dx

A

family hx

Amsterdam II criteria

Genetic testing on tumor

114
Q

Chronic myelogenous leukemia clinical manifestations

A 
fatigue
night sweats
fever
splenomegaly
weight loss
bleeding episodes
115
Q

CML genetics

A

not inherited

philadelphia chromosome (9 and 22 translocations)
cells don't die
increased tyrosine activity=abnormal cell division/growth and impaired apoptosis

male predominance (55)

116
Q

CML pathogenesis

A

uncontrolled production of granulocytes (primarily neutrophils, “-phils”)
proliferation starves out space needed for bone marrow

lose cells that promote clotting, fight infection, carry oxygen

117
Q

CML dx

A

bone marrow aspiration

118
Q

Familial Malignant Melanoma (FAMM) clinical manifestations

A

large number of atypical moles at early age, more aggressive when familial

119
Q

FAMM predictors

A 
light complexion
inability to tan
red hair
number of atypical nevi >10
nevi on back
freckles

TANNING BEDS

120
Q

FAMM genetics

A

autosomal dominant

CDKN2A and MC1R genes

genetics+environment

121
Q

FAMM genetic testing

A

not recommended

Clinical Science (4 decks)

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