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CH. 51 The Child with an Endocrine or Metabolic Alteration PODCAST

Terms in this set (37)

-typically called PKU test even though screens for many disorders; autosomal recessive disorder, both parents need to give the recessive gene to child and child has a 25% chance of getting it; genetic metabolic disorder causes CNS damage from dtoxic levels of phenylalanine in blood; deficiency of phenylalanine hydroxylase enzyme that converts it to tyrozene a usable form (phenylanine is unusable); may not know child has it until about 3 mo of age when exhibit digestive problems, vomiting, musty or mousy odor to urine, infantile excema, hypertonia and hyperactive behavior; mandatory screening; treated with a special diet restricting phenylalanine "caution phenylkotronics" proteins, restrict it not completely remove it bc it is essential, have to get enough but not too much of it; restricting protein is one way to do that, child will be on lifelong diet with or without meds; kuvan is med of choice that decreases phenylalanine levels; at one time docs recommended that once they become adults they no longer had to follow diets, but women were conceiving and becoming pregnant and phenylalanine levels skyrocketed and children had poor effects; not recommended that they stay on the lifelong diet but they need to control those levels and watch carefully when pregnant; can effect infants with mental deficiency, microencephaly, retarded growth,sezirues, increased risk of structural defects longterm untreated pku can start at 2 weeks of age, cause brain damage and mental retardation; feed baby low phenylalanine formulas; will not have fetal ketonuria
- pancrease unable to produce and secrete insulin, increasing in incidence, diag in earlier age, more African americans being diag than whites; most common childhood endocrine disorder; at diagnosis unless child severely ill may not be hospitalized so teaching may need to be outpatient; inflammatory process in iselet cells of pancreas from autoimmune process that causes distruction of these cells so they create no insulin; cause unknown could be environmental, viral, dietary toxins, diff chemicals child exposed to; kids are prone to developing other autoimmune such as graves disease, hashimotos thyroiditis or celiac disease; might see a child with type one that also has hyper or hypo and may have allergy to wheat; watch for those things and educate the family; something that helps maintain are growth hormones; classic signs of type 1 are the 3 p's, polyuria, polydipsia, polyphasia; typically not gaining weight; weight loss, fatigue, blurred vision; may be recognized or not; kid hungry and going to potty a lot may not indicate that anything is wrong; so have to be aware; diagnosed with an elevated A1C, random glucose or fasting serum glucose; A1C gives 3 month summary, looking at red blood cells over 3 mo summary bc that is the life span of the blood cell; if random glucose is over 200 that is of concern; a fasting glucose over 126 needs to be watched as well; if untreated child can go into diabetic ketoacidosis, n/v, abdominal pain, fruity acetone breath, dehydration, increased lethargy, resp rate irregular and labored, may go into coma; can be very serious situation.