Sweep 1 Flashcards
Marfan Syndrome- ——– disorder of connective tissue due mutation of the ——- gene, resulting in abnormal —–,
Autosomal dominant, FBN1, fibrillin
Fibrillin:
a glycoprotein necessary for normal elastic fiber production.
• Familial Hypercholesterolemia- Mutation in the gene for the ——. results in ——————–.
LDL (low density lipoprotein) receptor, impaired metabolism and increased LDL cholesterol in the plasma
• Phenylketonuria- ————- disorder that affects 1 in 10,000 Caucasian infants. Severe lack of ———–, leading to ————–.
Autosomal recessive
phenylalanine hydroxylase
hyperphenylalaninemia and PKU
Phenylketonuria; Affected infants are normal at birth, but elevated phenylalanine levels
impair brain development, and mental retardation is evident by 6 months of age.
• Lysosomal Storage Diseases- ————- transmission. Commonly affect —————. Accumulation of ———–
Autosomal recessive
infants and young children
insoluble large molecules (sphingolipids and mucopolysaccharides) in macrophages with hepatosplenomegaly
Lysosomal storage diseases: Frequent
CNS involvement, mental retardation and/or early death
Mucopolysaccharidoses- Affected patients often have
coarse facial features, clouding of cornea, joint stiffness and mental retardation
• Hurler Disease (MPS type I)- AR, caused by deficiency of
alpha-L-iduronidase (laronidase).
Hurler disease: Life expectancy of
6-10 years untreated. Cost of the enzyme→$300k annually
• Hunter Syndrome-
X-linked, deficiency of L-iduronate sulfatase.
Hunter syndrome: Absence of
corneal clouding and milder clinical course, but otherwise similar to Hurler syndrome
Injury by therapeutic agents- Adverse drug reactions (ADR’s) are common affecting an estimated
7-8% of hospitalized persons and about 10% of these are fatal.
o Aspirin (Acetylsalicylic acid or ASA) – overdose may be accidental (young kids) or intentional (adolescents/adults). Ingestion of as little as ———- (kids) or ———– (adults) may be fatal.
2-4 gms, 10-30 gms
Aspirin OD: The major acute injury is a
metabolic one – first there is respiratory alkalosis followed by metabolic acidosis. It may progress to seizures and coma.
o Acetaminophen (Tylenol®) – overdose occurs after large ingestion ——-. Toxicity is by damage to the ——–.
(15-20 g)
liver which occurs over several hours to days
Tylenol OD: Early symptoms are
non-specific – nausea, vomiting, diarrhea, but will be followed by jaundice and shock as the liver failure progresses. There may also be heart and kidney damage as well.
Lead-. Patients develop a
microcytic hypochromic anemia.
Lead: Treatment is generally by
chelation therapy (starting at 45 ug/dL) and supportive measures
o Hyperthermia• Heat exhaustion- most common, failure of the
CV system to adjust to hypovolemia
o Hyperthermia: Heat stroke- abnormal elevation of body temp
> 40*;
