UTA NURS 3366 – Patho (2025) Study Guide – Review &
Discussion #1–#4 ANSWER KEY|BEST|GEADED A+
All study sets are designed to be helpful to the student taking patho, but not
comprehensive. To be adequately prepared for the exams for this course, please be sure
you are familiar with the course notes, optional extra materials (lectures, preps, concept
maps, case studies, etc) and test blueprints
Contents
Genetic Influence in Disease (RRD #1) .......................................................................................................... 1
Basic Concepts (RRD #1) ............................................................................................................................... 4
Alterations in Intracellular Functions, Fluid and Solute Balance, Acid / Base Balance (RRD #1 & 2) ........... 6
Altered Tissue and Cellular Proliferation (RRD #2) ..................................................................................... 15
Mechanisms of Defense & Alterations: Inflammation, Immune Function (RRD #3) .................................. 22
Infection (RRD #4) ....................................................................................................................................... 30
Genetic Influence in Disease (RRD #1)
gene
a segment of a DNA moelcule that is composed of an ordered sequence of necleotide bases (adenine,
guanine, cytosine, thymine).
What is the main function of genes?
To code for the synthesis of proteins that form our traits and functional characteristics. These proteins
can be permanent or functional in purpose.
When there is a mutation of a gene...
the protein it is responsible for often malfunctions.
A chromosome
a DNA molecule that is made up of a series of genes. We receive 23 chromosomes from each parent, so
we end up with 23 pairs. 22 of these are autosomal, one is a sex chromasome.
Alleles
,Partner genes that code for the same trait on a pair of chromosomes. They have the same location on
each chormosome. Each allele in the pair of genes on the chromosome can be dominant, recessive, or
both.
dominant genes
are noted in a Punnett square with an upper case letter
recessive genes
are noted in a Punnett square with a lower case letter
genotypes
The combination of partner genes (alleles) located on the chromosome that represent what was
inherited from mom and dad. Examples of various combinations (randomly using the letter "g"), can be
GG (homozygous dominant), gg (homozygous recessive) or Gg (heterozygous).
phenotype
How the disorder looks. The signs and symptoms of the disorder.
multifactorial genetic disorders
a combination of environmental triggers and variations /mutations of genes plus sometimes inherited
tendencies.
teratogenic disorders
any influence (drugs, radiation, viruses) that can cause congenital defects. Congenital defects:
abnormalities that are either detectable at birth and / or can be contributed to fetal development
glitches.
chromosomal disorders / chromosomal aberrations
a type of genetic disorder that results from alterations to the development or structure of a
chromosome, which in turn alters the local genes and their functionality. Ex. Down's Syndrome.
single gene disorders
These are usually due to an inherited mutated gene. They occur in recognizable patterns: autosomal
recessive, autosomal dominant, and sex-linked.
,autosomal recessive disorders
occurs when a mutated recessive gene on one chromosome partners up with a mutated recessive gene
on the other. These partner genes (alleles) are noted with two lower case letters: gg. Example: Sickle
Cell Anemia
anemia
less than normal numbers of red blood cells (RBC's). Symptoms of anemia include: shortness of breath
(SOB), weakness, and fatigue because fewer RBCs means less less hemoglobin, which in turn carries O2
to the tissues.
sequela of sickle-shaped RBC's
Abnormal shape: doesn't "flow" through the circulatory system easily, becomes marked for destruction
sooner by the body, clogs the microcirculation of the joints, causing ischemic pain, deformed Hgb can't
carry as much oxygen.
What is a sickle cell carrier / sickle cell trait?
The individual has a heterozygus genotype for sickle cell anemia, can pass the gene on to their offspring,
and may have mild s/sx of sickle cell disease.
autosomal dominant disorders
occurs when a mutated dominant gene on one chromosome partners up with a mutated dominant gene
on the other. In a dominant disease, the mutated gene is the strong one, so even if it is paired with a
normal allele, it will override the normal allele's coding. These partner genes (alleles) are noted with two
upper case letters: PP or Pp. Example: polycystic kidney disease (PKD)
signs and symptoms of polycystic kidney disease
cysts in kidney tissue, hematuria (blood in urine), frequent kidney infections, pain at costovertebral
angle and in abdomen, frequent kidney stones.
A & P of sex-linked disorders
For females, the two X's will work just like autosomal chromosomes - a gene on one X has a partner
allele at the same locus on the other X. But with males, the genes on his X will have no partner on the Y
gene. The most common type of sex-linked disorder are "x-linked recessive disorders"
, Why do x-linked recessive disorders happen to males?
x-linked recessive disorders are caused by a recessive allele that is always located only on an x
chromosome. Females are typically carriers, because theu are often protected by a normal dominant
gene on their other x chromosome. Males will express the disorder because their partner gene is a Y
chromosome with no partner allele. An example of an x-linked recessive disorder in males: hemophilia.
What is recombinant DNA?
New DNA that results from purposefully combining two or more sources of DNA. This has produced
many useful applications to medicine: human growth hormone, exogenous inculin, factor VIII for
hemophiliacs, and "clot-busting drugs" like tPA for patients who are having a heart attack or ischemic
stroke.
Basic Concepts (RRD #1)
homeostasis
maintenance of constant conditions in the body's internal environment.
compensation
the return to homeostasis after being challenged by a stressor. Similar words: adaptation, healing.
Achieved by the use of control mechanisms / compensatory mechanisms.
glycogenolysis
the breakdown of glycogen (a form of stored glucose in the liver)
decompensation
the failure to compensation, adapt, or heal. Decompensation happens when the body is unable to
appropriately meet the challenge of a stressor.
risk factors
factors that contribute to or increase the probability that a disease will occur. Examples: heredity, age,
ethnicity, lifestyle. These may be modifiable or non-modifiable.
Discussion #1–#4 ANSWER KEY|BEST|GEADED A+
All study sets are designed to be helpful to the student taking patho, but not
comprehensive. To be adequately prepared for the exams for this course, please be sure
you are familiar with the course notes, optional extra materials (lectures, preps, concept
maps, case studies, etc) and test blueprints
Contents
Genetic Influence in Disease (RRD #1) .......................................................................................................... 1
Basic Concepts (RRD #1) ............................................................................................................................... 4
Alterations in Intracellular Functions, Fluid and Solute Balance, Acid / Base Balance (RRD #1 & 2) ........... 6
Altered Tissue and Cellular Proliferation (RRD #2) ..................................................................................... 15
Mechanisms of Defense & Alterations: Inflammation, Immune Function (RRD #3) .................................. 22
Infection (RRD #4) ....................................................................................................................................... 30
Genetic Influence in Disease (RRD #1)
gene
a segment of a DNA moelcule that is composed of an ordered sequence of necleotide bases (adenine,
guanine, cytosine, thymine).
What is the main function of genes?
To code for the synthesis of proteins that form our traits and functional characteristics. These proteins
can be permanent or functional in purpose.
When there is a mutation of a gene...
the protein it is responsible for often malfunctions.
A chromosome
a DNA molecule that is made up of a series of genes. We receive 23 chromosomes from each parent, so
we end up with 23 pairs. 22 of these are autosomal, one is a sex chromasome.
Alleles
,Partner genes that code for the same trait on a pair of chromosomes. They have the same location on
each chormosome. Each allele in the pair of genes on the chromosome can be dominant, recessive, or
both.
dominant genes
are noted in a Punnett square with an upper case letter
recessive genes
are noted in a Punnett square with a lower case letter
genotypes
The combination of partner genes (alleles) located on the chromosome that represent what was
inherited from mom and dad. Examples of various combinations (randomly using the letter "g"), can be
GG (homozygous dominant), gg (homozygous recessive) or Gg (heterozygous).
phenotype
How the disorder looks. The signs and symptoms of the disorder.
multifactorial genetic disorders
a combination of environmental triggers and variations /mutations of genes plus sometimes inherited
tendencies.
teratogenic disorders
any influence (drugs, radiation, viruses) that can cause congenital defects. Congenital defects:
abnormalities that are either detectable at birth and / or can be contributed to fetal development
glitches.
chromosomal disorders / chromosomal aberrations
a type of genetic disorder that results from alterations to the development or structure of a
chromosome, which in turn alters the local genes and their functionality. Ex. Down's Syndrome.
single gene disorders
These are usually due to an inherited mutated gene. They occur in recognizable patterns: autosomal
recessive, autosomal dominant, and sex-linked.
,autosomal recessive disorders
occurs when a mutated recessive gene on one chromosome partners up with a mutated recessive gene
on the other. These partner genes (alleles) are noted with two lower case letters: gg. Example: Sickle
Cell Anemia
anemia
less than normal numbers of red blood cells (RBC's). Symptoms of anemia include: shortness of breath
(SOB), weakness, and fatigue because fewer RBCs means less less hemoglobin, which in turn carries O2
to the tissues.
sequela of sickle-shaped RBC's
Abnormal shape: doesn't "flow" through the circulatory system easily, becomes marked for destruction
sooner by the body, clogs the microcirculation of the joints, causing ischemic pain, deformed Hgb can't
carry as much oxygen.
What is a sickle cell carrier / sickle cell trait?
The individual has a heterozygus genotype for sickle cell anemia, can pass the gene on to their offspring,
and may have mild s/sx of sickle cell disease.
autosomal dominant disorders
occurs when a mutated dominant gene on one chromosome partners up with a mutated dominant gene
on the other. In a dominant disease, the mutated gene is the strong one, so even if it is paired with a
normal allele, it will override the normal allele's coding. These partner genes (alleles) are noted with two
upper case letters: PP or Pp. Example: polycystic kidney disease (PKD)
signs and symptoms of polycystic kidney disease
cysts in kidney tissue, hematuria (blood in urine), frequent kidney infections, pain at costovertebral
angle and in abdomen, frequent kidney stones.
A & P of sex-linked disorders
For females, the two X's will work just like autosomal chromosomes - a gene on one X has a partner
allele at the same locus on the other X. But with males, the genes on his X will have no partner on the Y
gene. The most common type of sex-linked disorder are "x-linked recessive disorders"
, Why do x-linked recessive disorders happen to males?
x-linked recessive disorders are caused by a recessive allele that is always located only on an x
chromosome. Females are typically carriers, because theu are often protected by a normal dominant
gene on their other x chromosome. Males will express the disorder because their partner gene is a Y
chromosome with no partner allele. An example of an x-linked recessive disorder in males: hemophilia.
What is recombinant DNA?
New DNA that results from purposefully combining two or more sources of DNA. This has produced
many useful applications to medicine: human growth hormone, exogenous inculin, factor VIII for
hemophiliacs, and "clot-busting drugs" like tPA for patients who are having a heart attack or ischemic
stroke.
Basic Concepts (RRD #1)
homeostasis
maintenance of constant conditions in the body's internal environment.
compensation
the return to homeostasis after being challenged by a stressor. Similar words: adaptation, healing.
Achieved by the use of control mechanisms / compensatory mechanisms.
glycogenolysis
the breakdown of glycogen (a form of stored glucose in the liver)
decompensation
the failure to compensation, adapt, or heal. Decompensation happens when the body is unable to
appropriately meet the challenge of a stressor.
risk factors
factors that contribute to or increase the probability that a disease will occur. Examples: heredity, age,
ethnicity, lifestyle. These may be modifiable or non-modifiable.
