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Disease (HTH 330) > Genetic and Pediatric Disorders- Chapter 18 > Flashcards

Genetic and Pediatric Disorders- Chapter 18 Flashcards

1
Q

Human Genome Project

A

mapping of entire human DNA sequence, 2003

ethical, legal, and social issues continue to be explored

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2
Q

Genes

A

each human cell hold approximately 50,000 genes

lifestyle can express genes

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3
Q

Genetic Disorders

A

no active or mutated
inherited predisposition or susceptibility to certain diseases
initiating factors may be influenced by lifestyle choices
not all genes are expressed in each cell, cells determine which get expressed

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4
Q

autosomal dominant

A

only one parent has to pass the abnormal gene, if passed it will be expressed

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5
Q

autosomal recessive-

A

both parents have to pass abnormal gene, has to occur on both pair of chromosomes

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6
Q

x linked recessive-

A

linked to sex chromosome, usually occurs in males; discrepancy will be expressed because only x

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7
Q

aminocentesis-

A

ultra sound, needle inserted through abdomen into uterus, fluid is drawn for analysis

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8
Q

chorionic villus sampling

A

around fetus, tissue contains DNA

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9
Q

Huntington’s Chorea

A

autosomal dominant, inherited CNS disease

highest suicide rate of all genetic disorders

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10
Q

Huntington’s Chorea- predisposing factors

A

50% chance inherit from one parent
75% both parents carry trait
5-10 per 100,000

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11
Q

Huntington’s Chorea- symptoms

A

momentary loss of balance
severe uncontrolled movements
loss of mental competence
change in personality

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12
Q

Huntington’s Chorea prevention

A

unknown, no warning signals

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13
Q

Huntington’s Chorea treatment

A

no known cure

drugs to help control movements

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14
Q

cystic fibrosis

A

inherited disease of exocrine glands
Autosomal Recessive
sweat glands, salivary glands, mammary glands, stomach, liver, pancreas
kills more children than any other disease

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15
Q

cystic fibrosis predisposing factors

A

central european ancestry, inbreeding

both parents carry gene, 25% inheriting it

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16
Q

cystic fibrosis symptoms

A 
abnormal mucus secretion, blocking bowels and lungs
chronic lung infection
heat intolerance
hypertension 
cirrhosis
inability to sweat
problem digesting fat
periodic infections
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17
Q

cystic fibrosis prevention

A

unknown, can’t alter genetics

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18
Q

cystic fibrosis treatment

A

gene manipulation before birth
breathing exercises, PT, postural drainage
antibiotics
air conditioner and humidifier usage

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19
Q

Phenylketonuria

A

Autosomal Recessive Disorders
amino acid naturally found in breast milk
closely related to dopamine, epinephrine and tyrosine
build up can cause mental retardation
inability to break down and digest, builds up

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20
Q

Phenylketonuria- predisposing factors

A

higher among celtic origin and central Europeans

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21
Q

Phenylketonuria - symtoms

A 
no signs shown at birth
neurological disturbances at 4 months
eczema
steep decline in IQ in first year
epilepsy 
seizure, something wrong with CNS
phenylaline stored in skin, musty smell
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22
Q

Phenylketonuria- prevention

A

early screening for PKU- blood test

early treatment can minimize damage

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23
Q

Phenylketonuria - treatment

A

eliminate phenlyalanine from diet

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24
Q

Sickle Cell Anemia

A

autosomal recessive
Autosomal Recessive
blood cells unable to carry sufficient oxygen due altered shape
trait may be protection from malaria

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25
Q

Sickle Cell Anemia Predisposing factors

A

typically african ancestry are carriers- not express

26
Q

Sickle Cell Anemia symptoms

A 
heart problems
fatigue
breathlessness during activity
joint swelling
leg ulcers
27
Q

Sickle Cell Anemia prevention

A

unknown

28
Q

Sickle Cell Anemia treatment

A

hospitalization for transfusion
hydroxyurea
proper nutrition
stress management

29
Q

Hemophilia A

A

x linked recessive
deficiency of certain clotting factors
higher prevelance in males

30
Q

Hemophilia A predisposing factors

A

mother have 50% chance passing it to sons

daughters are typically only carriers

31
Q

Hemophilia A symptoms

A

pain accompanying bleeding
often hemorrhage into joints and muscles
mild cases may not be noticed until major trauma occurs

32
Q

Hemophilia A prevention

A

avoid activities with risk of injuries

33
Q

Hemophilia A treatment

A

hospitalization for transfusion

infusions of missing clotting factors

34
Q

Down Syndrome

A

Chromosomal abnormalities- too little or too many

possession of 47 chromosomes instead of 46

35
Q

Down Syndrome predisposing factors

A

age of mother at birth, over 35 yr old
1 in 800 births
21st pair

36
Q

Down Syndrome symptoms

A 
mental retardation
specific facial features
heart disease, pelvic bone abnormalities
very susceptible to leukemia and chromic infections
blonde hair, blue eyes
37
Q

Down Syndrome prevention

A

unknown

38
Q

Down Syndrome treatment

A

no known cure
surgery for heart defects
antibiotics for infections, prophylactically

39
Q

Klinefelter’s Syndrome

A

chromosomal abnormalities
males
possession of one or more extra X chromosomes
males XXY

40
Q

Turners Syndrome

A

females, X only

gender development abnormalities

41
Q

Klinefelter’s Syndrome predisposing factors

A

increases with age of mother

42
Q

Turners Syndrom predisposing factors

A

increases with age of mother

43
Q

Klinefelter’s Syndrome symptoms

A

infertility, small penis, prostate
sparse facial and abdominal hair
always infertile

44
Q

Turners Syndrome symptoms

A

females lack development, male structure, infertility

45
Q

Turners and Klinefelter’s Syndrome prevention

A

unknown

46
Q

Klinefelter’s Syndrome treatment

A

hormone therapy, psychotherapy

47
Q

Fetal Alcohol Syndrome predisposing factors

A

pregnant woman who consumes alcohol

first 3 months of pregnancy are especially damaging

48
Q

Fetal Alcohol Syndrome

A

fetus liver incompetent to process alcohol, alcohol sits around brain

49
Q

Fetal Alcohol Syndrome symptoms

A 
low birth rate
learning disabilities
hearing abnormalities
distinctive facial features
infant irritability due to alcohol withdrawal
ears small, flat affect
50
Q

Fetal Alcohol Syndrome prevention

A

abstaining from alcohol during pregnancy during pregnancy or if trying to get pregnant

51
Q

Fetal Alcohol Syndrome treatment

A

depends on type and extent of defects

defects can be corrected but mental and physical retardation last for life

52
Q

Respiratory Distress Syndrome

A

surfactant one of last chemicals to be turned on before birth, not met critical point yet

53
Q

Respiratory Distress Syndrome predisposing factors

A

deficiency of surfactant, which keep alveoli open, open found in premature babies

54
Q

Respiratory Distress Syndrome symptoms

A

grunting noises when breathing

may turn blue

55
Q

Respiratory Distress Syndrome prevention

A

prenatal care to carry full term

56
Q

Respiratory Distress Syndrome treatment

A

babies must be kept in intensive care to receive oxygen

endotracheal tube

57
Q

Sudden death infant syndrome

A

no outward symptoms, unexplainable cause, usually happens at night
most common cause of death for infants 1 month to 1 yr in US (3/4) under 6 mo

58
Q

Sudden infant death syndrome predisposing factors

A 
prematurity
low birth weight
bottle feeding
cold weather
poor maternal health
poor living environment
really unknown
59
Q

Sudden infant death syndrome symptoms

A

none are commonly apparent
mild cold symptoms
unexplained weight loss

60
Q

Sudden infant death syndrome prevention

A

infants who sleep on their backs less likely to have SIDS

61
Q

Sudden infant death syndrome treatment

A

none

Disease (HTH 330) (4 decks)

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