NURS 3366 UTA PATHO EXAM 1 QUESTIONS |GUARANTEED
ACCURATE ASWERS 2025\26
Terms in this set (84)
can be inherited or arise spontaneously in response to an
genetic disorder influence
disorders or mitochondrial DNA,
4 groupings of genetic disorders Multifactorial, Chromosomal, Single Gene
Mitochondrial genetic disorders combination of several influences, including inheritance,
causes environment, events in uterus
fetal alcohol syndrome defects caused by the effects of alcohol on an unborn child
Thalidomide Defect Babies born with limbs absent
Trisomy 21 AN extra chromosome 21 also know Polysomy.
- Abnormalities of face, hands, tongue, eyelids
- Slow physical and mental development
Trisomy 21 symptoms
- Short stature
- Prone to heart malformations, respiratory disease, leukemia
a chromosomal segment is moved from one position to
Translocation another, either within the same chromosome or to another
chromosome
, translocation leads to CML or Philadelphia Chromosome
single gene disorders 3 autosomal dominant, autosomal recessive, sex-linked
categories
a given site on a pair of chromosomes, the normal allele is
autosomal recessive Dominat, abnormal allele is Recessive
For someone to Have a must have received both recessive genes from each parent
recessive disease...
sickle cell anemia RBCs cannot carry O2, get stuck in the capillaries
sickle cell anemia s&s Ischemic pain, SOB, fatigue
autosomal dominant The normal allele is recessive, abnormal allele is
Dominant PKD (polycystic kidney disease) dominant gene codes for cysts in the kidneys
PKd s&s hematuria, proteinuria, pain, kidney failure
intracellular disruptions can Hypoxia, nutritional problems, change in acid/ base balance,
take the form of change in electrolyte balance, change in fluid distribution
if too much glucose glycogen conversion
normal metabolic pathway start eating, carb breakdown, glucose, insulin, normal
if not enough glucose available Glycogenolysis or gluconeogensis
can't use glycogenolysis as back up plan so has
McCardle disease exercise intolerance
Skeletal muscle->myalgias, kidney failure, bloody urine
S/S of McCardle's disease Hypoglycemia
ACCURATE ASWERS 2025\26
Terms in this set (84)
can be inherited or arise spontaneously in response to an
genetic disorder influence
disorders or mitochondrial DNA,
4 groupings of genetic disorders Multifactorial, Chromosomal, Single Gene
Mitochondrial genetic disorders combination of several influences, including inheritance,
causes environment, events in uterus
fetal alcohol syndrome defects caused by the effects of alcohol on an unborn child
Thalidomide Defect Babies born with limbs absent
Trisomy 21 AN extra chromosome 21 also know Polysomy.
- Abnormalities of face, hands, tongue, eyelids
- Slow physical and mental development
Trisomy 21 symptoms
- Short stature
- Prone to heart malformations, respiratory disease, leukemia
a chromosomal segment is moved from one position to
Translocation another, either within the same chromosome or to another
chromosome
, translocation leads to CML or Philadelphia Chromosome
single gene disorders 3 autosomal dominant, autosomal recessive, sex-linked
categories
a given site on a pair of chromosomes, the normal allele is
autosomal recessive Dominat, abnormal allele is Recessive
For someone to Have a must have received both recessive genes from each parent
recessive disease...
sickle cell anemia RBCs cannot carry O2, get stuck in the capillaries
sickle cell anemia s&s Ischemic pain, SOB, fatigue
autosomal dominant The normal allele is recessive, abnormal allele is
Dominant PKD (polycystic kidney disease) dominant gene codes for cysts in the kidneys
PKd s&s hematuria, proteinuria, pain, kidney failure
intracellular disruptions can Hypoxia, nutritional problems, change in acid/ base balance,
take the form of change in electrolyte balance, change in fluid distribution
if too much glucose glycogen conversion
normal metabolic pathway start eating, carb breakdown, glucose, insulin, normal
if not enough glucose available Glycogenolysis or gluconeogensis
can't use glycogenolysis as back up plan so has
McCardle disease exercise intolerance
Skeletal muscle->myalgias, kidney failure, bloody urine
S/S of McCardle's disease Hypoglycemia
