Genetic and familial diseases

Pathophysiology

100

Which causative factor comes from diseases or conditions associated w/ chromosomal determinate or alterations

Genetic

200

Requires only one mutated gene to be affected, affected person has one affected parent. 50% chance that child will inherit mutated gene. 

Ex - Huntington's disease, neurofibromatosis, marfan syndrome.

Autosomal dominant

300

Mutation X choromosome, males more frequently affected. 

Ex - Hemophillia A, Duchenne muscular dystrophy, male pattern baldness and red / green colored blindness

X linked recessive

400

Also known as maternal inheritance

Ex - Leber's hereditary optic neuropathy

Mitochondrial

500

Caused by mutations on __ chromosome. Every son of an affected father, female offspring never affected. ___ chromosome is small, contains very few genes. 

Ex - infertility, hypertrichosis pinnae

Y linked

Immunologic

100

Inflammatory reaction to strep infection, not infection itself

Rheumatic fever

200

Type of immunity caused by exposure to antigen of other human origin

Isoimmunity

300

Hyperactive immune response in the airway

Asthma 

400

Chronic inflammatory autoimmune disease, unusual antibodies in blood target body tissues

Lupus

500

Can lupus be caused by immunizations? 

NO

Neoplastic/Endocrine

100

Abnormal and uncontrolled growth of body cells

Cancer

200

Malignant neoplasm of blood forming organism, abnormally high number of leukocytes produced

Leukemia

300

Describe metastatic cascade

Development of primary tumor

Metastatic clone evolves

Proliferation of clone, invasion of vessel

Transport by circulation

Embolization

Invasion into surrounding tissue

Formation of new tumor

400

Accelerated atherosclerotic process, leading cause pf blindness, heart disease, kidney failure, premature death

Diabetes mellitus

500

Decreased insulin production or body not utilizing insulin

Type 2 diabetes mellitus 

Cardiovascular/GI

100

Deposits on walls of coronary arteries, reduces blood flow to heart, major factor in heart attacks and strokes

CAD - Coronary artery disease

200

Inflammation of gall bladder, results from blockage by gallstones

Cholecystitis 

300

Delay between depolarization and re polarization of ventricles

Long QT syndrome

400

General disease of the heart muscle, most often infectious cause

Cardiomyopathy 

500

Bulging or ballooning of left atrio-ventricular valve, cause regurgitation into left atrium

Mitral valve prolapse

Neuromuscular/Hemo

100

Demyelination of nerves of CNS, results in poor nerve transmission

MS - Multiple sclerosis 

200

Hereditary condition which develops later in life, 50% of children will contract in 1 parent has condition. Characterized by uncontrolled jerking and writhing movements, may develop memory loss, personality and behavioral deterioration

Huntington's disease

300

Increased destruction of RBC, related to antigen - antibody reaction. Causes include immune dysfunction, chemical / drug toxicity, bacterial infection

Hemolytic anemia

400

Failure of bone marrow to produce blood components, due to injury or destruction on blood forming area of bone

Aplastic anemia

500

Genetic disorder caused by a histocompatability complex dysfunction, marked by excessive absorption / accumulation of iron

How is this treated

Hemochromatosis

Phlebotomy - leeches