Genetics (Cystic Fibrosis, Down syndrome, Celiac disease, Sickle cell, Duchenne's Muscular Dystrophy) Flashcards
What is Cystic Fibrosis ?
Genetic disease that involves symptoms related to the exocrine glands and commonly involves both the GI system and Respiratory system
Cystic Fibrosis involves what two systems primarily ?
GI system & Respiratory system
What must be given to Cystic fibrosis patients to help improve digestion with every meal and every snack ?
Pancreatic Enzymes
When should Cystic Fibrosis patients take Pancreatic Enzymes ?
Take within 30 minutes of eating
and the beads (pancreatic enzyme ?) should not be crushed or chewed
b/c can activate & burn oral mucosa
What is a major concern with Cystic fibrosis ?
Nutrition
Cystic fibrosis patients are usually what ?
Usually underweight from digestive problems
Cystic fibrosis patients must be on what type of diet ?
Must be on a well-balanced, high fat & high calorie diet
Why is high fat a diet component in cystic fibrosis patients ?
Because it uses less O2 to digest, so it is easier on the body & is more calories
What are the signs and symptoms of Cystic Fibrosis ?
- Steatorrhea
- Have trouble absorbing fat soluble vitamins
- Thick/sticky secretions
What is Steatorrhea ? (cystic fibrosis)
Fatty, frothy stools
Why do Cystic Fibrosis clients have Steatorrhea stool appearances ?
because cystic fibrosis clients have such poor intestinal absorption
What is the Diagnostic test for Cystic Fibrosis ?
Sweat Chloride test (loosing sodium)
In the newborn, what is the earliest sign of Cystic Fibrosis ?
Meconium ileus
d/t mucous secretions being thick and sticky, so they can’t pass meconium
What are the mucous secretions like in Cystic Fibrosis ?
Thick and Sticky
Cystic Fibrosis is a what ?
Inherited disease
*but you MUST get the gene from both parents!
Because you MUST get the gene from both parents to get Cystic Fibrosis, what type of disorder does it make CF ?
Autosomal Recessive Disorder
What are fat soluble vitamins ?
Vitamins A, D, E, and K
What is the most common birth defect in the United States ?
Down Syndrome
Down syndrome is also known as what ?
Trisomy 21
What type of infections are Down syndrome children most prone to developing ?
Respiratory infections
Why are Down syndrome children prone to Respiratory infections ?
Because they have a poor immune system
What is the most common type of physical defect associated with Down syndrome ?
Congenital Heart Defects
What increases the risk of having a baby with Down syndrome ?
Advanced maternal age
the primary aim of genetic counseling is to inform the parents of their risk
What is Celiac Disease ?
Genetic disorder causing malabsorption due to an intestinal intolerance to gluten
What is the Treatment for Celiac Disease ?
Teach that this is a lifelong disorder, so:
- No food with gluten (vegetable proteins)
- They cannot have BROW
- Barley
- Rye
- Oats
- Wheat
What CAN clients with Celiac Disease have ?
Can have RCS:
- Rice
- Corn
- Soy
What is Sickle Cell Anemia ?
Hereditary form of anemia in which the normal hemoglobin is partially or completely replaced by abnormal hemoglobin and sickle-shaped RBC’s
What are signs and symptoms of Sickle-cell anemia ?
- Pain in the areas of involvement
- Anorexia (loss of appetite)
- Exercise intolerance
- Fatigue
- Malaise
What is the Pathophysiology of a Sickle cell Crisis ?
Decreased blood flow –> Decreased oxygen –> Pain
What is the Treatment for Sickle Cell Anemia ?
- Bedrest
- HYDRATION
- Analgesics
- Antibiotics
- Blood transfusions
- Oxygen
- Hydroxyurea
What is the #1 thing to stop a sickle cell crisis ?
HYDRATION
to push apart sickle cells & improve circulation
What is Hydroxyurea and why is it used in the Tx for Sickle Cell ?
Chemo drug to decrease the # of episodes
What is Duchenne’s muscular Dystrophy ?
The most common and severe muscular dystrophy of childhood and is inherited as a x-linked recessive trait
Duchenne’s Muscular dystrophy is specific to who and why ?
Specific to male children b/c it is a X-linked recessive trait
What is the progression of Duchenne’s Muscular dystrophy ?
Progression is rapid (& eventually involves all voluntary muscles)
What is the age of onset with Duchenne’s Muscular dystrophy ?
Early childhood (typically ages 3 to 5 years old)
What are the signs and symptoms of Duchenne’s Muscular dystrophy ?
- Lordosis (curvature of lower spine)
- Waddling gait
- Frequent falls (weakness in the muscles)
- Toe walking
- Gower sign
What is Gower sign ?
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
What is the classic sign of Duchenne’s Muscular dystrophy ?
Gower sign
What is the Treatment for Duchenne’s Muscular dystrophy ?
- 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
