Genetics (Cystic Fibrosis, Down syndrome, Celiac disease, Sickle cell, Duchenne's Muscular Dystrophy)

Question 1

What is Cystic Fibrosis ?

Answer 1

Genetic disease that involves symptoms related to the exocrine glands and commonly involves both the GI system and Respiratory system

Question 2

Cystic Fibrosis involves what two systems primarily ?

Answer 2

GI system & Respiratory system

Question 3

What must be given to Cystic fibrosis patients to help improve digestion with every meal and every snack ?

Answer 3

Pancreatic Enzymes

Question 4

When should Cystic Fibrosis patients take Pancreatic Enzymes ?

Answer 4

Take within 30 minutes of eating

and the beads (pancreatic enzyme ?) should not be crushed or chewed
b/c can activate & burn oral mucosa

Question 5

What is a major concern with Cystic fibrosis ?

Answer 5

Nutrition

Question 6

Cystic fibrosis patients are usually what ?

Answer 6

Usually underweight from digestive problems

Question 7

Cystic fibrosis patients must be on what type of diet ?

Answer 7

Must be on a well-balanced, high fat & high calorie diet

Question 8

Why is high fat a diet component in cystic fibrosis patients ?

Answer 8

Because it uses less O2 to digest, so it is easier on the body & is more calories

Question 9

What are the signs and symptoms of Cystic Fibrosis ?

Answer 9

• Steatorrhea
• Have trouble absorbing fat soluble vitamins
• Thick/sticky secretions

Question 10

What is Steatorrhea ? (cystic fibrosis)

Answer 10

Fatty, frothy stools

Question 11

Why do Cystic Fibrosis clients have Steatorrhea stool appearances ?

Answer 11

because cystic fibrosis clients have such poor intestinal absorption

Question 12

What is the Diagnostic test for Cystic Fibrosis ?

Answer 12

Sweat Chloride test (loosing sodium)

Question 13

In the newborn, what is the earliest sign of Cystic Fibrosis ?

Answer 13

Meconium ileus

d/t mucous secretions being thick and sticky, so they can’t pass meconium

Question 14

What are the mucous secretions like in Cystic Fibrosis ?

Answer 14

Thick and Sticky

Question 15

Cystic Fibrosis is a what ?

Answer 15

Inherited disease

*but you MUST get the gene from both parents!

Question 16

Because you MUST get the gene from both parents to get Cystic Fibrosis, what type of disorder does it make CF ?

Answer 16

Autosomal Recessive Disorder

Question 17

What are fat soluble vitamins ?

Answer 17

Vitamins A, D, E, and K

Question 18

What is the most common birth defect in the United States ?

Answer 18

Down Syndrome

Question 19

Down syndrome is also known as what ?

Answer 19

Trisomy 21

Question 20

What type of infections are Down syndrome children most prone to developing ?

Answer 20

Respiratory infections

Question 21

Why are Down syndrome children prone to Respiratory infections ?

Answer 21

Because they have a poor immune system

Question 22

What is the most common type of physical defect associated with Down syndrome ?

Answer 22

Congenital Heart Defects

Question 23

What increases the risk of having a baby with Down syndrome ?

Answer 23

Advanced maternal age

the primary aim of genetic counseling is to inform the parents of their risk

Question 24

What is Celiac Disease ?

Answer 24

Genetic disorder causing malabsorption due to an intestinal intolerance to gluten

Question 25

What is the Treatment for Celiac Disease ?

Answer 25

Teach that this is a lifelong disorder, so:

• No food with gluten (vegetable proteins)
• They cannot have BROW
  - Barley
  - Rye
  - Oats
  - Wheat

Question 26

What CAN clients with Celiac Disease have ?

Answer 26

Can have RCS:

• Rice
• Corn
• Soy

Question 27

What is Sickle Cell Anemia ?

Answer 27

Hereditary form of anemia in which the normal hemoglobin is partially or completely replaced by abnormal hemoglobin and sickle-shaped RBC’s

Question 28

What are signs and symptoms of Sickle-cell anemia ?

Answer 28

• Pain in the areas of involvement
• Anorexia (loss of appetite)
• Exercise intolerance
• Fatigue
• Malaise

Question 29

What is the Pathophysiology of a Sickle cell Crisis ?

Answer 29

Decreased blood flow –> Decreased oxygen –> Pain

Question 30

What is the Treatment for Sickle Cell Anemia ?

Answer 30

• Bedrest
• HYDRATION
• Analgesics
• Antibiotics
• Blood transfusions
• Oxygen
• Hydroxyurea

Question 31

What is the #1 thing to stop a sickle cell crisis ?

Answer 31

HYDRATION

to push apart sickle cells & improve circulation

Question 32

What is Hydroxyurea and why is it used in the Tx for Sickle Cell ?

Answer 32

Chemo drug to decrease the # of episodes

Question 33

What is Duchenne’s muscular Dystrophy ?

Answer 33

The most common and severe muscular dystrophy of childhood and is inherited as a x-linked recessive trait

Question 34

Duchenne’s Muscular dystrophy is specific to who and why ?

Answer 34

Specific to male children b/c it is a X-linked recessive trait

Question 35

What is the progression of Duchenne’s Muscular dystrophy ?

Answer 35

Progression is rapid (& eventually involves all voluntary muscles)

Question 36

What is the age of onset with Duchenne’s Muscular dystrophy ?

Answer 36

Early childhood (typically ages 3 to 5 years old)

Question 37

What are the signs and symptoms of Duchenne’s Muscular dystrophy ?

Answer 37

• Lordosis (curvature of lower spine)
• Waddling gait
• Frequent falls (weakness in the muscles)
• Toe walking
• Gower sign

Question 38

What is Gower sign ?

Answer 38

Children start on all four extremities and then extended them all straight with the butt in the air and then move hands one at a time onto the knees to eventually come to a standing position

Question 39

What is the classic sign of Duchenne’s Muscular dystrophy ?

Answer 39

Gower sign

Question 40

What is the Treatment for Duchenne’s Muscular dystrophy ?

Answer 40

• Maintain optimum muscle function with PT
• Prevent contractures
• Steroids may help improve muscle strength and respiratory function
• Support groups and palliative care as disease progresses