2920 Pathophysiology Exam One Flashcards
(170 cards)
define genetics
study of heredity and inherited characteristics
define mutation
change or damage to a gene that alters genetic code
autosomal dominant genetic disease
abnormal allele is dominant and normal allele is recessive
what is the recurrence risk of autosomal dominant diseases if one parent is affected? Both parents?
50% chance for one parent, 75% chance if both affected
are males or females more affected in autosomal dominant disorders?
both are affected equally
examples of autosomal dominant disorders
BRCA gene cancers (breast and ovarian)
Huntington’s disease
familial hypercholesterolemia
marfan syndrome
autosomal recessive genetic diseases
abnormal allele is recessive, and the person must be homozygous for the disease to be expressed
what is the recurrence rate of autosomal dominant diseases if parents are heterozygous? what is the chance of children being a carrier?
25% risk of disease recurrence, 50% chance of child being a carrier
what are some examples of autosomal recessive disorders?
cystic fibrosis
sickle cell disease
tay-sachs disease
PKU
who is usually affected by x linked recessive disorders? who is usually a carrier?
men are usually affected because they have only one x chromosome, women can be carriers
can affected men transmit x linked disorders to their sons?
no, because they give only their Y chromosome
what are some examples of x linked recessive disorders?
duchenne muscular dystrophy
hemophilia
color blindness
wiskott-aldrich syndrome
Is familial hypercholesterolemia autosomal dominant or recessive?
dominant
pathophysiology: familial hypercholesterolemia
liver lacks production LDL receptors, so patient has increasingly high levels of LDL
clinical manifestations: familial hypercholesterolemia
cholesterol exceeding 600 mg/dL
early atherosclerosis
early adult coronary artery disease or MI
pathophysiology: marfan syndrome
gene mutation that causes connective tissue weakening, which leads to weakening and aneurysms of vascular structures that will eventually rupture
clinical manifestations: marfan syndrome
tall stature heart murmurs ligament hypermobility syncope dyspnea joint issues
what is the most common lethal inherited disease in caucasians?
cystic fibrosis
pathohysiology: cystic fibrosis
dysfunction of gene that regulates chloride channels, leading to salt and chloride exchange issues in epithelial cells
clinical manifestations: cystic fibrosis
pancreatic enzyme deficiency
thick respiratory mucus and difficulty breathing
everything clogged with thick mucus and severe dehydration in all systems
pathophysiology: tay sachs disease
genetic mutation causing deficiency of lysozomal enzyme, leading to progressive destruction of neurons
clinical manifestations: tay-sachs disease
cherry red spots on retina
incoordination and flaccid muscles
cognitive impairment
symptoms often present in early infancy
pathophysiology: wilson’s disease
genetic disorder of copper metabolism, leading to copper deposits in the body that damage hepatocytes
clinical manifestations: wilson disease
cirrhosis tremor speaking issues ataxia clumsiness/dystonia seizures