Genetics (Peds)

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  1. Genotype
    the genetic make up of an individual
  2. Karyotype
    the description of chromosomes present in somatic cells
  3. Phenotype
    the observable or measurable expression of the genotype
  4. Chromosome
    threadlike bodies that carry the genes (46 chromosomes; a pair of 23 from each parent)
  5. Gene
    protein material that is responsible for programming the body's processes
  6. Genetic Testing
    doesn't test for all genetic conditions
  7. Negative genetic test results
    doesn't always mean that everything is normal
  8. Percent of children born with birth defects
    • 2-5%
    • defects can be major or minor
  9. Causes of birth defects
    single genes, chromosomes, intrauterine environmental factors, multifactoral inheritance
  10. Syndrome
    recognized pattern of phenotypes (malformations) with a specific etiology (ex. Down's SYndrom (T21); chromosomal abnormality)
  11. Association
    • Nonrandom pattern of phenotypes without a specific etiology
    • ex. VATER; Vertebral defects, Anal defects, Tracheal, Esophageal Fistula, Radial/Renal defects
    • as we identify specfic genes with specific functions in cell development more associations may become syndromes
  12. Chromosomal Abnormalities: Autosomal Chromosomal
    • Down's Syndrome (Trisomy 21)
    • Edward's Syndrome (Trisomy 18)
  13. Down's Syndrome
    • Trisomy 21
    • facial phenotypes (depressed nasal bridge, tongue, eyes) hand features (thumb placement, palmar crease)
    • hypotomic or floppy, hyperextensible joints
    • mental retardation
    • birth defects (heart, GI, cleft lip, etc)
  14. Edward's Syndrome
    • Trisomy 18
    • deformed and low set ears
    • rocker-bottom feet
    • lower extremity defects
    • IUGR-failure to thrive
    • cardiac defects
    • severe mental retardation
  15. Chromosomal Abnormalities: Sex Chromosomes
    • Turner's Syndrome (45 X)
    • Klinefelter (47 XXY)
  16. Turner's Syndrome
    • 45 X (GIRLS)
    • short stature
    • low posterior hairline
    • webbed neck
    • usually infertile
    • lymphedema of hand and feet
    • often have cardiac defects
    • in teens delayed development and amenorrhea
  17. Klinefelter
    • 47 XXY (BOYS)
    • tall with long legs
    • hypogenitalism
    • sterile
    • poor psychosocial adjustment
    • often hard to detect until puberty
  18. Single Gene Disorders
    • defected gene carried from generation to generation
    • each person carries the potential for 3-8 genes that might manifest in a defect
  19. Single Gene Abnormalities: Autosomal Dominant (Info)
    • Girls and Boys 50% chance
    • variable expression: extend and severity of disorder varies (often less severe) if gene is inherited
  20. Autosomal Dominant
    • Marfan Syndrome
    • Neurofibromatosis
  21. Marfan Syndrome
    • Autosomal Dominant
    • abnormal length of fingers, toes, and extremities
    • hypermobility of joints (know for dislocations)
    • defects of spine and chest
    • more severe: aortic aneurysms, dislocation of optic lens (blindness)
  22. Neurofibromatosis
    • Autosomal Dominant
    • alters peripheral nerve differentiation and growth
    • often only phenotype is cafe-au-lait spots (pigmented birthmark) or a few pigmented nevi (moles)
    • more severe: skin problems (multiple pigmented nevi), learning disabilities, seizures (due to nerve involvement)
  23. Single Gene Abnormalities: Autosomal Recessive (Info)
    • parents can be unaffected even if carrying one of the genes
    • girls and boys are equally at risk
    • the risk for each pregnancy will be the same with the same partners
  24. Autosomal Recessive
    • Cystic Fibrosis
    • Sickle Cell
    • Thalassemias
    • Tay-Sachs
    • PKU
    • Galactosemia
    • Hypothyroidism
  25. Cystic Fibrosis
    • Autosomal Recessive
    • chromosome 7 (1-20 US and North Europeans carry gene)
    • dysfunction of the exocrine system: mechanial destruction of organs due to increased viscosity of mucus gland secretions
    • abnormal chloride movement: sweat and saliva have increased sodium and chloride production (sweat test 2-5x greater than normal)
  26. Cystic Fibrosis: Respiratory
    • lungs are are always filled with mucus
    • bronchioles become obstructed increasing risk of bacterial infection (pneumonia)
    • cough is moist, productive (thick secretions)
    • crackles
    • wheezing
    • rhonci
    • rales
    • complications: pulmonary hypertension and cor pulmonale
  27. Cystic Fibrosis: Pancreas
    • increased mucus inhibits lipase, trypsin and amylase production
    • eventually increased production of insulin (potentially all will have DM)
  28. Cystic Fibrosis: Liver
    • unable to metabolize nutrients, especially vitamins leading to malnutrition
    • at risk for liver failure
  29. Cystic Fibrosis: Duodenum
    • unable to digest (up to 50%) without all enzymes
    • increased risk for dehydration with faulty water reabsorption (stool foul, loose, bulky)
  30. Cystic Fibrosis: Reproductive Organs
    • most males sterile
    • females have fallopian tube problems
  31. Cystic Fibrosis: Mouth and Dental
    abnormal flora due to salivary gland disruptions which often are source for respiratory infections
  32. Cystic Fibrosis: Dx
    • meconium ileus is first symptom
    • failure to thrive, poor growth patterns, chronic recurrent respiratory infections
    • diagnosed with sweat test
    • even with tx, pulmonary function can decline
  33. Cystic Fibrosis: Nursing Care
    • Respiratory Care- postural drainage and breathing treatments
    • Mouth Care
    • Nutritional Care- frequent offerings with enzyme replacement; high calorie, high proteina and moderate fat
    • Psychosocial Care- family needs (financial and stress), school, peers
  34. Single Gene: X-Linked Dominant
    • rare
    • only one parent has a mild version (similar to Autosomal Dominant)
    • Ex. Hypophosphatemic Vit D- Resistant Rickets
  35. Single Gene: X-Linked Recessive
    • rare
    • females usually carriers, need both X chromosomes to carry defected genes
    • males usually diseased, since they only have one X chromosome that carries the defected genes
    • ex. Hemophilia
  36. Issues with Genetics
    • Privacy, esp with insurance
    • do we want to dx before giving tx?
    • do client understand all complicated info?
    • do personal values and biases effect what we tell our clients?
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Genetics (Peds)
2012-03-29 07:35:16

Genetics (Peds)
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