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65 Cards in this Set
- Front
- Back
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SCID
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severe combined immunodeficiency disorder
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what are the characteristics of SCID
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primary immunodeficiency
autosomal and sex-linked reces severe lack of B and T lymphs |
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why are children with SCID more at risk for continuous infections
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cant set up immune response to past infections
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if tx is not done for SCID what happens
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typically die w/in first yr of life
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most common dx for SCID
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recurring and persistent infections
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why is it difficult to document immunoglobulin deficiency
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bc infants already have delay in producing own immunoglobulins
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tx for SCID
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stem cell transplant from HLA
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who can tx of SCID come from
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matched sibling
haplo-identical graft (parent) matched unrelated donor |
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other than HLA, what are tx options for SCID
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protection from infection
IVIG antibiotic prophylaxis |
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why is antibiotic prophylaxis req'd for SCID
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done before transplant
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why is leukocyte reduced blood used for SCID
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to prevent potential infections
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cannot be given with SCID
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live vaccines
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type of blood to be given to kids with SCID
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irradiated to remove potential infections
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how is retrovirus for HIV transmitted
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lymphocyte/monocyte in blood
semen vaginal secretions brst milk |
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what does HIV primarily effect
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CD4 T lymphs
monocytes macrophages |
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HIV has profound effects on what
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humoral and cell-mediated immunity
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what happens if HIV is untreated
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generalized immune incompetence over yrs
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if one has HIV do they have AIDS
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no, only the virus is present
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dx for HIV >18mths
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HIV ELISA
western blot immunoassay |
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dx for HIV < 18 mths
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HIV PCR for proviral DNA
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classification system for HIV is based on what
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severity of S&S
degree of immunosuppression |
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clinical manifestations of HIV
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lymphadenopathy
hepatospleenomegaly oral candidiasis chronic or recurrent diarrhea FTT otitis sinusitis |
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what are most sx of HIV related to
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medications
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tx for HIV
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meds to suppress viral replicat
lifelong therapy sx support antibiotics |
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what antibiotic prophylaxis are given for HIV
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PCP
batrim pentomodine immunioglobulin |
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PCP
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pnemocystis carinii prophylaxis
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what does IVIG help do
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boost immunity
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nsg care for HIV
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protect from infection
nutrition no live viruses med adjustment for diarrhea monitor growth |
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autosomal recessive disorder leads liver enzyme deficiency
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galactosemia
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what is galactose 1-phosphate uridytransferase
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involved in converting galactose to glucose
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dx for galactosemia
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newborn screening
galactosuria elevated blood galactose levels malnutrition |
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results from malnutrition in with galactosemia
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decreased muscle mass and fat
dehydration |
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tx for galactosemia
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no milk or lactose containing formulas (and brst milk)
lactose-free formula (soy) solids (low galactose) |
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nsg care for galactosemia
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education
monitor blood levels mtr liver function and bleeding |
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kids with galactosemia are prone to what
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ecoli sepsis
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longterm galactosemia may result in what
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cognitive delays
cataracts ovarian dysfunction |
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PKU
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phenylketonuria
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what is PKU
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autosomal recessive inborn error of metabolism
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more likely to have PKU
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blond hai
blue eyes fair skin w/ dermatologic problems |
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S&S of PKU
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FTT
musty urine irritability hyperactivity MR aberrant behavior in older kids |
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what is absent with PKU
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hepatic enzyme that converts phenylalanine to tyrosine
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purpose of tyrosine
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needed for tissue development
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why is early dx and tx of PKU important
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prevents MR
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dx for PKU
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guthrie blood test
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tx for PKU
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restrict phenylalanine in diet
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why can phenylalanine not completely be eliminated
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essential amino acid
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ranges for phenylalanine
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neonates-12yrs 2-6mg
adolescents 2-10mg adults 2-15mg |
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phenylalanine free formula
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phenex 1
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if none compliant with PKU diet what happens
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increase in blood phenylalanine
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prepregnancy blood level for pheny
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<6 for 3mths prior to PG
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PHENEX 1 mixing
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mix to paste to decrease lumpiness
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trisomy 21
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down syndrome
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cases that have extra chromosome 21
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95%
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% with translocation chromosome 15 and 21 or 22 (hereditary)
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3-4%
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% with mosaicism
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1-2%
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what is mosaicism
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mix of normal and abnormal cell types
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dx of downs
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clinical manisfestations
genetic testing |
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clinical manisfestations of downs
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congenital heart defects (AV)
infection (URI/otitis) decreased immune function increased AML muscle hypotonicity hypothyroid |
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where does hypotonicity occur with downs
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chest and abd
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common facial features with downs
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flat bridge in b/w eyes
slanted eyes (up and out) dry skin short thick neck brushfield spots large tongues |
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what are brushfield spots
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whitish spots on iris
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mouth and hand features of with downs
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open mouth
large tongue high narrow palate small ears small genetalia stubby hands short stature |
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nsg care of downs
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cardiac repairs
leukemia for AML protect resp function up to date immunizations feedings prevent constipation skin care |
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should be avoided with downs
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large crowds to prevent infection
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community and family facts with downs
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early intervention programs
mainstreaming family coping increasing life expectancy |
