selected diseases from module 1-6 Flashcards
(26 cards)
SLE
Module 4 - example of Type III hypersensitivity
Systemic Lupus Erythematosus
Targets DNA, Type III Hypersensitivity Reaction (circulating DNA-AntiDNA complexes)
Predominantly female (90% women b/w 12-40)
Dermatitis, nephritis, arthritis: due to trapping in skin, kidneys and joint synovium
Hashimoto’s thyroiditis
Module 4 - example of Type II and Type IV hypersensitivity reaction
Targets thyroid follicular cells, Type II (cytotoxic antibody; complement activation) and Type IV (cell-mediated)
Hypothyroidism d/t destruction of thyroid cells
Goodpasture syndrome
Module 4 example of Type II Hypersensitivity
Antibody to type IV collagen leads to damage of lung and kidney basement membrane
myasthenia gravis
Module 4 example of Type II Hypersensitivity
formation of Ab to block ACh receptors
Graves disease
Module 4 example of Type II Hypersensitivity
Ab to TSH receptor that stimulates thyroid function
Hyperthyroidism
Serum sickness
Module 4 example of Type III Hypersensitivity
caused by injection of foreign protein
characterized by fever, joint pain, vasculitis, acute goerulonephritis
rheumatoid arthritis
Module 4 example of Type III Hypersensitivity
list some examples of Type IV hypersensitivity
poison ivy, chronic active hepatitis, TB, organ rejection
what are some examples of cancer causing viruses?
HPV -type 16, 18, 31 assoc. with squamous cell carcinoma
Epstien Barr Virus (EBV) - Burkitts lymphoma, nasopharyngeal carcinoma
Hep B - hepatocellular carcinoma
describe the specific example of paraneoplastic syndrome
Bronchogenic carcinoma
causes:
- Cushing’s syndrome
- Syndrome of inapprop. ADH secretion
- Hypercalcemia (too much calcium in blood)
- Myesthesia (awareness of muscle contraction)
- ancanthosis nigricans
- hypertrophic osteoarthropathy (clubbing of the fingers and toes, painful swollen joints)
- venous thrombosis
WHY? symptom complex in cancer pt.s that can’t be explained. Systemic effects that basically happen because a person has cancer but they can’t be explained.
Down Syndrome
extra 21st chromosome (Trisomy 21)
example of chromosomal disorder
abnormal faces, palmar creases, congenital heart disease, duodenal stenosis or atresia, mental retardation
Turner Syndrome
1 sex chromosome (X0)
fail to develop normal secondary sex characteristics, are infertile and have skeletal abnormalities
Kleinfelter Syndrome
extra sex chromosome (XXY)
fail to develop normal secondary sex characteristics, are infertile and have skeletal abnormalities
Cri-du-chat Syndrome
examples of structural abnormality of chromosome, deletion
partial deletion of short arm chromosome 5
cat-like cry, small head, facial abnormalities
Prader-Willi Syndrome
examples of structural abnormality of chromosome, microdeletion
small deletion of chromosome 15
short stature, obesity, small hands/feet, small penis, cryptorchidism (absence of one or more testes), mental retardation
Balanced translocations
1/500 freq
if one of the couple carries a balanced translocation, they have an increased risk to have miscarriages and abnormal children with structural abnormalities
Marfan Syndrome
Single Gene Disorder, autosomal dominant
disorder of connective tissue assoc with widespread effects in skeleton, eye and cardiovascular system
long limbs, dislocation of lens of eye and abnormal dilatation of aorta. gene is on chromosome 15
Familial Hypercholesterolemia
Single Gene Disorder, autosomal dominant
mutation in gene encoding the LDL receptor resulting in elevated cholesterol level in plasma and deposition of cholesterol in arteries
Can lead to coronary heart disease
Gene on chromosome 19
Cystic Fibrosis
Single Gene Disorder, autosomal recessive
respiratory tree mucous abnormal causing repeted lung infection with destruction of lung tissue
also have pancreatic insufficiency resulting in intestinal malabsorption
the gene is on chromosome 7
Phenylketonuria (PKU)
Single Gene Disorder, autosomal recessive
metabolic disease - mutation in phenylalanine hydroxylase - enzyme that converts phenylalanine to tyrosine
Accumulation of phenylalanine in body fluid damages developing brain in early childhood and causes severe mental retardation
Hemophilia A
Single Gene Disorder, x-linked recessive
absent blood clotting factor with prolonged bleeding time and bleeding into joints and muscles
gene on sex chromosome X
what are some examples of multifactorial and polygenic disorders?
are heritable but don’t fit a pattern
cleft palate, congenital heart disease, spina bifida, hypertension, diabetes mellitus
Bruton’s syndrome
primary (congenital and/or genetic) immunodeficiency disease
a.k.a. x-linked agammaglubulinemia
failure of pre-B cells to differentiate into B cells leaving body absent of antibodies
DiGeorge syndrome
primary (congenital and/or genetic) immunodeficiency disease
congenital absence of thymus and parathyroid glands development with deficient T cell maturation
vulnerable to viral, fungal & protozoal infections and to intracellular bacterial infections
also affects helper/suppressor effect on B cells
