HEALTH SCIENCES 2 7-1-1

UNIT 7
PART 1
Genetics and Congenital Disorders

PRE-CLASS ACTIVITIES
1. State the number of chromosomes present in a sperm and in an ovum.
Mature sex cells (sperm & ova) have 23 single chromosomes (haploid number) as a result of
meiosis during Spermatogenesis and Oogenesis

2. Describe what happens to the chromosomal number when a sperm fertilizes an

ovum.
When the ova and a sperm unite at conception (forming a zygote it will not have 46 chromosomes
(diploid number)

3. How does this process lead to the inheritance of genetic characteristics from both
parents?
Each parent contributes one chromosome so that offspring get half of their chromosomes from
their mother and half from their father

4. Describe the location and general function of genes and chromosomes.

Genetic information for each cell is stored on chromosomes
Chromosomes (contained in cell nucleus) are made of many genes. Each gene is made up a piece
of DNA (sequence of nucleic acids) in a particular location on a specific chromosome
Genes contain information that determine the function of all cells in the body. They control all
physical characteristics (e.g. eye colour) and all metabolic processes.
Some specific genes are responsible for certain diseases or conditions and are passed along from
parent to child
Sometimes changes in genes occur mutations, which can affect ova/sperm or the body cells

5. Describe briefly the following general causes of congenital health problems:

a) Genetic
Single gene
Defect in 1 gene within ova or sperm
A mutant gene passed on a chromosome to subsequent generations.
E.g. cystic fibrosis, sickle cell anemia, Huntingtons chorea

Chromosome defect
Error during meiosis (when sex cells formed) DNA fragments are displaced or lost, or an error
resulting in abnormal # of chromosomes (e.g. Down syndrome), thus altering genetic info
May be spontaneous or result from exposure to a damaging substance

Multi-factorial
May be caused by multiple genes or genetic influences combined with environmental factors
Predisposition/hereditary tendency toward a specific disease/disorder when exposed to a specific
factor(s). e.g. type 2 diabetes, cleft palate, colon cancer

b) Developmental
Spontaneous errors or may result from exposure to environmental factors before or during
pregnancy
 May be caused by maternal nutrition, radiation exposure, ETOH, cigarettes, drugs, infections,
chemicals (e.g. Cerebral Palsy)

Sickle Cell Anemia

6. State which of the causes in question 5 is the basis for sickle cell anemia.
Single Gene

7. Describe how sickle shaped erythrocytes can be problematic for an individual.

Formation of abnormal hemoglobin molecules changes shape of RBC from a disk to a sickle to
crescent shape
Cell membrane is damaged leading to hemolysis. Cells have much shorter life span (20 days
instead of 120)
Sickling commonly triggered by hypoxia
Initially sickling may be reversible when increased O2 is available, but after several episodes,
damage to RBCs is irreversible & hemolysis occurs
A major problem with sickled RBCs elongated, rigid RBCs cannot easily pass through
capillaries or small vessels causing vascular blockage leading to tissue necrosis (infarction) and
pain

8. Discuss the epidemiology of sickle cell anemia.

Recessive single gene (autosomal) must be inherited from both parents
Sickle cell anemia person has 2 genes for the disease inherits 1 from each parent
Sickle cell trait have 1 gene for the disease; usually asymptomatic but may develop some signs
(usually mild)
Very common in African & Middle eastern ancestry

9. Describe the clinical manifestations of sickle cell anemia.

Anemia
Episodes of pain
Painful swelling of hands
Frequent infections
Delayed growth
Vision problems

10. What is sickle cell crisis? What are the signs and symptoms? Discuss interventions for
sickle cell crisis.
A severe, painful, acute exacerbation of RBC sickling
Many larger blood vessels may become occluded affecting brain, bones or organs
Most commonly triggered by low oxygen in blood
S & S: severe pain (2 to tissue hypoxia) can last for days weeks
Treatment
o Focus on prevention of crisis and avoidance of situations that cause hypoxia (high
altitudes, resp infections) & other triggers such as strenuous activity, extremes of heat or
cold, dehydration
o Administration of oxygen; ensure adequate hydration (dehydration increase blood
viscosity & sickling)
 HEALTH SCIENCES 2 7-1-3
UNIT 7
PART 1

Huntingtons disease
Neurological disorder progressive atrophy of brain, degeneration of neurons (esp. basal ganglia
and frontal cortex). Caused by deficiency of neurotransmitters which leads to an excess of
dopamine

11. State which of the causes in question 5 is the basis for this disease.
Single Gene

12. Discuss the clinical behaviours of Huntingtons disease.

Abnormal and excessive involuntary movements chorea
Psychiatric abnormalities
Twisting, writhing movements of face, limbs, body
Affects facial movements of face chewing, swallowing, speech
Gait deterioration of mental functioning intellectual decline, emotional lability, psychotic
behaviour

13. Because this disease may be asymptomatic until an individual is in his/her thirties,
what are the implications for family planning?
If one parent has the disorder, a child has a 50% chance of inheriting the disorder
Biggest consideration when wanting to have a child

Downs syndrome
Chromosomal disorder in which there are 3 chromosomes rather than 2 on chromosome # 21
called trisomy

14. State which of the causes in question 5 is the basis for this disorder.
Chromosome defect

15. How does maternal age relate to the risk of having a child with Downs syndrome?
Maternal age influences the risk of conceiving a baby /c Down (at age 40, risk is 1/100)

16. Describe the usual characteristics of Downs syndrome under the following headings:
Eyesupward slanting eyes
noseflat
tonguestick out
mouthsmall
earssmall
palmswide, short hands
heightbelow average height
length of extremitiesshorter
heart anatomyrisk for congenital heart disease
mental developmentslower

17. What neurological disorder develops at an early age in individuals with Downs
syndrome?
Alzheimers Disease
Cerebral Palsy (CP)
18. Define cerebral palsy.
A group of disorders that affect the brain and cause some degree of motor impairment beginning
in early infancy
Causes: congenital, developmental; single multiple factors causing brain damage
Can occur before birth, during birth (perinatal) or immediately after birth

19. State which of the causes in question 5 is the basis for this disorder.
Developmental

20. Explain the pathophysiology of CP.

Brain tissue altered by trauma, hypoxia, hemorrhage, hypoglycemia, high bilirubin levels,
infection or other factor, leading to necrosis
Hypoxia or ischemia is a major cause of brain damage
Hypoxia can be caused by placental complications, hemorrhage, aspiration
Involves damage to cerebral cortex, corticospinal tracts, basal ganglia, cerebellum
Involves some degree of altered mobility

21. Describe the defining characteristics of CP.

3 major types of motor disabilities
o Spastic CP increase muscle tone, rigidity of extremities, contractures
o Dystonic loss of fine motor coordination; involuntary twisting, contorted movements,
facial grimacing
o Ataxic CP loss of balance and gait disturbance
Other problems
o Intellectual/cognitive (varies from mild to severe)
o Speech/communication; seizures; visual problems

22. Explain the frequency of intellectual impairment.

The greater the level of a persons physical impairment, the more likely it is that they will have
an intellectual disability (1 in 2 people)

Cystic Fibrosis
23. Identify the etiology of CF.
Genetic disorder single gene autosomal recessive
o Various mutations of CFTR gene on chromosome 7
o CFTR gene helps create sweat, digestive juices & mucus
o Defect in exocrine glands causes cells lining the lungs, pancreas and other organs to
produce abnormally thick, sticky mucus

24. Discuss the epidemiology of CF.

Most common genetic disease among white people in Canada
Disease occurs with a frequency of 1 in 2000 births (male/female equal)
The median age of survival for Canadians is currently 48 years of age

25. If both parents are carriers, what are the chances of their child developing CF?
 HEALTH SCIENCES 2 7-1-5
UNIT 7
PART 1
Carrier rate of 1 per 25 if both parents are carriers, offspring have a 25% chance of having CF
disease
26. Discuss the pathophysiological effects of CF considering the following systems:
Body system Pathophysiological effect of CF
Endocrine

Gastrointestinal In pancreas, blockage of ducts leads to decrease pancreatic digestive enzymes in

intestine leading to malabsorption and malnutrition
Damage of pancreatic cells (islets of Langerhans) may cause diabetes sometimes
Blockage of bile ducts interferes with fat digestion and absorption of fat
soluble vitamins A, D, E, K (later can cause damage to liver)

Reproductive Absence of fine ducts, such as the vas deferens, renders 95% of males
infertile
Woman are made infertile by a dense plug of mucus that blocks sperm from
entering the uterus

Respiratory Thick mucus obstructs airflow in bronchioles and leads to air trapping with
permanent damage to bronchial walls and eventually destruction of lung disease
Stasis of mucus creates excellent medium for bacteria and increasing risk of lower
resp infections (pneumonia) & atelectasis
Initially causes obstructive lung disease; later lung develops fibrosis (scarring);
cor pulmonale (late complication)

27. Define the following terms related to CF:

Term Definition
atelectasis Partial or complete collapse of lung
barrel chest Round, bulging chest with abnormal increase in the anteroposterior diameter,
showing little movement on respiration
fibrosis The thickening and scarring of connective tissue, usually as a result of injury
finger clubbing Occurs in heart and lung diseases that reduce the amount of oxygen in the blood
hemoptysis Coughing up of blood
meconium ileus Bowel obstruction that occurs when the meconium in your childs intestine is
even thicker and sticker than normal meconium, creating a blockage
postural drainage Getting in a position that helps drain fluid out of your lungs e.g. sitting upright
steatorrhea Excretion of abnormal quantities of fat with the feces owing to reduced
absorption of fat by the intestine

28. Describe the signs and symptoms of CF and explain why they occur.
Respiratory
o Chronic cough, copious mucus thick, purulent
o Frequent lung infections
 o Hemoptysis
o Later: barrel chest, finger clubbing, dyspnea (COPD)
GI
o Bulky, fatty, foul smelling stools (steatorrhea decreased fat absorption);
o abd distention, abd pain, bloating;
o weight loss & failure to thrive 2 to lack of pancreatic enzymes and bile needed for
digestion and absorption of nutrients and vitamins
salty skin
o high loss of salt through sweating

29. What are the common complications of CF considering the gastrointestinal and respiratory
systems?

30. Why may children with cystic fibrosis suffer from deficiency of vitamins A, D, E, and
K?
Blockage of bile ducts interferes with fat digestion and absorption of fat soluble vitamins

31. Discuss how a diagnosis of CF is made.

sweat chloride test measure Na+ and Cl- in sweat
blood test look for abnormal CFTR gene
pulmonary functions test measure how much air lungs can hold, how quickly person can
breathe air out of lungs
o forced vital capacity and FEV1 sec reduced
sputum cultures for C&S (diagnosis of resp infections)

32. Complete the following charts for pharmacological therapy for cystic fibrosis:
Drug Classification(s): Pancreatic Enzymes
Drug Name(s): Pancrelipase, Cotazym
Actions/Effects/Uses Adverse Effects Nursing Considerations
Action: pancreatic Adverse Effects: Assessment:
enzyme needed for Hyperglycemia, monitor input and output
breakdown of substances hypoglycemia, monitor fecal fat
released from the anorexia, nausea, monitor polyuria, polydipsia, polyphagia,
pancreas vomiting, diarrhea, glucose levels
cramping, bloating, assess for allergy to pork
Effects: increases hyperuricuria,
protein, fat, carb hyperuricemia Administration:
digestion PO 500 lipase units/kg/meal
Contraindications: Titrate based on response
Use: exocrine pancreatic Allergy to pork Max 2500 lipase units/kg/meal
secretion insufficiency,
cystic fibrosis, pancreatic Health teaching:
enzyme deficiency teach patient to always take with food
take with 8 oz of water while sitting up only
 HEALTH SCIENCES 2 7-1-7
UNIT 7
PART 1

Drug Classification(s): Mucolytics

Drug Name(s): acetylcysteine, mucomyst

Actions/Effects/Uses Adverse Effects Nursing Considerations

Action: decrease Chills, dizziness, Assessment:
viscosity of secretions in drowsiness, fever, assess cough
respiratory tract headache, hypotension, assess characteristics, rate, rhythm of
tachycardia, anorexia, respirations
Effects: decreased constipation, diarrhea, monitor vital signs, cardiac status
viscosity of mucus in hepatoxicity, nausea,
respiratory disorder vomiting, fever, Administration:
pruritus, anaphylaxis, (Nebulization) Instill 1-2ml q2-8hr prn
Uses: bronchitis, cystic angioedema, Or 3-5 ml or 6-10ml tid or qid
fibrosis, COPD, bronchospasm, cough,
atelectasis hemoptysis, dyspnea, Health teaching:
chest tightness tell patient to avoid driving
foul odour and smell may be unpleasant
Contraindications: clear airway for inhalation
Hypersensitivity
report vomiting