8.6 Phenylketonuria (PKU) and Diabetes Flashcards
Phenylketonuria (PKU)
- Autosomal recessive
- Affects bodies ability to use protein
- Deficiency in liver enzyme used to break down amino acids and phenylalanine into tyrosine (responsible for melanin, epinephrine, T4 production)
- The body will buildup with phenylalanine because it cannot break down. Toxic levels cause CNS damage and growth failure (mental retardation, low IQ, microcephaly, failure to thrive)
Treatment
- During infancy we give special formula and diet low in phenylalanine
- Older children should avoid food such as aspartame and high protein foods (milk, dairy, meat, fish, eggs, bean, nuts)
PKU Diagnosis
- Assessed during newborn screening 48 hours after birth
- Monitor intellectual, neurological, and physical development
Diabetes
- More likely to happen in AA and Hispanic
- Type 1 more common in Caucasians
- Strongly genetic
Pediatric Differences Diabetes
- Type 1 is most common
- Environmental trigger stimulates genes to initiate an autoimmune response to destroy pancreatic islet cells.
- Peaks around 4-6 years and 10-14 years
- Children with type 1 diabetes are at greater risk for developing other autoimmune disorders
- Type 2 is on the rise due to childhood obesity and is typically diagnosed in adolescents
Type 1 vs Type 2
Type 1 (Juvenile Diabetes)
- Pancreatic beta cells are destroyed
- Insulin Deficient
Type 2
- Insulin resistant - Body does not use insulin properly.
Type 1 Diabetes
- Insulin pushes glucose from the vascular space into cells
- Glucose builds up in the blood in Type 1 DM due to lack of insulin. Blood becomes hypertonic which pulls fluid into the vascular space out of cells. Kidneys must filter extra glucose and fluid, which is what causes polyuria and polydipsia.
- Because cells are starving for energy, they break down fat and protein because they cannot use glucose (this causes polyphagia)
- When fat is broken down, it creates ketones (an acid) which may cause metabolic acidosis.
S/S
- Polyuria
- Polydipsia
- Polyphagia
- Tend to be underweight
Treatment
- Insulin injection (SubQ)
Type 2 Diabetes
- Associated with obesity and insulin resistance
Risk Factors
- Low physical activity
- High fat diets
- Family history
- Either does not have enough insulin or body is resistant to insulin
- Typically these children are overweight
- They cannot make enough insulin to keep up with glucose load of diet, but pancreas still works enough to not need to breakdown fat (so they are not at risk of acidosis)
Clinical Manifestations
- Gradual onset
- Mild/absent polyuria/polydipsia
- Acanthosis Nigricans (hyperpigmentation’s and thickening of skin folds in legs, elbows, knees)
- Main Comorbidity is Obesity
Diabetic Ketoacidosis (DKA)
- Body has severe lack of insulin (no glucose available for metabolism) so protein and fat are broken down for energy. Blood sugar goes extremely high.
- Ketones are formed from the breakdown of fat which is a strong acid and can cause acidosis
- Due to acidosis and cell death, serum potassium goes up (hyperkalemia) and cellular potassium goes down.
- Anything that increases blood sugar can cause DKA (infection, illness, skipping insulin)
S/S
- Dehydration
- Electrolyte imbalance
- Coma/Death
Glucose may be 600-1000
Blood Glucose
- Goal of glucose for DM is between 80-100
A1C - 3 month measurement of glucose which is a great picture of how well a child manages their blood sugar
- Injection sites should be used away from muscles that are used. Muscle contraction hastens absorption of insulin.
Diabetes Lifestyle
Exercise
- Lowers blood glucose
- Before exercise patients should check their glucose (needs to be normal before exercise). Eat something before exercise to prevent hypoglycemia, and exercise when blood glucose will be at its highest. You should exercise at the same time everyday
Diet
- Majority of calories should be from complex carbs, then fat, then protein (10-20% of diet because of possible kidney issues filtering protein due to excessive stress from excess glucose)
- High fiber to maintain steady blood glucose (slows down glucose absorption and prevents sharp rise and fall in glucose)
S.I.C.K Day Protocol
- If you are sick, body has increased glucose demands
- Continue taking insulin whether they are eating or not
S (Sugar) - Monitor glucose every 2-3 hours and call provider if glucose goes above 240
I (Insulin) - Continue to take insulin as usual. Dose is determined based on weight
C (Carbs) - Make sure you are taking in enough carbs and fluids when sick.
K (Ketones) - Check blood ketone levels every 4 hours
Insulin
Rapid Acting - Onset of 15 minutes, peaks at 30-90 minutes
Regular Insulin (short acting) - Onset of 30-60 minutes and peaks at 2-4 hours
NPH Insulin (Intermediate) - Onset of 2-6 hours and peaks at 4-14 hours
Long Acting Insulin - Onset of 6-14 hours with no peak and lasts 24 hours (typically given at night and cannot be mixed with other insulins)
Peak hours is usually when blood glucose is at its lowest
Insulin Management
Baseline Level
- Same dose given at the same time each day
Sliding Scale
- Dosage of insulin is based on blood sugar measurement at the time
Carb Count Scale
- Insulin dosage is based on how many carbs you eat
Hypoglycemia
- Hypoglycemic Episode
Manifestations
- Cold
- Confused
- Shaky
- Nervous
- High HR
- Patient must eat or drink simple sugar like juice and follow it up with some sort of complex carb or protein (peanut butter, cheese and crackers)
- DO NOT GIVE FOODS HIGH IN FAT BECAUSE GLUCOSE ABSORPTION IS DELAYED DUE TO THIS (do not give cookies because it is high in fat)
Hyperglycemia
Manifestations
- Tired
- Thirsty
- Hot
- Dry Mouth
- 3 P’s (Polyuria, Polydipsia, Polyphagia)
- Most often complications evolve hypoglycemia
