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N114 Metabolic
N114 - Metabolic dysfunction
| Question | Answer |
|---|---|
| What is Phenylketonuria (PKU)? | A genetic diseased caused by the absence of the enzyme needed to metabolize the amino acid phenylalnine. It is an inherited autosomal-recessive trait. |
| What enzyme is absent in PKU? | The hepatic enzyme phenylalnine hydroxylase is absent. |
| What occurs in the body with PKU? | Phenylalanine hydroxylase is absent and normally controls the conversion of phenylalanine to tyrosine. |
| What does the absence of phenylalanine hydroxylase result in? | It results in the accumulation of phenylalanine in the bloodstream and urinary excretion of abnormal amounts of its metabolites the phenyl acids. |
| What is phenylpyruvic acid responsible for? | The musky odor of urine associated with the disease. |
| What is tyrosine needed for? | It is needed to form melanin & the hormones epinephrine & thyroxin. Decreased melanin results in the blond hair, blue eyes & fair skin of children affected with PKU. |
| What can the accumulation of phenylalanine & decreased neurotransmitters lead to? | It affects normal brain & CNS development. Mental retardation occurs before metabolite is detected in the urine. |
| What are the symptoms of PKU? | Failure to thrive, frequent vomiting, irritability, musty body odor, hyper activity & unpredictable erratic behavior. |
| How is PKU diagnosed? | Guthrie blood test - bacillus subtilis present in culture medium grows if blood contains excessive amount of phenylalanine. |
| How is the test for PKU done? | Only fresh heel blood can be used. Infant must have ingested a source of protein prior to the test; minimum of 24 hrs after beginning feedings - usually done on day of discharge. |
| How is PKU managed? | Dietary management is key. Daily intake of 20-30 mg/kg phenylalnine per day. Too much = brain damage, too little = growth retardation |
| Is breastfeeding allowed with PKU? | Yes - breast milk has a low phenylalanine level. |
| What is restricted in a PKU diet? | High protein foods are either eliminated or restricted - meat, dairy, dry beans, nuts & eggs. |
| What sweetener is not allowed with PKU? | Aspartame - NutraSweet or Equal |
| What is congenital hypothyroidism? | Reduced rate of metabolism caused by low levels of the thyroid hormones T3 & T4. Early detection & treatment can prevent cretinism - severe mental retardation. |
| What can cause congenital hypothyroidism? | Caused by defect during embryonic development of thyroid or error of thyroid hormone syntheses & pituitary dysfunction |
| What are the common signs of congenital hypothyroidism? | Majority of infants are asymptomatic, neonatal signs are large posterior fontanel, umbilical hernia, constipation & prolonged jaundice. |
| What are other symptoms of congenital hypothyroidism? | Pallor, cool, dry scaly skin, enlarged tongue, swollen eyelids, feeding difficulties, delayed mental responsiveness, hypotonia, hypoactivity |
| How is congenital hypothyroidism diagnosed? | A thyroxin level is performed and if found low the thyroid stimulating hormone is measured. A low T4 (thyroxin) and high TSH indicate congenital hypothyroidism. |
| How is congenital hypothyroidism managed? | Lifelong thyroid hormone replacement therapy is needed. |
| How is acquired hypothyroidism different? | It is recognized after the age of 2, it is a condition where there are inadequate thyroid hormones. |
| What causes acquired hypothyroidism? | Commonly caused by an autoimmune disorder. Antibodies develop against the thyroid gland. It becomes inflamed and is progressively destroyed. |
| What are other symptoms of acquired hypothyroidism? | Goiter, decreased growth rate, weight gain, constipation, dry skin, thinning or coarse hair, fatigue, cold intolerance, edema of face, eyes & hands, elevated cholesterol |
| How is acquired hypothyroidism diagnosed? | Serum thyroid function test will reveal a low T4 and elevated THS. |
| What is Turner's syndrome? | Absence of one of the X chromosomes in females. |
| What are the signs of Turners syndrome? | Webbed neck, low posterior hairline, widely spaced nipples, edema of hands & feet. |
| What are other signs of Turners? | Short stature, sexual infantilism (delay of development of secondary sexual characteristics), amenorrhea - this girls will be sterile. |
| What treatments is used for Turners? | May administer growth hormone to increase height, estrogen therapy to promote development of secondary sex characteristics. |
| What is Type I diabetes? | It is an autoimmune disease. Exposure to viruses or chemicals initiates a response by the immune system that damages and destroys the beta-cells of the pancreas. |
| What occurs with Type I diabetes? | With deficiency of insulin, glucose is unable to enter the cell and remains in the bloodstream - hyperglycemia. |
| What are the symptoms of Type I diabetes? | Polyuria, polydipsia & polyphagia, weight loss & dehydration. Excessive urination to remove glucose, excessive thirst to replace fluids lost to urination, excessive hunger to replace fat & protein stores depleted. |
| How is diabetes diagnosed? | Based on serum glucose levels - fasting glucose level of >126 or random level ≥ 200 plus the classic signs of polyuria, polydipsia & polyphagia. |
| How is type 1 diabetes treated? | Requires insulin, diet, exercise & home glucose monitoring. |
| How is diabetes monitored? | Long term glucose control is tested by hemoglobin A1c (HbgA1c) testing. It reflects the blood glucose levels during the past 2 to 3 months. |
Created by:
jrb265
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