familial disease and associated risk, divisions of pathology and autopsy and biopsy Flashcards
disorder in which the body’s own immune system
starts to attack body tissues.
Rheumatoid Arthritis
attach in Rheumatoid Arthritis is..
not only directed at the joint but to
many other parts of the body.
a collection of autoimmune diseases in which the
human immune system becomes hyperactive and
attacks healthy tissues.
Lupus Erythematosus
The symptoms of Lupus Erythematosus can affect many different body systems including..
joints, skin, kidneys, blood cells, heart, and lungs.
The most common and most severe form of Lupus Erythematosus
Systematic Lupus Erythematosus
chronic adrenal insufficiency, hypercortisolism,
hypoadrenalism, primary adrenal insufficiency
Addisons Disease
Enlarged thyroid, irritability, muscle weakness,
sleeping problems, fast heartbeat, poor tolerance of
heat.
Graves Disease
The classic finding of exophthalmos and lid retraction
Graves Disease
Petechiae, or small bruise-like markings is a blood
disorder that results in blood clots forming in small
blood vessels throughout the body.
Idiopathic Thrombocytopenic Purpura
result of Idiopathic Thrombocytopenic Purpura
results in a low platelet count, low red blood cells
due to their breakdown, and often kidney, heart, and
brain dysfunction.
a common long-term inflammatory disease
of the airways of the lungs.
Asthma
asthma is characterized by
It is characterized by
variable and recurring symptoms, reversible airflow
obstruction, and easily triggered bronchospasms
a genetic disorder caused by the presence of all or part of a third copy of chromosome 21.
Down Syndrome
Also known as Trisomy 21
Down Syndrome
Down Syndrome is typically associated with..
typically associated with physical
growth delays, characteristic facial features
caused by the presence of mutations in both copies of
the gene for the CFTR protein.
Cystic Fibrosis
CF is inherited in..
autosomal recessive manner
organs affected by cystic fibrosis
sinuses, lungs, skin, liver, pancreas, intestines and reproductive organs.
an inherited bleeding disorder in which the blood does not clot properly.
haemophilia
an inherited disorder that increases the levels of phenylalanine in the blood
Phenylketonuria
it is due to defective hepatic enzyme phenylalanine hydroxylase (PAH)
PKU
an inborn error of metabolism that is associated with decreased metabolism of the amino acid phenylalanine
PKU
if PKU is untreated, it can lead to:
Intellectual disability, seizures, behavioral problems and mental disorders.
in PKU..
the enzyme phenyl alanine hydroxylase converts the amino acid phenylalanine to tyrosine
genetic disorder that results in the destruction of nerve
cells in the brain and spinal cord.
Tay-Sachs Disease
common form of Tay-Sachs Disease
Infantile Tay-Sachs Disease
becomes apparent around three to six months of
age, with the baby losing the ability to turn over, sit, or
crawl.
Infantile Tay-Sachs Disease
in the age of four, people w/ tay-sach’s will experience:
seizures, hearing loss, and
inability to move, with death usually occurring by the
age of four
caused by a genetic mutation in the HEXA gene on
chromosome 15,
tay-sach’s disease
codes for a subunit of the
hexosaminidase enzyme known as hexosaminidase A.
HEXA gene
the manner of inheritance of tay-sachs
It is inherited from a person’s parents in an autosomal
recessive manner.
Tay–Sachs disease is a type of..
GM2 gangliosidosis and sphingolipidosis