1
CMN 577 Unit 1 Questions with Correct
Answers | Updated (100% Correct Answers)
Acute Intermittent Porphyria - Overview Answer: Acute Intermittent
Porphyria (AIP) typically presents in adulthood and in females
instead of males. Onset after menopause is rare but possible. Earlier
onset in late teens or early 20s is more common. The use of drugs
along with intermittent infections are precipitating factors; keep in
mind that there are many triggers.
Acute Intermittent Porphyria - S/S Answer: Intermittent abdominal
pain (varying degrees of pain) that recurs without leukocytosis or
fever. The pain typically resolves completely between attacks. Other
symptoms include peripheral neuropathy, seizures, altered level of
consciousness, and even psychosis.
Acute Intermittent Porphyria - Labs & Imaging Answer: A CMP is
useful to rule out elevated LFTs and to evaluate for profound
hyponatremia (common finding). The finding of elevated levels of
porphobilinogen in the urine during an acute attack is diagnostic for
AIP. Note that the urine may be clear/normal in color when first
voided but will turn dark upon being exposed to air and light.
Acute Intermittent Porphyria - Treatment Answer: Avoid known
triggers, especially barbiturates and sulfonamides. See Table 40-1 on
© 2025 All rights reserved
,2
page 1691 (Papadakis and McPhee, 2018) for additional
medications. Starvation or other low carbohydrate diets (including
prolonged fasts) can exacerbate or trigger symptoms.
A high carbohydrate diet is effective in many patients and is an easy
treatment option. A high carbohydrate diet consists of a minimum
of 300 grams of carbohydrates per day.
A patient with AIP who is considering pregnancy should be referred
for counseling. A patient with seizures, hyponatremia, or mental
status changes should be hospitalized for treatment.
I have included an article from Medscape regarding AIP for you to
review and provide a better understanding of the disease. It is a
short article but helpful. You can find it under the lessons for
Genetic Disorders.
Down Syndrome- Overview Answer: Three copies of chromosome
21 (trisomy 21) or an arrangement of chromosomes that creates
three copies of the long arm of chromosome 21.
Incidence is about 1/700 births (depending on your source, 1/800 or
so) but the risk for Down Syndrome increases as the maternal age
does.
Down Syndrome - S/S Answer: Characteristic facial features include
flat occiput, epicanthal folds, single palmar crease, and a large
© 2025 All rights reserved
,3
tongue. Other common findings include heart defects (congenital
such as AV canal defects), duodenal atresia, hearing impairment,
and intellectual disabilities. Visual deficits are common as well.
Short term memory loss, similar to (if not actually) Alzheimer's,
begins as early as forty years of age. The earlier the onset of
dementia, the shorter the life span.
Down Syndrome - Labs & Imaging Answer: Multiple Marker
Screening (MMS) - also known as the triple screen- may be
performed between 15 and 20 weeks of gestation. This evaluates for
Down Syndrome, neural tube defects (such as spina bifida and
anencephaly), multiple fetuses, and to evaluate the pregnancy
timeline or progression (is it as far along as it should be). The test
evaluates alpha-fetoprotein (AFP), hCG, and estriol. Elevated levels of
of AFP are associated with neural tube defects. Abnormal AFP levels
raise concerns for trisomy disorders such as Down Syndrome (low
AFP) and Trisomy 18 (low AFP). Low estriol is found in both Down
Syndrome and Trisomy 18. Inhibin A is elevated in Trisomy 21 and is
normal in Trisomy 18. Further confirmatory testing, including
amniocentesis, is needed.
Cytogenomic analysis should be performed to look for unbalanced
translocations. A parent with balanced translocations (an even/equal
exchange of genetic material that allows for full functionality
© 2025 All rights reserved
, 4
without extra or missing information) has a higher risk of having
additional children with Down Syndrome.
Down Syndrome - Treatment Answer: Surgery as indicated for
congenital defects- patients typically do well with this type of
intervention. Monitor for hypothyroidism, symptoms of dementia
(early or late), and for leukemia. Patients with Down Syndrome have
a higher childhood risk for acute lymphoblastic and myeloid
leukemias. There may be an impairment of the immune system,
therefore increasing the risk for infection(s). Celiac disease and
atlanto-axial instability (remember your M/S unit last semester?) are
also possible complications that should be monitored.
Fragile X - Overview Answer: This genetic disorder has the highest
number of mental retardation cases in males other than Down
Syndrome. The incidence, according to Hay 23rd edition, is
approximately 1 in 1000 males. (Interesting note- Papadakis and
McPhee, 2018, states the rate is 1 in 4000 males p. 1693). The
occurrence in females is approximately 50% less than males.
The FMR1 gene has expanded trinucleotide repetition with more
than 200 copies being present.
Fragile X - S/S Answer: Males: mental retardation, autism spectrum
disorders along with impulsivity, repetitive and aggressive behaviors.
After puberty, the testes are enlarged (macro-orchidism). Other
© 2025 All rights reserved
CMN 577 Unit 1 Questions with Correct
Answers | Updated (100% Correct Answers)
Acute Intermittent Porphyria - Overview Answer: Acute Intermittent
Porphyria (AIP) typically presents in adulthood and in females
instead of males. Onset after menopause is rare but possible. Earlier
onset in late teens or early 20s is more common. The use of drugs
along with intermittent infections are precipitating factors; keep in
mind that there are many triggers.
Acute Intermittent Porphyria - S/S Answer: Intermittent abdominal
pain (varying degrees of pain) that recurs without leukocytosis or
fever. The pain typically resolves completely between attacks. Other
symptoms include peripheral neuropathy, seizures, altered level of
consciousness, and even psychosis.
Acute Intermittent Porphyria - Labs & Imaging Answer: A CMP is
useful to rule out elevated LFTs and to evaluate for profound
hyponatremia (common finding). The finding of elevated levels of
porphobilinogen in the urine during an acute attack is diagnostic for
AIP. Note that the urine may be clear/normal in color when first
voided but will turn dark upon being exposed to air and light.
Acute Intermittent Porphyria - Treatment Answer: Avoid known
triggers, especially barbiturates and sulfonamides. See Table 40-1 on
© 2025 All rights reserved
,2
page 1691 (Papadakis and McPhee, 2018) for additional
medications. Starvation or other low carbohydrate diets (including
prolonged fasts) can exacerbate or trigger symptoms.
A high carbohydrate diet is effective in many patients and is an easy
treatment option. A high carbohydrate diet consists of a minimum
of 300 grams of carbohydrates per day.
A patient with AIP who is considering pregnancy should be referred
for counseling. A patient with seizures, hyponatremia, or mental
status changes should be hospitalized for treatment.
I have included an article from Medscape regarding AIP for you to
review and provide a better understanding of the disease. It is a
short article but helpful. You can find it under the lessons for
Genetic Disorders.
Down Syndrome- Overview Answer: Three copies of chromosome
21 (trisomy 21) or an arrangement of chromosomes that creates
three copies of the long arm of chromosome 21.
Incidence is about 1/700 births (depending on your source, 1/800 or
so) but the risk for Down Syndrome increases as the maternal age
does.
Down Syndrome - S/S Answer: Characteristic facial features include
flat occiput, epicanthal folds, single palmar crease, and a large
© 2025 All rights reserved
,3
tongue. Other common findings include heart defects (congenital
such as AV canal defects), duodenal atresia, hearing impairment,
and intellectual disabilities. Visual deficits are common as well.
Short term memory loss, similar to (if not actually) Alzheimer's,
begins as early as forty years of age. The earlier the onset of
dementia, the shorter the life span.
Down Syndrome - Labs & Imaging Answer: Multiple Marker
Screening (MMS) - also known as the triple screen- may be
performed between 15 and 20 weeks of gestation. This evaluates for
Down Syndrome, neural tube defects (such as spina bifida and
anencephaly), multiple fetuses, and to evaluate the pregnancy
timeline or progression (is it as far along as it should be). The test
evaluates alpha-fetoprotein (AFP), hCG, and estriol. Elevated levels of
of AFP are associated with neural tube defects. Abnormal AFP levels
raise concerns for trisomy disorders such as Down Syndrome (low
AFP) and Trisomy 18 (low AFP). Low estriol is found in both Down
Syndrome and Trisomy 18. Inhibin A is elevated in Trisomy 21 and is
normal in Trisomy 18. Further confirmatory testing, including
amniocentesis, is needed.
Cytogenomic analysis should be performed to look for unbalanced
translocations. A parent with balanced translocations (an even/equal
exchange of genetic material that allows for full functionality
© 2025 All rights reserved
, 4
without extra or missing information) has a higher risk of having
additional children with Down Syndrome.
Down Syndrome - Treatment Answer: Surgery as indicated for
congenital defects- patients typically do well with this type of
intervention. Monitor for hypothyroidism, symptoms of dementia
(early or late), and for leukemia. Patients with Down Syndrome have
a higher childhood risk for acute lymphoblastic and myeloid
leukemias. There may be an impairment of the immune system,
therefore increasing the risk for infection(s). Celiac disease and
atlanto-axial instability (remember your M/S unit last semester?) are
also possible complications that should be monitored.
Fragile X - Overview Answer: This genetic disorder has the highest
number of mental retardation cases in males other than Down
Syndrome. The incidence, according to Hay 23rd edition, is
approximately 1 in 1000 males. (Interesting note- Papadakis and
McPhee, 2018, states the rate is 1 in 4000 males p. 1693). The
occurrence in females is approximately 50% less than males.
The FMR1 gene has expanded trinucleotide repetition with more
than 200 copies being present.
Fragile X - S/S Answer: Males: mental retardation, autism spectrum
disorders along with impulsivity, repetitive and aggressive behaviors.
After puberty, the testes are enlarged (macro-orchidism). Other
© 2025 All rights reserved
