CMN 577: UNIT 1 - GENETIC DISORDERS
What age most frequently has AIP? - CORRECT ANSWER-18-40 years
T/F: Women have greater incidence of AIP than men - CORRECT
ANSWER-TRUE
What are the s/sx of AIP? - CORRECT ANSWER-1. intermittent abdominal pain
2. complete resolution of sx between attacks
3. neurological sx -- neuropathy (peripheral or autonomic)
4. nausea, constipation, urinary retention, muscle weakness, and dark (reddish)
urine
What are the neuropathy characteristics and sx of AIP? - CORRECT
ANSWER-asymmetric or bilateral
mild to severe
may cause respiratory dysfunction, quadriplegia, seizures, psychosis, and AMS
What labs (+/-) reflect AIP? - CORRECT ANSWER-1. significant hyponatremia
2. no fever and absence of leukocytosis
3. increased quantities of porphobilinogen found in the urine during an ACUTE
attack
4. Normal findings on US, XR, CAT scan, and MRI
What tests would you order on pt with AIP? - CORRECT ANSWER-24h urine
collection or random urine porphobilinogen level
What is the normal value for a typical 24h porphobilinogen level? - CORRECT
ANSWER-</= 2.5 mg
What is the normal value for a typical random urine porphobilinogen level? -
CORRECT ANSWER-</= 2.0 mg/L
T/F: Fresh urine may be clear and normal in color but will darken upon standing
for a brief period of time. - CORRECT ANSWER-TRUE
, What are some precipitating factors or exacerbating factors for AIP? - CORRECT
ANSWER-Smoking, ETOH use, stress, exposure to sunlight, dieting/fasting
Certain meds -- sulfa, barbiturates, hormones (estrogen/progesterone), e-mycin,
and spironolactone
What is the tx for AIP? - CORRECT ANSWER-GLUCOSE
High carb diet - at least 300 grams of carbs/day during acute attacks.
Hemin/Panhematin
When do you refer/hospitalize pt with AIP? - CORRECT ANSWER-Refer -- pt
with severe abd pain, mngt of seizurfes, or delusions
Hospitalize -- pt wtih an acute attack with delusions, seizures, hyponatremia, or
severe pain
Who is the incidence of Down Syndrome highest in? - CORRECT
ANSWER-Mothers starting at age 35-45
Odds increase to 1 in 40
T/F: Paternal age is also a factor in the risk for Down Syndrome. - CORRECT
ANSWER-FALSE -- Less risk for males with advanced age to father a child with
Downs
How is Downs dx during the pregnancy? - CORRECT ANSWER-prenatal
screenings: US, amniotic fluid, CV sampling, AFP analysis
What is the dx of Down Syndrome? - CORRECT ANSWER-3 copies of the 21st
chromosome or an abnormality that replicates a portion of the long arm of
Chromosome 21 creating 3 copies.
How is the Downs dx made at birth? - CORRECT ANSWER-craniofacial features
(flat occiput), presence of epicanthal folds, and large or protruding tongue,
hypotonia, and a single (as opposed to 3) palmar crease.
What 2 congenital defects are often present at birth with Down's? - CORRECT
ANSWER-Congenital heart disease
Duodenal atresia
What age most frequently has AIP? - CORRECT ANSWER-18-40 years
T/F: Women have greater incidence of AIP than men - CORRECT
ANSWER-TRUE
What are the s/sx of AIP? - CORRECT ANSWER-1. intermittent abdominal pain
2. complete resolution of sx between attacks
3. neurological sx -- neuropathy (peripheral or autonomic)
4. nausea, constipation, urinary retention, muscle weakness, and dark (reddish)
urine
What are the neuropathy characteristics and sx of AIP? - CORRECT
ANSWER-asymmetric or bilateral
mild to severe
may cause respiratory dysfunction, quadriplegia, seizures, psychosis, and AMS
What labs (+/-) reflect AIP? - CORRECT ANSWER-1. significant hyponatremia
2. no fever and absence of leukocytosis
3. increased quantities of porphobilinogen found in the urine during an ACUTE
attack
4. Normal findings on US, XR, CAT scan, and MRI
What tests would you order on pt with AIP? - CORRECT ANSWER-24h urine
collection or random urine porphobilinogen level
What is the normal value for a typical 24h porphobilinogen level? - CORRECT
ANSWER-</= 2.5 mg
What is the normal value for a typical random urine porphobilinogen level? -
CORRECT ANSWER-</= 2.0 mg/L
T/F: Fresh urine may be clear and normal in color but will darken upon standing
for a brief period of time. - CORRECT ANSWER-TRUE
, What are some precipitating factors or exacerbating factors for AIP? - CORRECT
ANSWER-Smoking, ETOH use, stress, exposure to sunlight, dieting/fasting
Certain meds -- sulfa, barbiturates, hormones (estrogen/progesterone), e-mycin,
and spironolactone
What is the tx for AIP? - CORRECT ANSWER-GLUCOSE
High carb diet - at least 300 grams of carbs/day during acute attacks.
Hemin/Panhematin
When do you refer/hospitalize pt with AIP? - CORRECT ANSWER-Refer -- pt
with severe abd pain, mngt of seizurfes, or delusions
Hospitalize -- pt wtih an acute attack with delusions, seizures, hyponatremia, or
severe pain
Who is the incidence of Down Syndrome highest in? - CORRECT
ANSWER-Mothers starting at age 35-45
Odds increase to 1 in 40
T/F: Paternal age is also a factor in the risk for Down Syndrome. - CORRECT
ANSWER-FALSE -- Less risk for males with advanced age to father a child with
Downs
How is Downs dx during the pregnancy? - CORRECT ANSWER-prenatal
screenings: US, amniotic fluid, CV sampling, AFP analysis
What is the dx of Down Syndrome? - CORRECT ANSWER-3 copies of the 21st
chromosome or an abnormality that replicates a portion of the long arm of
Chromosome 21 creating 3 copies.
How is the Downs dx made at birth? - CORRECT ANSWER-craniofacial features
(flat occiput), presence of epicanthal folds, and large or protruding tongue,
hypotonia, and a single (as opposed to 3) palmar crease.
What 2 congenital defects are often present at birth with Down's? - CORRECT
ANSWER-Congenital heart disease
Duodenal atresia
