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Genetic Alterations

Genetic Alterations. Comp care and beyond………. Certification Review July 2007. 46 Chromosomes (23 pairs). XX female XY male. Autosomal diseases and disorders. Dominant –only one gene needed to be passed on from a parent. Recessive- a gene is passed on from each parent. Dominant disorders.

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Genetic Alterations

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  1. Genetic Alterations Comp care and beyond………. Certification Review July 2007

  2. 46 Chromosomes (23 pairs) • XX female • XY male

  3. Autosomal diseases and disorders • Dominant –only one gene needed to be passed on from a parent. • Recessive- a gene is passed on from each parent.

  4. Dominant disorders • Huntington Disease • Osteogenesis imperfecta • Neurofibromatosis • Night blindness

  5. Huntington Disease • Very rare • Degeneration of neuronal cells • S/S -loss of facial expression • -jerky, random movements • -bradykinesia • -dystonia

  6. Huntington Disease • DX: Blood test • Nursing Measures Nutritional support…burn more calories with jerky movements Thicken po intake MEDS: dopamine receptor blockers or serotonin reuptake inhibitors

  7. Huntington Disease • Poor prognosis • Usually die due to infection (pneuomonia) • Many fall related injuries • Suicide

  8. Neurofibromatosis • Affect the growth of neural cells • Treat the symptoms (usually pain related) • Can live normal lives

  9. Osteogenesis Imperfecta • Body not producing protein collagen • Type I mult. fx before puberty blue sclera • triangular shaped face • Type II very severe • causes death in infants • Type III short (about 3 ft. tall) • blue, purple or gray sclera • barrel-shaped chest

  10. Nyctalopia (night blindness) • From rod cells in the retina not able to adjust to light • Nursing Measure: • Psychosocial support • No night driving/social isolation • Depression

  11. Autosomal recessive diseases • Cystic Fibrosis • Sickle cell anemia • Phenylketonuria (PKU) • Tay-Sachs disease • Albinism

  12. Cystic Fibrosis • Affects lungs and absorption of food • Thick secretions • Salty skin • Lung illnesses • Greasy stools • Thick secretions

  13. Cystic Fibrosis • Pulmonary toileting • Support respiratory system • Dietary supplements • Electrolyte issues • Psychosocial issues (chronic illness) • Multiple hospitalizations • Lung transplant

  14. Sickle Cell Disease • Sickle shaped Hemoglobin (Hemoglobin s) • Normal Hgb live 120 days • Sickled Hgb live 16 days • Sickle cell trait (AS)

  15. Sickle cell disease • Signs and symptoms • Puffy hands and feet • Pain • Jaundice • Gallstones • Chest pain • Stroke • Sick with bacterial infections

  16. Sickle cell disease • Treatment • Antibiotics • Pain meds • Blood transfusion • Spleen removed • Respiratory support

  17. PKU • Diagnoses with a new born screening (filling in the 3 circles) • Enzyme missing • Causes mental retardation • Vomiting, increased muscle tone, widely spaced teeth, and seizure.

  18. PKU • Avoid: • Pop (check the can) • Meat • Fish • Eggs • Cheese • Milk • peas

  19. Tay- Sachs • Lipid storage disorder • Missing beta-hexosaminidase A (enzyme) • After 3 mths of age…mentally and physically deteriorate. • Blind, deaf, poor muscle tone, seizure, cherry red spot on the retina, psych disorders

  20. Tay-Sachs • Eastern European • Ashkenazi Jewish decent • French Canadians of Quebec • Cajuns of South Louisiana

  21. Tay-Sachs Disease • Nursing interventions • Supportive treatment • Usually die by 4 years of age • Very rare • One of the first diseases to have successful, inexpensive testing.

  22. Albinism • Lack of melanin (no color) • Prone to skin cancer. May have pink colored eyes. May have nystagmus or strabismus. • Modern folklore in Zimbabwe: sex with an albinistic person will cure AIDS. • Problem: multiple rapes

  23. Genetic Sex Linked (X-linked) recessive diseases • Fathers pass this on to their daughters • Carried on the X chromosome and passed on by women

  24. X-linked recessive diseases • Hemophilia • Color blindness • Muscular dystrophy • Glucose -6-phosphate dehydrogenase (G-6-PD) deficiency

  25. Hemophilia A (Factor 8) • Effects 1 in 5,000 males • Located on the X chromosome • Longer clotting time • Genetic counseling • No rough contact sports • TX: factor 8 or DDAVP

  26. Color Blindness (Dyschromatopsia) • Problems with the cones of the eye • Learning colors • No “cure” • Assistance with clothing (adolescence) • Difficulty driving

  27. Duchenne Muscular Dystrophy • Usually passed from mother to son • A mutation can happen and a female can have this disease • Progressive muscle weakness • Heart, lung, muscular skeletal problems • Poor tone and aspiration • No cure/ use supportive treatments • Usually don’t live over 20 yrs.

  28. Glucose-6-phosphhate dehydrogenase deficiency • This enzyme breaks down RBCs. • (hemolysis causing anemia) • 10-14% of the black, male population • Drugs can bring on this hemolysis reaction • -Aspirin • -NSAIDs • -Nitrofurantoin • -quinidine

  29. Glucose-6-phosphhate dehydrogenase deficiency • TX: avoid those listed drugs • blood transfusions • spleen removed

  30. Chromosomal disorders • Down syndrome • Turner syndrome • Klinefelter syndrome

  31. Down syndrome • Trisomy 21-extra chromosome in every cell • Mosaic trisomy 21 –extra chromosome in some cells • Translocation trisomy 21 –some of chromosome 21 attached to 14

  32. Down syndrome • Prenatal testing • - “the triple screen” -amniocentesis -PUBS percutaneous umbilical blood sampling

  33. Down syndrome • Simian crease in palm • Poor muscle tone • Heart problems • Reflux (poor muscle tone) • Mentally retarded • Low set ears • Wide spaced eyes • Increased risk for downs with increased age

  34. Turner syndrome • Only in females • DX with amniocentesis • Only 1 X chromosome is fully functioning therefore, always a female. • Underdeveloped sex characteristics, short, low hair line, no menses, cardiovascular malformations. • TX: hormones, supportive treatment

  35. Klinefelter Syndrome • Only in males • Extra X chromosome • Usually infertile • Tall, thin, learning disability, not hitting puberty • TX: Testosterone therapy • Will have a normal life

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