CMN 577 Unit 1 Questions with 100% Correct
Answers
Acute Intermittent Porphyria - Overview
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
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
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
Avoid known triggers, especially barbiturates and sulfonamides. See Table 40-1 on 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
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
Characteristic facial features include flat occiput, epicanthal folds, single palmar crease, and a
large 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
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 without extra or missing information) has a higher risk of having additional
children with Down Syndrome.
Down Syndrome - Treatment
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
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
Males: mental retardation, autism spectrum disorders along with impulsivity, repetitive and
aggressive behaviors. After puberty, the testes are enlarged (macro-orchidism). Other
, physical findings include large ears, a more prominent jaw, and high pitched voice.
Females: the only physical signs are early menopause (ovarian failure). Mental retardation
may be present but learning disabilities, and sensory issues (think of the autism spectrum).
If there is moderate trinucleotide repetition (55 to 200 copies), the patient is a permutation
carrier. In females there is a higher risk for premature menopause as well as mild cognitive
impairment. Both males and females are subject to mood disorders, including anxiety, as well
as tremor and ataxia after middle age.
Fragile X - Labs & Imaging
Evaluation for the number of trinucleotide repeats near the FMR1 gene should be done on
any male or female with unexplained mental retardation. Everyone has some repeats but the
higher the number (past 52), the greater the chances of passing this onto future generations if
reproduction occurs.
Fragile X - Treatment
Symptomatic treatment of behaviors along with supportive care, counseling, and educational
assistance as indicated.
Klinefelter Syndrome - Overview
Klinefelter Syndrome is associated with the 47,XXY karyotype; males have an extra X
chromosome. It is estimated that Klinefelter Syndrome affects 1 in 660 males but is often not
discovered (or diagnosed) until the male is evaluated for infertility issues.
Klinefelter Syndrome - S/S
After puberty, symptoms include height greater than their peers (long arms and legs that are
disproportionate to their body), small testes, gynecomastia, sparse body hair, and a female
escutcheon (pubic hair growth pattern- female being flat topped rather than a peak towards
Answers
Acute Intermittent Porphyria - Overview
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
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
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
Avoid known triggers, especially barbiturates and sulfonamides. See Table 40-1 on 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
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
Characteristic facial features include flat occiput, epicanthal folds, single palmar crease, and a
large 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
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 without extra or missing information) has a higher risk of having additional
children with Down Syndrome.
Down Syndrome - Treatment
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
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
Males: mental retardation, autism spectrum disorders along with impulsivity, repetitive and
aggressive behaviors. After puberty, the testes are enlarged (macro-orchidism). Other
, physical findings include large ears, a more prominent jaw, and high pitched voice.
Females: the only physical signs are early menopause (ovarian failure). Mental retardation
may be present but learning disabilities, and sensory issues (think of the autism spectrum).
If there is moderate trinucleotide repetition (55 to 200 copies), the patient is a permutation
carrier. In females there is a higher risk for premature menopause as well as mild cognitive
impairment. Both males and females are subject to mood disorders, including anxiety, as well
as tremor and ataxia after middle age.
Fragile X - Labs & Imaging
Evaluation for the number of trinucleotide repeats near the FMR1 gene should be done on
any male or female with unexplained mental retardation. Everyone has some repeats but the
higher the number (past 52), the greater the chances of passing this onto future generations if
reproduction occurs.
Fragile X - Treatment
Symptomatic treatment of behaviors along with supportive care, counseling, and educational
assistance as indicated.
Klinefelter Syndrome - Overview
Klinefelter Syndrome is associated with the 47,XXY karyotype; males have an extra X
chromosome. It is estimated that Klinefelter Syndrome affects 1 in 660 males but is often not
discovered (or diagnosed) until the male is evaluated for infertility issues.
Klinefelter Syndrome - S/S
After puberty, symptoms include height greater than their peers (long arms and legs that are
disproportionate to their body), small testes, gynecomastia, sparse body hair, and a female
escutcheon (pubic hair growth pattern- female being flat topped rather than a peak towards
