CMN 577: Unit 1 Exam: Genetic Disorders
Acute intermittent porphyria (AIP):
Autosomal Dominant.
Presents mostly in adult females ages 18 - 40.
Elevated levels of porphobilinogen >6mg/L in urine is diagnostic.
Urine turns dark on exposure to air/light.
Hyponatremia common.
Treatment: 300grams carbs/or glucose daily.
Barbiturates & sulfonamides known triggers.
Phenobarbital or estrogens can provocate acute intermittent porphyria. True or
False?
True: in this case age can be outside of what is usually seen.
The predominant problem of AIP appears to be neurologic damage that leads to
what?
Peripheral and autonomic neuropathies and psychiatric manifestations.
What did the case study by Storjord et al find that AIP is associated with?
Systemic inflammation and reduced insulin release.
Manifestations of Acute intermittent porphyria:
1.Abdominal pain (severe epigastric and colicky pain for several days).
2.Psychiatric symptoms.
3. Neuropathies.
4. Constipation (and vomiting).
No rash like most porphyrias.
, A Swedish study found a fourfold increased risk of what in patients with AIP?
Schizophrenia and bipolar disorder. Also a twofold risk in relatives was identified
suggesting genetic influences.
Between attacks, patients with acute intermittent porphyria may be completely
free of symptoms, but chronic manifestations may occur in what percent of
patients?
20 to 64%.
Tachycardia, fever, hypertension, lower limb neuropathies and areflexia are
physical signs on presentation. Brain may show edema on MRI. Other imaging is
not useful.
Acute intermittent porphyria (AIP). Labs may indicate hyponatremia, syndrome of
inappropriate secretion of antidiuretic hormone, and mild leukocytosis.
What types of drugs are associated with porphyria?
Drugs that lead to increased activity of the hepatic P450 system; phenobarbital,
sulfonamides, estrogens, alcohol.
What did an observational study of acute porphyrias by Donkovsky et al find?
That the diagnosis of AIP was delayed by a mean of 15 years and many patients
had appendectomies or cholecyctectomies before their porphyria was diagnosed.
Down Syndrome:
Trisomy 21, risk increased with maternal age.
SS: flat occiput, epicanthal folds, single palmar crease, large tongue, heart
defects: AV canal defects, duodenal atresia, hearing impairment, intellectual
disabilities. Early onset memory loss and myeloid leukemias common.
Acute intermittent porphyria (AIP):
Autosomal Dominant.
Presents mostly in adult females ages 18 - 40.
Elevated levels of porphobilinogen >6mg/L in urine is diagnostic.
Urine turns dark on exposure to air/light.
Hyponatremia common.
Treatment: 300grams carbs/or glucose daily.
Barbiturates & sulfonamides known triggers.
Phenobarbital or estrogens can provocate acute intermittent porphyria. True or
False?
True: in this case age can be outside of what is usually seen.
The predominant problem of AIP appears to be neurologic damage that leads to
what?
Peripheral and autonomic neuropathies and psychiatric manifestations.
What did the case study by Storjord et al find that AIP is associated with?
Systemic inflammation and reduced insulin release.
Manifestations of Acute intermittent porphyria:
1.Abdominal pain (severe epigastric and colicky pain for several days).
2.Psychiatric symptoms.
3. Neuropathies.
4. Constipation (and vomiting).
No rash like most porphyrias.
, A Swedish study found a fourfold increased risk of what in patients with AIP?
Schizophrenia and bipolar disorder. Also a twofold risk in relatives was identified
suggesting genetic influences.
Between attacks, patients with acute intermittent porphyria may be completely
free of symptoms, but chronic manifestations may occur in what percent of
patients?
20 to 64%.
Tachycardia, fever, hypertension, lower limb neuropathies and areflexia are
physical signs on presentation. Brain may show edema on MRI. Other imaging is
not useful.
Acute intermittent porphyria (AIP). Labs may indicate hyponatremia, syndrome of
inappropriate secretion of antidiuretic hormone, and mild leukocytosis.
What types of drugs are associated with porphyria?
Drugs that lead to increased activity of the hepatic P450 system; phenobarbital,
sulfonamides, estrogens, alcohol.
What did an observational study of acute porphyrias by Donkovsky et al find?
That the diagnosis of AIP was delayed by a mean of 15 years and many patients
had appendectomies or cholecyctectomies before their porphyria was diagnosed.
Down Syndrome:
Trisomy 21, risk increased with maternal age.
SS: flat occiput, epicanthal folds, single palmar crease, large tongue, heart
defects: AV canal defects, duodenal atresia, hearing impairment, intellectual
disabilities. Early onset memory loss and myeloid leukemias common.
