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Pathophysiology > Genetic and Congenital Disorders > Flashcards

Genetic and Congenital Disorders Flashcards

1
Q

What is a genetic disorder?

A

Discrete event that affects gene expression in a group of cells related to each other by gene linkage

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2
Q

What factors can cause genetic disorders?

A
  • Genetic factors (single or multi gene disorder or chromosomal abnormality)
  • Environmental factor during embryonic or fetal development (maternal disease, infection, drugs taken during pregnancy)
  • May show up as “birth defects” or later as congenital disorders
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3
Q

What is the difference between genotype and phenotype?

A

GENO: genetic composition
PHEN: observable expression of genotype

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4
Q

What does autosomal dominant imply?

A

That each child has a 50% chance of inherting a disorder

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5
Q

What does autosomal recessive imply?

A

Each child has 25% chance of being affected, 25% chance of being unaffected, and 50% chance of being a carrier

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6
Q

What is Marfan Syndrome?

A
  • Autosomal dominant (1/20,000)
  • Familial in 75%; rest are result of a mutation in parent’s lifetime
  • Affects fibrillin I, a component of extracellular matrix, leading to decreased maintenance of tissue architecture of body structures (ex. tendons, vessels, etc.)
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7
Q

What are the manifestations of Marfan Syndrome?

A
  • Long thin body and fingers
  • Hyper extensible joints
  • Kyphosis, scoliosis
  • Pectus excavatum (deeply depressed sternum) (pigeon chest)
  • Bilateral dislocation of lens (weak ligaments)
  • Myopia with predisposition to retinal detachment
  • Mitral valve prolapse
  • Progressive dilation of aortic valve ring
  • Weak aorta and other arteries (dissection, rupture) (increased during pregnancy)
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8
Q

What is Neurofibromatosis (NF)?

A
  • Neurogenic tumors arising from Schwann cells in peripheral nervous system
  • Result of defect in tumor-suppressor gene
  • Type NF-1 (Recklinghausen disease) or Type NF-2
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9
Q

What is NF-1 also known as? What is it?

A
  • Recklinghausen Disease

- Autosomal dominat (50% familial, 50% new mutation)

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10
Q

Describe the manifestations of NF-1 (Recklinghausen disease):

A
  • Neural tumors on body (sof, pink lesions projecting from skin; firm, round, painful)
  • Cafe at lait spots (birth marks) (flat, brown; sharply demarcated edges)
  • Lisch nodules on iris (often no problems, but can cause vision problems)
  • Scoliosis
  • Learning difficulties
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11
Q

What is NF-2?

A
  • Acoustic nerve tumors
  • Multiple intracranial & spinal meningiomas near cranial nerve VIII (Auditory-vestibular nerve)
  • Asymptomatic for first 15 years
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12
Q

What are the manifestations of NF-2?

A
  • Headaches
  • Hearing loss
  • Tinnitus
  • Exacerbated by pregnancy and oral contraceptives
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13
Q

What is Phenylketonuria (PKU)?

A
  • Autosomal recessive disorder (both parents must have it)
  • Elevation of phenylalanine (Amino acid obtained via diet; Usually converted to tyrosine by liver enzyme; Tyrosine assists neurotransmitter and melanin synthesis)
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14
Q

What are the manifestations of PKU?

A
  • May appear normal at birth; symptoms appear in a few weeks but too late as CNS damage has occurred
  • Musty odor to sweat/urine
  • Light skin and hair, eczema
  • Microcephaly, mental retardation
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15
Q

What is the treatment for PKU?

A
  • Dietary supplements must being invitro to prevent mental retardation
  • Enzyme replacement being developed
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16
Q

What is Tay-Sachs disease?

A
  • Rare autosomal recessive genetic disorder (Eastern European Jewish population high carrier rate)
  • Accumulation of gangliosides in the lysosomes of all organs, predominantly brain and retina neurons
  • Results in destruction of neurons
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17
Q

What is diagnostic for Tay-Sachs disease?

A

A cherry red-spot on macula, surrounded by white matter

18
Q

What are the manifestations of Tay-Sachs disease?

A
  • Infants appear normal at birth
  • Progressive weakness, muscle flaccidity appearing at approximately 6 months of age
  • Decreased attention span
  • Rapid deterioration of motor & mental function, often with generalized seizures after approx. 10 months
  • Visual impairment and eventual blindness
  • Death by 4-5 years (no cure or tx)
19
Q

What happens with a cleft lip and palate?

A
  • Common birth defect/ conspicuous
  • Boys > girls (lip and palate)
  • Isolated cleft palate more common in girls
  • Develops at 35 days gestation
20
Q

What is the etiology of a cleft lip and palate?

A
  • Heredary
  • Environmental
  • Teratogens (ex. rubella, anticonvulsant medications)
21
Q

What are the manifestations of a cleft lip and palate?

A
  • Varies (size, involvement of teeth, uni/bilateral)
  • Difficulty feeding
  • Difficulty vocalizing/speech
22
Q

What is the treatment for a cleft lip and palate?

A
  • Plastic surgery (3 months to close lip; 1 year to close palate)
  • Dental/Orthodontia work
  • Speech therapy
23
Q

What is Down Syndrome? (aka. Trisomy 21)

A
  • Most common chromosomal disorder (1/733 births)
  • Error in cell division during meiosis resulting in trisomy of chromosome 21
  • UKE; aged oocyte
  • Obvious manifestations at birth
24
Q

What are the risk factors for Down Syndrome?

A
  • Increases with maternal age

- Environmental agents (chemicals, radiation, drugs)

25
Q

What are the manifestations of Down Syndrome relating to the CNS and head/face?

A
  • Mental retardation
  • Increased risk of Alzheimer’s disease
  • Small, square skull
  • Flat facial profile, small nose, depressed nasal bridge
  • Eyes: slant upwards, epicanthal fold
  • Ears: small, low-set, malformed
  • Tongue: large protruding (open mouth)
26
Q

What are the skeletal and CVS manifestations of Down Syndrome?

A
  • Retarded growth
  • Hands: short, fingers curled inwards, single palmar crease
  • Large space between large and second toe
  • Hypotonia, joint laxity
  • Fat pad on back of neck
  • Congenital heart defects
  • GI malformations
  • Acute Leukemia
27
Q

What is Turner Syndrome?

A
  • All of part of X chromosome is absent

- Results in a variation of manifestations in females

28
Q

What are the sexual manifestations of Turner Syndrome in females?

A
  • Lack ovaries (no menstruation)

- Lack secondary sex characteristics

29
Q

What are the CNS manifestations of Turner Syndrome?

A
  • Visual/spatial disorganization (difficulty driving, doing math, focusing, etc.)
  • Strabismus
30
Q

What are the skeletal, CVS and integument manifestations of Turner Syndrome?

A
  • Short, with normal body proportions
  • Deformed nail growth; short 4th metacarpal
  • Congenital heart defects
  • Altered vascular supply to kidneys
  • Neck webbing
  • Multiple pigmented nevi (moles)
  • Lymphedema of hands/feet
31
Q

Describe the diagnosis and treatment of Turner Syndrome:

A
  • Often not noted until late childhood or early adolescence

- Growth hormone, estrogen therapy, etc.

32
Q

What is Klinefelter Syndrome?

A
  • At least one extra X chromosomes in males (XXY)

- Often undetected at birth except for smaller penis and small, firm testicles

33
Q

What are the manifestations of Klinefelter Syndrome?

A
  • Gynecomastia
  • Sparse facial and body hair
  • Small testes (don’t respond at puberty to androgens)
  • Inability to produce sperm
  • Tall stature at puberty d/t low testosterone levels (lower body longer than upper)
  • Female distribution of fat later in life
34
Q

What are the categories of genetic disorders d/t environmental influences?

A
  • General maternal factors
  • Teratogenic factors
  • Ionizing radiation
  • Chemicals
  • Drugs
35
Q

What are some general maternal factors that can cause genetic disorders?

A
  • Hormonal balance
  • State of health (ex. Measles, DM)
  • Nutritional status (ex. Enough folic acid?)
  • Medicaions/drugs
36
Q

What is the link between ionizing radiation and genetic disorders?

A
  • Teratogenic and mutagenic
  • Possibly effecting inheritable genetics
  • No evidence of diagnostic procedures being dangerous
  • Microcephaly, skeletal malformations and mental retardation
37
Q

What factors of chemical and drug use are dependent in relation to damage?

A
  • Time of exposure (embryonic/fetal development)
  • Length of exposure (time)
  • Extent of exposure (dosage)
  • Type of chemical/drug (lipid-soluble will cross placenta, small molecular weight cross easily)
38
Q

What is Fetal Alcohol Syndrome?

A
  • Alcohol is lipid-soluble, moderate molecular weight
  • Passes freely across placental barrier
  • Results in concentration just as high in fetus as in mother
  • Effects dependent on time/amount
  • Prenatal and/or postnatal growth retardation
39
Q

What are the manifestations of Fetal Alcohol Syndrome?

A
  • CNS abnormalities (devleopmental and intellectual delays)
  • Characteristic facial feaures (short nose, small head, thin upper lip, etc.)
  • Growth deficits
40
Q

What is Folic Acid Deficiency?

A
  • Implicated in developmental of neural tube defects of brain, spine and spinal cord (anencephaly, spina bifida)
  • 400 ug/day recommended during pregnancy
  • Dietary sources of enriched cereals; OJ; dark, leafy green vegetables/legumes
41
Q

What are infectous agents causing genetic defects?

A
  • Toxoplasmosis (parasitic infection from undercooked meat/cat feces)
  • Rubella (mother infected in first 20 weeks of pregnancy = defects)
  • Cytmegalovirus (can lead to retardation)
  • Herpes Simplex Virus, type 2 (genital herpes)

Pathophysiology (4 decks)

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