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A genetic metabolic disorder that causes CNS damage. Homozygote, autosomal recessive disorder.
What enzyme is deficient in PKU?
What is commonly the first sign of PKU?
Digestive problems with vomiting
Name the signs and symptoms of PKU
- Digestive problems
- Musty odor to urine
- Infantile eczema
- Common in blonde hair/blue eyes
This disorder can adversely affect the myelinization process in CNS development
Patients with PKU should avoid what foods?
Meet, fish, eggs, cheese, milk, legumes, aspartame
Foods children with PKU can eat
Veggies, fruits, starches, milk substitutes
What is a common manifestation associated with GH deficiency?
Possible underlying causes to GH deficiency
- Brain Tumors
- Turner Syndrome
- Prader-Willi Syndrome
- Renal Disease
- Inflammatory Bowel Disease
Manifestations of GH deficiency
- Height less than 5th percentile of age and sex
- Delayed Puberty
- Diminished muscle mass
- Increased adiposity
- High-pitched voice
Children lacking more than one hormone produces by the pituitary gland are referred to as having what?
Children growing less than ________ per year should be referred to an endocrinologist.
How is synthetic growth hormone administered?
- Sub Q
- 6-7 times per week
- Usually at bedtime
- Done for 1 year
How often should a child with GH deficiency be evaluated?
Every 3-4 months
When should GH therapy be discontinued?
When child reaches appropriate adult height or when growth plates close
An autoimmune condition in which excessive thyroid hormones are produced by an enlarged thyroid gland.
Which gender is more likely to have Grave's Disease?
Girls are 5x more likely
What is the peak age for acquiring Grave's Disease?
11-15 years old
Manifestations of Grave's Disease
- Increased appetite
- Wight loss
- Heat intolerance
- Increased HR
- Muscle weakness
- Poor attention span
In Graves Disease, Serum T4 will be ___ and TSH will be ___.
- Elevated T4
- Suppressed TSH
What is the treatment of choice for children with Grave's?
- Antithyroid Drug Therapy
Name key points in Radioactive Iodine treatment of Grave.
- Oral solution
- Typically used in children older than 10
What is given to a patient having a thyroidectomy 10-14 days before the surgery to decrease gland's vascularity?
Lugol's Solution (potassium iodine)
What level should be specifically monitored after removal of thyroid gland?
Calcium. Injury to the parathyroid gland can result in hypocalcemia
Important considerations for children taking propylthiouracil.
- Taken 2-3 times a day
- Monitor for fever, rash,joint pain, edema, and excessive bruising
- Increased risk for neutropenia and hepatotoxicity
How often should child be evaluted while undergoing treatment for Graves?
Every 2-4 months
Due to possible liver damage, contact sports should be limited during treatment of this disease.
S/S of Congenital Hypothyroidism
- Skin mottling
- Large fontanel
- Large tongue
- Slow reflexes
- Distended ab
- Prolonged Jaundice
- Cool to touch
- Umbilical hernia
- Hoarse cry
With congenital hypothyroidism, the T4 levels will be ___ and the TSH will be ___
- T4 will be low
- TSH will be high
How often are children with Hypothyroidism evaluated during their first year of life?
every 1-2 months
What measurements should the nurse obtain at every visit in the child with congenital hypothyroidism?
Height, Weight, Head circumference
What should the parent do if a child vomits within one hour of administering levothyroxine?
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