Genetic and Pediatric Disorders- Chapter 18 Flashcards
Human Genome Project
mapping of entire human DNA sequence, 2003
ethical, legal, and social issues continue to be explored
Genes
each human cell hold approximately 50,000 genes
lifestyle can express genes
Genetic Disorders
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
autosomal dominant
only one parent has to pass the abnormal gene, if passed it will be expressed
autosomal recessive-
both parents have to pass abnormal gene, has to occur on both pair of chromosomes
x linked recessive-
linked to sex chromosome, usually occurs in males; discrepancy will be expressed because only x
aminocentesis-
ultra sound, needle inserted through abdomen into uterus, fluid is drawn for analysis
chorionic villus sampling
around fetus, tissue contains DNA
Huntington’s Chorea
autosomal dominant, inherited CNS disease
highest suicide rate of all genetic disorders
Huntington’s Chorea- predisposing factors
50% chance inherit from one parent
75% both parents carry trait
5-10 per 100,000
Huntington’s Chorea- symptoms
momentary loss of balance
severe uncontrolled movements
loss of mental competence
change in personality
Huntington’s Chorea prevention
unknown, no warning signals
Huntington’s Chorea treatment
no known cure
drugs to help control movements
cystic fibrosis
inherited disease of exocrine glands
Autosomal Recessive
sweat glands, salivary glands, mammary glands, stomach, liver, pancreas
kills more children than any other disease
cystic fibrosis predisposing factors
central european ancestry, inbreeding
both parents carry gene, 25% inheriting it
cystic fibrosis symptoms
abnormal mucus secretion, blocking bowels and lungs chronic lung infection heat intolerance hypertension cirrhosis inability to sweat problem digesting fat periodic infections
cystic fibrosis prevention
unknown, can’t alter genetics
cystic fibrosis treatment
gene manipulation before birth
breathing exercises, PT, postural drainage
antibiotics
air conditioner and humidifier usage
Phenylketonuria
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
Phenylketonuria- predisposing factors
higher among celtic origin and central Europeans
Phenylketonuria - symtoms
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
Phenylketonuria- prevention
early screening for PKU- blood test
early treatment can minimize damage
Phenylketonuria - treatment
eliminate phenlyalanine from diet
Sickle Cell Anemia
autosomal recessive
Autosomal Recessive
blood cells unable to carry sufficient oxygen due altered shape
trait may be protection from malaria
Sickle Cell Anemia Predisposing factors
typically african ancestry are carriers- not express
Sickle Cell Anemia symptoms
heart problems fatigue breathlessness during activity joint swelling leg ulcers
Sickle Cell Anemia prevention
unknown
Sickle Cell Anemia treatment
hospitalization for transfusion
hydroxyurea
proper nutrition
stress management
Hemophilia A
x linked recessive
deficiency of certain clotting factors
higher prevelance in males
Hemophilia A predisposing factors
mother have 50% chance passing it to sons
daughters are typically only carriers
Hemophilia A symptoms
pain accompanying bleeding
often hemorrhage into joints and muscles
mild cases may not be noticed until major trauma occurs
Hemophilia A prevention
avoid activities with risk of injuries
Hemophilia A treatment
hospitalization for transfusion
infusions of missing clotting factors
Down Syndrome
Chromosomal abnormalities- too little or too many
possession of 47 chromosomes instead of 46
Down Syndrome predisposing factors
age of mother at birth, over 35 yr old
1 in 800 births
21st pair
Down Syndrome symptoms
mental retardation specific facial features heart disease, pelvic bone abnormalities very susceptible to leukemia and chromic infections blonde hair, blue eyes
Down Syndrome prevention
unknown
Down Syndrome treatment
no known cure
surgery for heart defects
antibiotics for infections, prophylactically
Klinefelter’s Syndrome
chromosomal abnormalities
males
possession of one or more extra X chromosomes
males XXY
Turners Syndrome
females, X only
gender development abnormalities
Klinefelter’s Syndrome predisposing factors
increases with age of mother
Turners Syndrom predisposing factors
increases with age of mother
Klinefelter’s Syndrome symptoms
infertility, small penis, prostate
sparse facial and abdominal hair
always infertile
Turners Syndrome symptoms
females lack development, male structure, infertility
Turners and Klinefelter’s Syndrome prevention
unknown
Klinefelter’s Syndrome treatment
hormone therapy, psychotherapy
Fetal Alcohol Syndrome predisposing factors
pregnant woman who consumes alcohol
first 3 months of pregnancy are especially damaging
Fetal Alcohol Syndrome
fetus liver incompetent to process alcohol, alcohol sits around brain
Fetal Alcohol Syndrome symptoms
low birth rate learning disabilities hearing abnormalities distinctive facial features infant irritability due to alcohol withdrawal ears small, flat affect
Fetal Alcohol Syndrome prevention
abstaining from alcohol during pregnancy during pregnancy or if trying to get pregnant
Fetal Alcohol Syndrome treatment
depends on type and extent of defects
defects can be corrected but mental and physical retardation last for life
Respiratory Distress Syndrome
surfactant one of last chemicals to be turned on before birth, not met critical point yet
Respiratory Distress Syndrome predisposing factors
deficiency of surfactant, which keep alveoli open, open found in premature babies
Respiratory Distress Syndrome symptoms
grunting noises when breathing
may turn blue
Respiratory Distress Syndrome prevention
prenatal care to carry full term
Respiratory Distress Syndrome treatment
babies must be kept in intensive care to receive oxygen
endotracheal tube
Sudden death infant syndrome
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
Sudden infant death syndrome predisposing factors
prematurity low birth weight bottle feeding cold weather poor maternal health poor living environment really unknown
Sudden infant death syndrome symptoms
none are commonly apparent
mild cold symptoms
unexplained weight loss
Sudden infant death syndrome prevention
infants who sleep on their backs less likely to have SIDS
Sudden infant death syndrome treatment
none
