Notes de cours
NUR 1025C Congenital Anomalies Notes
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This is a comprehensive and detailed note on; Congenital Anomalies.
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Cystic fibrosis (Lindsay, Rachel, Susan, Briana)● What is it?
○ Genetic disorder that causes abnormalities in your glands that produce mucus and sweat
and mostly affects the lungs, pancreas, liver, intestines, and sex organs
○ Mucus clogs airways in lungs and ducts that are in the pancreas and liver
○ Assessment findings: non-productive cough with thick sputum, failure to thrive, salty taste
to skin, oily stools/constipation, respiratory congestion, abdominal pain
● Diagnostic
○ Newborn screening
○ Sweat testing- looking for salt
○ Genetic testing
● Treatment/Prevention
○ There is no prevention
○ Chest physiotherapy
○ Monitor for respiratory infection
○ Increase fluids
○ High calorie/ high protein diet
○ Mucus clearance devices
○ Oxygen
○ Meds: bronchodilators, antibiotics, pancreatic enzymes (at every meal and snack)
● Nursing considerations/ priorities
○ Ensure adequate oxygenation
○ Optimize GI function/elimination
○ Promote effective gas exchange
○ Assess abdomen for distention, bowel sounds, and gas patterns
○ Monitor blood glucose
● 4 NCLEX Questions
○ Select the systems below that are affected by CF? Answers: A,C,D,F
■ Reproductive
■ Lymphatic
■ Respiratory
■ GI
■ Neuro
■ Integumentary
○ Which one of these would indicate to a nurse that a child with CF was having a
pulmonary exacerbation? Answer: B
■ Weight gain
■ Weight loss associated with loss of appetite
■ Excessive sweating
■ Productive coughing
○ You’re assisting a patient with performing chest physiotherapy. It is very important you
have the patient ____ during the session. Answer: C
■ Bear down
■ Use incentive spirometer
■ Huff cough
■ Use a peak flow meter
○ Which of these are the most important aspects of education for parents for home care?
Answers: A,B,D
, ■ Techniques for removal of mucus
■ Breathing exercises
■ Limit exercise
■ How to use medical equipment
■ Patient needs to be on a low-calorie, low-fat diet
Phenylketonuria(Emi, Kaitlyn, Taylor)
Also called: PKU
WHAT IS IT?
A birth defect that causes an amino acid called phenylalanine to build up in the body.
An inborn error of metabolism inherited as an autosomal recessive trait
Caused by a deficiency or absence of the enzyme needed to metabolize the essential amino acid
phenylalanine
TX: restricting phenylalanine in the diet. Phenylalanine cannot be eliminated from the diet because it is an
essential amino acid in tissue growth.
Dietary management must meet two criteria: 1. Meet the child’s nutritional need for optimum growth 2.
Maintain phenylalanine levels within a safe range(2-6mg/dL)
Infants with blood phenylalanine levels higher than 10mg/dL should be started on treatment to establish
metabolic control as soon as possible
TEST: A PKU screening test is a blood test given to newborns 24–72 hours after birth.
DX: This test involves taking a sample of blood and analyzing it for the presence of the enzyme needed to
break down phenylalanine.
Nursing Considerations:
● Teaching the family regarding the dietary restrictions
● Assess development in child: delayed development, failure to thrive, short stature, or slow growth.
● Assess cognitive development in child: intellectual disability or slowness in activity.
● When collecting the blood specimen for screening, “layering” the blood specimen on the special
paper is placing one drop of blood on top of the paper and avoiding double dipping the blood
drops
NCLEX Question:
1. A new mother has some questions about phenylketonuria (PKU). Which of the following
statements made by a nurse is not correct regarding PKU?
a. A Guthrie test can check the necessary lab values.
b. The urine has a high concentration of phenylpyruvic acid
c. Mental deficits are often present with PKU
d. The effects of PKU are reversible.
2. Which food should a pregnant woman with PKU avoid? Select all that apply.
a. Aspartame
b. Nuts
c. Milk
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