NURS356 Exam 2 Study Guide Altered Endocrine and Metabolic Function Inborn Errors of Metabolism Most are autosomal recessive conditions resulting in altered biochemistry Enzyme abnormalities result in an accumulation of a reactant that may have toxic effects on the infant always impacts growth and development Diagnosed shortly after birth Metabolic screening panels HMD metabolic panel PKU done nationwide Newborn screen most effective way to pick up on conditions that may negatively impact growth and development Phenylketonuria PKU Defect in hydroxylation of phenylalanine to form tyrosine dietary phenylalanine builds up in blood resulting in brain damage mental retardation if not diagnosed complication mental retardation all US babies tested at birth heel stick babies must be at least 48 hours old and fed if the baby goes home earlier must go back to doctor for this Assessment test blood as newborn musty odor urine test urine color amount and odor Intervention diet NO phenylketones limit brain damage and mental retardation NO aspartame for people with PKU Autosomal recessive both parents are carriers for the gene Amino acid and protein metabolism Avoid mental retardation through dietary considerations CAN T HAVE diet soda diet products CAN T HAVE high protein beans dairy milk meat fish nuts legumes eggs wheat anything with aspartame CAN HAVE low protein veggies fruit sugars special breaks cookies crackers Galactosemia Autosomal recessive Galactose fails to be converted into glucose builds in blood spills to urine results in liver failure renal tubular problems cataracts can lead to organ damage is not diagnosed Assessment test blood as newborn Profound mental retardation 1 NURS356 Exam 2 Study Guide 3 weeks of life hyperbilrubiemia lack tone and spunk as baby brought to NICU looks like they may have an infection at first Intervention diet eliminate dietary galactose lactose free No milk cheese Complications if diet not followed Speech disorder learning difficulty neurological problems women ovarian failure Deficient Pituitary Hormone Hypopituitarism causes decreased growth hormone resulting in small stature must be assessed carefully can be idiopathic or from cranial problem look at child s history especially growth as plotted on growth curves usually well nourished short stature but normal body proportion Interventions growth hormone support Give hormone at the right time before ephisial plates closed Look at bone studies growth retardation Growth clinics in children s hospitals Gigantism or Acromegaly Hypersecretion of pituitary hormone which may be caused by a pituitary tumor or hyperplasia of the pituitary cells presentation dependent on whether epiphyseal plates close gigantism hypersecretion BEFORE the plate closes acromegaly AFTER the plate closes large hands feet nose tongue jawline Assessment bone studies history Intervention radiation sometimes used Significant social and emotional support Long bones need to be supported by muscles but this may not always happen Cretinism Decreased secretion of thyroid hormones slows basal metabolic rate mental retardation can develop if not caught early short stature with thick neck enlarged tongue hypotonia poor muscle tone blood test decreased serum T3 and T4 level premature population has lots of thyroid problems Intervention administer thyroid hormone give supplemental vitamin D to prevent rickets Thyroid hormone alone rickets 2 NURS356 Exam 2 Study Guide The Child With Diabetes What is Diabetes Diabetes is complete or partial deficiency of insulin the most common metabolic disease Symptoms relate to insulin deficiency or insulin resistance Controlled not cured Disease requires significant self care NURSING S ROLE Etiology of Diabetes Type 1 majority in pediatrics Unknown genetic predisposition 50 have genetic marker Exposure to stressor viral infection that triggers autoimmune response Autoimmune response attacks Islet cells destroys beta cells cells that secrete insulin insulin no longer produced HLA antigens causes defect in immune system Kid must have precipitating event Nephropathy 1 issue Family history No insulin Occurs at any age Kids peak 7 15 yrs Manifestations urinate a lot thirsty hungry weight loss ketoacidosis history of symptoms short acutely ill quickly Type 2 Polygenic Lifestyle issues nutrition sedentary obesity inactivity No HLA antigens History of IGT or GDM Insulin resistance Manifestations OBESITY Acanthosis nigicans folds of skin much darker African Americans Longer history of symptoms Lipid disorders hypertension Job as nurse most important role teaching A patient develops diabetes as an adolescent The client is obese and is insulin resistant This is most likely 3 NURS356 Exam 2 Study Guide A B C D Type 1 Type 2 Gestational MODY Type 1 Case Study G G is a 5 year old On a trip to Disney parents noted he wanted a soda every hour He was tired and pale using the bathroom a lot He had a large appetite but recently has complained of nausea and a frequent belly ache Mom noted his breath smelled sweet and face looked thin He is brought to the clinic when he gets home referred to endocrinology Fruity breath DKA Assessment of Symptoms Hyperglycemia Polyuria enuresis Polydipsia thirst Polyphagia weight loss malnutrition Glycosuria ketonuria serum glucose exceeds renal threshold Blood 180 Acetone breath ketonemia Mimic viral illness that child already had Visual disturbances Irritability fatigue Dehydration dry skin intracellular volume decreases and urine output increases dehydration increased drinking Abdominal pain What Do You Ask a Child Drinking patterns peeing Sleeping extra tired Hunger Pain h a irritable Weight loss blurred vision Management of Type 1 Tight control child w o insulin needs support for rest of life Prevent acute chronic complications Team approach school nurse family child Admitted to hospital as new diagnosis 4 NURS356 Exam 2 Study Guide Challenges Combination Rx insulin exercise stress management diet monitoring Developmental issues Diabetic Ketoacidosis DKA Progressive complication of Type I Insulin deficit causes fat to break down Results in a form of metabolic acidosis with clinical manifestations of dehydration ketones with resulting acidosis depresses the CNS which can lead to death if not treated Treatment strategies focus on hyperglycemia while correcting fluid electrolytes Can result in shock coma and death Prevent dip for ketones monitor assess Pediatric Insulin Therapy Titrated to