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FA Diseases Flashcards

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1
Q

Achondroplasia

  • AD or AR?
  • mutation
  • what does this mutation cause?
  • symptoms
A
  • AD
  • Mutation of fibroblast growth factor receptor 3 (FGFR3)
  • inhibits chondrocyte proliferation.
  • MCC of dwarfism; limb length affected more than head or torso size.
  • Full penetrance
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2
Q

Autosomal Dominant PCKD

- AD or AR?

A
  • AD
  • Bilateral, massive enlargement of kidneys due to multiple large cysts.
  • 85% of cases are due to mutation in PKD1
  • chromosome 16; 16 letters in “polycystic kidney”
  • remainder due to mutation in PKD2 (chromosome 4)
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3
Q

Familial Adenomatous Polyposis (FAP)

A
  • AD
  • Colon becomes covered with adenomatous polyps after puberty.
  • Progresses to colon cancer unless colon is resected.
  • Mutations on chromosome 5q (APC gene); 5 letters in “polyp”
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4
Q

Familial hypercholesterolemia

A
  • AD
  • Elevated LDL due to defective or absent LDL receptor.
  • Leads to severe atherosclerotic disease early in life, corneal arcus, tendon xanthomas (classically in the Achilles tendon)
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5
Q

Hereditary hemorrhagic telangiectasia

A
  • AD
  • Inherited disorder of blood vessels.
  • Findings:
    1. branching skin lesions (telangiectasias)
    2. recurrent epistaxis
    3. skin discolorations
    4. arteriovenous malformations (AVMs)
    5. GI bleeding
    6. hematuria.
  • AKA Osler-Weber-Rendu syndrome
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6
Q

Hereditary spherocytosis

A
  • AD
  • Spheroid erythrocytes due to spectrin or ankyrin defect
  • hemolytic anemia;
  • increase MCHC
  • increase RDW.
  • Treatment: splenectomy
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7
Q

Huntington disease

A
  • AD
  • “Hunting 4 CAGs.”
  • Findings: depression, progressive dementia, choreiform movements, and caudate atrophy.
  • increase dopamine,
  • decrease GABA
  • decrease ACh in the brain.
  • Gene on chromosome 4;
  • trinucleotide repeat disorder: (CAG)n.
  • Demonstrates anticipation: increase repeats leads to earlier (decreased) Žage of onset
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8
Q

Li-Fraumeni syndrome

A
  • AD
  • Abnormalities in TP53 lead to Žmultiple malignancies at an early age.
  • AKA SBLA cancer syndrome (sarcoma, breast, leukemia, adrenal gland)
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9
Q

Marfan Syndrome

  • mutation
  • leads to
  • findings
A
  • AD
  • FBN1 gene mutation on chromosome 15
  • leads to Ždefective fibrillin (scaffold for elastin)
  • leads to Žconnective tissue disorder affecting skeleton, heart, and eyes.
  • Findings: tall with long extremities, pectus excavatum, hypermobile joints, and long, tapering fingers and toes (arachnodactyly);
  • cystic medial necrosis of aorta leads to Žaortic incompetence and dissecting aortic aneurysms
  • floppy mitral valve.
  • Subluxation of lenses, typically upward and temporally
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10
Q

Multiple endocrine neoplasias (MEN)

A
  • AD
  • Several distinct syndromes (1, 2A, 2B) characterized by familial tumors of endocrine glands, including those of the pancreas, parathyroid, pituitary, thyroid, and adrenal medulla.
  • MEN 1 is associated with MEN1 gene,
  • MEN 2A and 2B are associated with RET gene
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11
Q

Neurofibromatosis type 1 (von Recklinghausen disease)

A
  • AD
  • Neurocutaneous disorder characterized by café-au-lait spots, cutaneous neurofibromas, optic gliomas, pheochromocytomas, Lisch nodules (pigmented iris hamartomas).
  • 100% penetrance
  • variable expression.
  • Caused by mutations in the NF1 gene on chromosome 17
  • 17 letters in “von Recklinghausen”
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12
Q

mutation associated with MEN 1

A
  • MEN 1 is associated with MEN1 gene

- AD

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13
Q

Mutation associated with MEN2A

A
  • MEN 2A and 2B are associated with RET gene.

- AD

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14
Q

Neurofibromatosis type 2

A
  • AD
  • NF2 gene on chromosome 22 (type 2 = 22)
  • Findings:
    1. bilateral acoustic schwannomas
    2. juvenile cataracts
    3. meningiomas
    4. ependymomas
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15
Q

Tuberous sclerosis

A
  • AD
  • Neurocutaneous disorder with multi-organ system involvement, characterized by:
  • numerous benign hamartomas.
  • Variable expression
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16
Q

von Hippel-Lindau disease

A
  • AD
  • Disorder characterized by development of numerous tumors, both benign and malignant.
  • Associated with deletion of VHL gene (tumor suppressor) on chromosome 3 (3p).
  • Von Hippel-Lindau = 3 words for chromosome 3
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17
Q

Mutation associated with MEN2B

A
  • MEN 2A and 2B are associated with RET gene

- AD

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18
Q

Cystic Fibrosis

- genetics

A
  • AR
  • defect in CFTR gene on chromosome 7
  • commonly a deletion of Phe508.
  • Most common lethal genetic disease in Caucasian population.
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19
Q

Cystic Fibrosis

- pathophysiology

A
  • CFTR encodes an ATP-gated Cl- channel that secretes Cl- in lungs and GI tract, and reabsorbs Cl- in sweat glands.
  • Most common mutationŽ leads to misfolded protein
  • so it’s retained in RER and not transported to cell membrane
  • this causes a decrease in Cl- (and H2O) secretion
  • increased intracellular Cl- results in compensatory increased Na+ reabsorption via epithelial Na+ channels
  • this leads to increased ŽH2O reabsorption
  • this leads to Žabnormally thick mucus secreted into lungs and GI tract.
  • increased Na+ reabsorption also causes more negative transepithelial potential difference.
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20
Q

Cystic Fibrosis

- Diagnosis

A
  • increased Cl- concentration (> 60 mEq/L) in sweat is diagnostic.
  • Can present with contraction alkalosis and hypokalemia
  • (ECF effects analogous to a patient taking a loop diuretic) because of ECF H2O/Na+ losses and concomitant renal K+/H+ wasting.
  • increased immunoreactive trypsinogen (newborn screening).
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21
Q

Cystic Fibrosis

- complications

A
  1. Recurrent pulmonary infections:
    - eg, S aureus [early infancy],
    - P aeruginosa [adolescence]
    - chronic bronchitis and bronchiectasis (these show a Žreticulonodular pattern on CXR.)
  2. Pancreatic insufficiency, malabsorption with steatorrhea, fat-soluble vitamin deficiencies (A, D, E, K),
  3. biliary cirrhosis, liver disease.
  4. Meconium ileus in newborns.
  5. Infertility in men (absence of vas deferens, spermatogenesis may be unaffected) and
  6. subfertility in women (amenorrhea, abnormally thick cervical mucus).
  7. Nasal polyps, clubbing of nails.
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22
Q

Cystic Fibrosis

- treatment

A

Multifactorial:

  • chest physiotherapy,
  • albuterol,
  • aerosolized dornase alfa (DNAse),
  • and hypertonic saline facilitate mucus clearance.
  • Azithromycin used as anti-inflammatory agent.
  • Pancreatic enzymes for insufficiency.
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23
Q

Genetic Disorder associated with Chromosome 3

A
  • von Hippel-Lindau disease

- renal cell carcinoma

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24
Q

Trinucleotide repeat expansion diseases

A
  • Try (trinucleotide)
  • hunting (Huntington disease)
  • for
  • my (myotonic dystrophy)
  • fried (Friedreich ataxia)
  • eggs (X = fragile X syndrome)
  • Fragile X syndrome = (CGG)n.
  • Friedreich ataxia = (GAA)n.
  • Huntington disease = (CAG)n.
  • Myotonic dystrophy = (CTG)n.
  • “X-Girlfriend’s First Aid Helped Ace My Test”
  • use first letter of disease and middle letter of 3 repeat. Ex: Fried = First; GAA (middle A) = Aid
  • May show genetic anticipation (disease severity increases
    and age of onset decreases in successive generations)
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25
Down Syndrome | - genetics
- Trisomy 21 - 95% of cases due to meiotic nondisjunction (with advanced maternal age; from 1:1500 in women 45 years old). - 4% of cases due to unbalanced Robertsonian translocation, most typically between chromosomes 14 and 21. - 1% of cases due to mosaicism (no maternal association; post- fertilization mitotic error)
26
Down Syndrome - incidence/epi - Screening
- Trisomy 21 - Incidence 1:700. - "(D)rinking age (21)" - Most common viable chromosomal disorder and MCC of genetic intellectual disability. 1. First-trimester ultrasound commonly shows: - increased nuchal translucency - hypoplastic nasal bone - decreased serum PAPP-A - increased free β-hCG. 2. Second-trimester quad screen shows: - decreased α-fetoprotein - increased β-hCG - decreased estriol - increased inhibin A
27
Genetic Disorder associated with Chromosome 4
- Autosomal Dominant Polycystic Kidney Disease, aka ADPKD (PKD2) - achondroplasia, - Huntington disease
28
Genetic anomaly in Friedreich ataxia
- It is a Trinucleotide repeat expansion disease. - (GAA)n - May show genetic anticipation (disease severity increases and age of onset decreases in successive generations). - "X-Girlfriend’s First Aid Helped Ace My Test"
29
Genetic Disorder associated with Chromosome 5
- Cri-du-chat syndrome | - familial adenomatous polyposis
30
Genetic Disorder associated with Chromosome 6
Hemochromatosis (HFE)
31
Sequences of repeats in Trinucleotide repeat expansion diseases
- Fragile X syndrome = (CGG)n - Friedreich ataxia = (GAA)n - Huntington disease = (CAG)n - Myotonic dystrophy = (CTG)n
32
Genetic Disorder associated with Chromosome 7
- Williams syndrome | - cystic fibrosis
33
Patau Syndrome - incidence - screening
- Trisomy 13 - (P)uberty (13) - Incidence 1:15,000 1. 1st-trimester pregnancy screen shows: - decreased free β-hCG - decreased PAPP-A
34
Genetic Disorder associated with Chromosome 9
Friedreich ataxia
35
Genetic Disorder associated with Chromosome 11
- Wilms tumor | - β-globin gene defects (ex, sickle cell disease, β-thalassemia)
36
Genetic Disorder associated with Chromosome 13
- Patau syndrome - Wilson disease - retinoblastoma (RB1) - BRCA2
37
Fragile X Syndrome
- X-linked dominant inheritance. - Trinucleotide repeat in FMR1 geneŽ: (CGG)n. - this causes methylation which decreases Žexpression. - The 2nd MCC of genetic intellectual disability (after Down syndrome). - Findings: 1. post-pubertal macroorchidism (enlarged testes) 2. long face with a large jaw, large everted ears 3. autism 4. mitral valve prolapse. - "Fragile X = eXtra large testes, jaw, ears"
38
Genetic Disorder associated with Chromosome 15
- Prader-Willi syndrome - Angelman syndrome - Marfan syndrome
39
Genetic Disorder associated with Chromosome 16
- Autosomal dominant Polycystic Kidney Disease (PDK1) | - α-globin gene defects (ie, α-thalassemia)
40
22q11 deletion syndromes
Microdeletion at chromosome 22q11 leads to Žvariable presentations including: - (C)left palate - (A)bnormal facies - (T)hymic aplasiaŽ which leads to T-cell deficiency - (C)ardiac defects, and - (H)ypocalcemia 2° to parathyroid aplasia. - "CATCH-22" 1. DiGeorge syndrome: thymic, parathyroid, and cardiac defects. 2. Velocardiofacial syndrome: palate, facial, and cardiac defects. - All Due to aberrant development of 3rd and 4th branchial pouches
41
Genetic Disorder associated with Chromosome 17
- Neurofibromatosis type 1 | - BRCA1
42
Cri-du-chat syndrome
- Congenital microdeletion of short arm of chromosome 5 - (46,XX or XY, 5p−). - Findings: microcephaly, moderate to severe intellectual disability, high-pitched crying/mewing(!), epicanthal folds, cardiac abnormalities (VSD)
43
Williams Syndrome
- Congenital microdeletion of long arm of chromosome 7 - deleted region includes elastin gene - Findings: 1. distinctive “elfin” facies 2. intellectual disability 3. hypercalcemia (sensitivity to vitamin D) 4. well-developed verbal skills 5. extreme friendliness with strangers 6. cardiovascular problems
44
Genetic Disorder associated with Chromosome 18
Edwards Syndrome
45
Findings in Fragile X Syndrome
- post-pubertal macroorchidism (enlarged testes) - long face with a large jaw - large everted ears - autism - mitral valve prolapse
46
Patau Syndrome | - findings
- Trisomy 13 - (P)uberty (13) - severe intellectual disability - rocker- bottom feet - microphthalmia - microcephaly - cleft liP/Palate - holoProsencephaly - Polydactyly - congenital heart disease - cutis aplasia. - Death usually occurs within 1 year of birth
47
Genetic Disorder associated with Chromosome 21
Down Syndrome
48
Down Syndrome puts you at an increased risk for ____ later in life
- early-onset Alzheimer disease (chromosome 21 codes for amyloid precursor protein) - increased risk of ALL and AML
49
Edwards Syndrome | - findings
- Trisomy 18 - (E)lection age (18) - severe intellectual disability - rocker- bottom feet - micrognathia (small jaw) - low-set Ears - clenched hands with overlapping fingers - prominent occiput - congenital heart disease. - Death usually occurs within 1 year of birth
50
Genetic Disorder associated with Chromosome 22
- Neurofibromatosis type 2 | - DiGeorge syndrome (22q11)
51
Down Syndrome | - findings
- Trisomy 21 - intellectual disability - flat facies - prominent epicanthal folds - single palmar crease - gap between 1st 2 toes - duodenal atresia - Hirschsprung disease - congenital heart disease (eg, atrioventricular septal defect) - Brushfield spots. - Associated with early-onset Alzheimer disease (chromosome 21 codes for amyloid precursor protein) and - increased risk of ALL and AML
52
Edwards Syndrome - incidence/epi - screening
- Trisomy 18 - Incidence 1:8000 - (E)lection age (18) - 2nd MC trisomy resulting in live birth (most common is Down syndrome) - PAPP-A and free β-hCG are decreased in first trimester. - Quad screen shows: - decreased α-fetoprotein, - decreased β-hCG - decreased estriol, - decreased or normal inhibin A
53
Genetic Disorder associated with the X Chromosome
- Fragile X syndrome - X-linked agammaglobulinemia - Klinefelter syndrome (XXY)
54
Duchenne Muscular Dystrophy | - genetics
- X-linked recessive disorder - typically due to frameshift or nonsense mutations - lead to Žtruncated dystrophin protein - causes Žinhibited muscle regeneration - Duchenne = deleted dystrophin - Dystrophin gene (DMD) is the largest protein-coding human geneŽ - this increases the chance of spontaneous mutation
55
Duchenne Muscular Dystrophy | - signs/symptoms
- Weakness begins in pelvic girdle muscles and progresses superiorly. - Pseudohypertrophy of calf muscles due to fibrofatty replacement of muscle. - Gower maneuver: patients use upper extremities to help them stand up. - Waddling gait. - Onset before 5 years of age. - Dilated cardiomyopathy is common cause of death
56
Duchenne Muscular Dystrophy - pathophysiology - diagnosis
- Dystrophin gene (DMD) is the largest protein-coding human geneŽ - this increases the chance of spontaneous mutation. - Dystrophin helps anchor muscle fibers, primarily in skeletal and cardiac muscle. - It connects the intracellular cytoskeleton (actin) to the transmembrane proteins α- and β-dystroglycan, - which are connected to the extracellular matrix (ECM). - Loss of dystrophin results in myonecrosis. - increased CK and aldolase are seen; - Western blot and muscle biopsy confirm diagnosis
57
Becker Muscular Dystrophy
- X-linked (recessive) disorder - typically due to non- frameshift insertions in dystrophin gene - (partially functional instead of truncated). - Less severe than Duchenne MD - Onset in adolescence or early adulthood
58
Myotonic type 1 Muscular Dystrophy
- Autosomal dominant. - CTG trinucleotide repeat expansion in the DMPK geneŽ - leads to abnormal expression of myotonin protein kinase Ž - this causes myotonia, muscle wasting - cataracts - testicular atrophy - frontal balding - arrhythmia. - "My Tonia, My Testicles (testicular atrophy), My Toupee (frontal balding), My Ticker (arrhythmia)"
59
Chromosomes commonly involved in Robertsonian translocations
- Robertsonian translocations commonly involve chromosome pairs 13, 14, 15, 21, and 22 - One of the most common types of translocation
60
Robertsonian Translocations
- Occurs when the long arms of 2 acrocentric chromosomes (chromosomes with centromeres near their ends) fuse at the centromere and the 2 short arms are lost. - Balanced translocations normally do not cause any abnormal phenotype. - Unbalanced translocations can result in miscarriage, stillbirth, and chromosomal imbalance (eg, Down syndrome, Patau syndrome)

First Aid Genetics (2 decks)

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