NUR 201 - Pathophysiology (Final)
2026
phenylketonuria (PKU)
an autosomal recessive disorder caused by a mutation in the PAH gene, which
provides the instructions for making the enzyme, phenylalanine hydroxylase
(PAH); phenylalanine hydroxylase deficiency causes an inability to convert
phenylalanine, an essential amino acid, to tyrosine. Accumulations of
phenylalanine, without the necessary conversion to tyrosine, result in impaired
CNS development, impaired myelination, and brain degeneration
Tay-Sachs disease
an absence of the enzyme hexosaminidase-A (Hex-A) results in impaired
catabolism and accumulation of fatty substances, called GM2 gangliosides, inside
neural lysosomes in the brain. This leads to severe neurologic impairment marked
by developmental delays, neurodegeneration, blindness, deafness, muscle atrophy,
paralysis, and death (often by 4 years of age)
gluconeogenesis
The formation of glucose from noncarbohydrate sources, such as amino acids;
causes muscle wasting
Overnutrition
a state of excessive exposure to nutrients
Malabsorption
a lack of movement of specific nutrients across the gastrointestinal mucosa; caused
by problems with processing or digesting nutrients, the intestinal mucosa, or
lymphatic obstruction
Food allergies
are immune system-mediated adverse reactions to foods
general manifestations of altered nutrition
- Weight loss or gain (increased body fatness)
- Muscle wasting and weakness
- Changes in skin and mucous membranes
- Problems with wound healing
,- Dehydration, diarrhea, abdominal pain
- Fatigue
colonoscopy
the insertion of a flexible tube into the anus to observe the entire colon, from the
small intestine to the rectum. This test is often done in response to manifestations
of abdominal pain, diarrhea, alteration in bowel habits, or as a follow-up to an
abnormality found during another procedure, such as the barium enema or
computed tomography (CT) scan
Function of Thyroid hormone
two major functions: it increases metabolism and protein synthesis, and it is
necessary for growth and development in children, including mental development
and attainment of sexual maturity
renal calculi
characterized by lower back pain at the costovertebral angle and hematuria.
Extracorporeal shock wave lithotripsy (ESWL)
a nonsurgical treatment that uses sound waves, laser, or dry shock wave energy to
break apart the stones
malaise
a general feeling of discomfort, illness, or unease whose exact cause is difficult to
identify
Anterior cord syndrome
Loss of pain and temperature sensation below the level of injury. Preserved light
touch and vibration senses. Bowel and bladder dysfunction. Muscle spasticity or
stiffness as recovery progresses
Central cord syndrome (CCS)
an incomplete traumatic injury to the cervical spinal cord; Paralysis or loss of
fine control of movements in the arms and hands, with relatively less
impairment of leg movements. Loss of or change in sensation below the site of
the injury. Loss of bladder control. Painful sensations such as tinging, burning, or
dull ache.
Brown-Séquard syndrome
,an incomplete pattern of injury following a hemisection of the spinal cord resulting
in weakness or paralysis, loss of proprioception and vibration sense on the same
side of the damage, and loss of pain and temperature sensations on the opposite
side
Papilledema
swelling of the optic nerve
Sex cords
structures formed from gonadal ridges during embryogenesis and eventually form
testis cords in males
Seminomas
Malignant germ cells that resemble primitive sperm cells
Nonseminomas
Malignant germ cells that do not resemble primitive sperm cells and actually
appear as embryonic or undifferentiated somatic (e.g., skin, muscle, bone, and
glands.) components
endocrine hormones
The hormones that are carried to their target or cell group in the bloodstream.
exocrine hormones
Secreted via a duct into the blood and usually affect a distant organ or tissue.
Hemoglobin A1C
measures glucose binding to hemoglobin to determine an average blood glucose
over 3 months
Pruritis
the medical term for itching, which is an irritating sensation that prompts the
desire to scratch
Benign prostatic hyperplasia (BPH)
nonmalignant overgrowth of prostate tissue. It affects more than 50% of men over
age 60 and as many as 90% of men over age 70
Prostate-specific antigen (PSA)
, often measured to determine elevations that may indicate prostate hyperplasia or
dysplasia. Elevations in PSA are followed by a biopsy to confirm or rule out
malignancy
Type II DM Clinical Manifestations:
- Fatigue
- recurrent infections
- slow wound healing
- blurred vision, obesity
Type I DM Clinical Manifestations
- Polyuria
- polydipsia
- polyphagia
- weight loss
- fatigue
- risk of DKA
prostatic intraepithelial neoplasia
are characterized by atypical lumen cells lining the prostatic ducts
Inherited metabolic disorder
most often related to errors in amino acid and lipid metabolism, commonly result
from a genetically based defect in enzyme activity
Undernutrition
a lack of nutrient intake most often related to inadequate calorie consumption,
inadequate intake of essential vitamins and minerals, or problems with digestion,
absorption, or distribution of nutrients in the body
Altered nutrition, or malnutrition
a state of inadequate or excessive nutrients
Anemia
the reduction in the number of circulating blood cells and subsequently reduced
hemoglobin levels
Iron-deficiency anemia
represents a problem of iron demand on red blood cell development that cannot be
met with current iron stores; caused by inadequate iron intake, chronic
hemorrhage, iron malabsorption, or high iron demands
iron deficiency anemia clinical manifestations
- Often asymptomatic
- Pallor of the skin and mucous membranes
- Fatigue, weakness, lightheadedness, syncope, headache
2026
phenylketonuria (PKU)
an autosomal recessive disorder caused by a mutation in the PAH gene, which
provides the instructions for making the enzyme, phenylalanine hydroxylase
(PAH); phenylalanine hydroxylase deficiency causes an inability to convert
phenylalanine, an essential amino acid, to tyrosine. Accumulations of
phenylalanine, without the necessary conversion to tyrosine, result in impaired
CNS development, impaired myelination, and brain degeneration
Tay-Sachs disease
an absence of the enzyme hexosaminidase-A (Hex-A) results in impaired
catabolism and accumulation of fatty substances, called GM2 gangliosides, inside
neural lysosomes in the brain. This leads to severe neurologic impairment marked
by developmental delays, neurodegeneration, blindness, deafness, muscle atrophy,
paralysis, and death (often by 4 years of age)
gluconeogenesis
The formation of glucose from noncarbohydrate sources, such as amino acids;
causes muscle wasting
Overnutrition
a state of excessive exposure to nutrients
Malabsorption
a lack of movement of specific nutrients across the gastrointestinal mucosa; caused
by problems with processing or digesting nutrients, the intestinal mucosa, or
lymphatic obstruction
Food allergies
are immune system-mediated adverse reactions to foods
general manifestations of altered nutrition
- Weight loss or gain (increased body fatness)
- Muscle wasting and weakness
- Changes in skin and mucous membranes
- Problems with wound healing
,- Dehydration, diarrhea, abdominal pain
- Fatigue
colonoscopy
the insertion of a flexible tube into the anus to observe the entire colon, from the
small intestine to the rectum. This test is often done in response to manifestations
of abdominal pain, diarrhea, alteration in bowel habits, or as a follow-up to an
abnormality found during another procedure, such as the barium enema or
computed tomography (CT) scan
Function of Thyroid hormone
two major functions: it increases metabolism and protein synthesis, and it is
necessary for growth and development in children, including mental development
and attainment of sexual maturity
renal calculi
characterized by lower back pain at the costovertebral angle and hematuria.
Extracorporeal shock wave lithotripsy (ESWL)
a nonsurgical treatment that uses sound waves, laser, or dry shock wave energy to
break apart the stones
malaise
a general feeling of discomfort, illness, or unease whose exact cause is difficult to
identify
Anterior cord syndrome
Loss of pain and temperature sensation below the level of injury. Preserved light
touch and vibration senses. Bowel and bladder dysfunction. Muscle spasticity or
stiffness as recovery progresses
Central cord syndrome (CCS)
an incomplete traumatic injury to the cervical spinal cord; Paralysis or loss of
fine control of movements in the arms and hands, with relatively less
impairment of leg movements. Loss of or change in sensation below the site of
the injury. Loss of bladder control. Painful sensations such as tinging, burning, or
dull ache.
Brown-Séquard syndrome
,an incomplete pattern of injury following a hemisection of the spinal cord resulting
in weakness or paralysis, loss of proprioception and vibration sense on the same
side of the damage, and loss of pain and temperature sensations on the opposite
side
Papilledema
swelling of the optic nerve
Sex cords
structures formed from gonadal ridges during embryogenesis and eventually form
testis cords in males
Seminomas
Malignant germ cells that resemble primitive sperm cells
Nonseminomas
Malignant germ cells that do not resemble primitive sperm cells and actually
appear as embryonic or undifferentiated somatic (e.g., skin, muscle, bone, and
glands.) components
endocrine hormones
The hormones that are carried to their target or cell group in the bloodstream.
exocrine hormones
Secreted via a duct into the blood and usually affect a distant organ or tissue.
Hemoglobin A1C
measures glucose binding to hemoglobin to determine an average blood glucose
over 3 months
Pruritis
the medical term for itching, which is an irritating sensation that prompts the
desire to scratch
Benign prostatic hyperplasia (BPH)
nonmalignant overgrowth of prostate tissue. It affects more than 50% of men over
age 60 and as many as 90% of men over age 70
Prostate-specific antigen (PSA)
, often measured to determine elevations that may indicate prostate hyperplasia or
dysplasia. Elevations in PSA are followed by a biopsy to confirm or rule out
malignancy
Type II DM Clinical Manifestations:
- Fatigue
- recurrent infections
- slow wound healing
- blurred vision, obesity
Type I DM Clinical Manifestations
- Polyuria
- polydipsia
- polyphagia
- weight loss
- fatigue
- risk of DKA
prostatic intraepithelial neoplasia
are characterized by atypical lumen cells lining the prostatic ducts
Inherited metabolic disorder
most often related to errors in amino acid and lipid metabolism, commonly result
from a genetically based defect in enzyme activity
Undernutrition
a lack of nutrient intake most often related to inadequate calorie consumption,
inadequate intake of essential vitamins and minerals, or problems with digestion,
absorption, or distribution of nutrients in the body
Altered nutrition, or malnutrition
a state of inadequate or excessive nutrients
Anemia
the reduction in the number of circulating blood cells and subsequently reduced
hemoglobin levels
Iron-deficiency anemia
represents a problem of iron demand on red blood cell development that cannot be
met with current iron stores; caused by inadequate iron intake, chronic
hemorrhage, iron malabsorption, or high iron demands
iron deficiency anemia clinical manifestations
- Often asymptomatic
- Pallor of the skin and mucous membranes
- Fatigue, weakness, lightheadedness, syncope, headache
