Alterations in Metabolism

1
Alterations in Metabolism

• Wong, pp 320-325 Chapter 38

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Inborn Errors of Metabolism

• Congenital Hypothyroidism
• Phenyketonuria
• Galactosemia

• Routine neonatal screening

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Inborn Errors of Metabolism

• Congenital Hypothyroidism-condition present from
  birth
• 14000 live births
• Untreated HC leads to mental retardation

4
Inborn Errors of Metabolism

• Phenyketonuria inherited disorder
• 110,000 to 25,000 live births
• Rare in African Americans, Japanese and Jewish
  populations

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Inborn Errors of Metabolism

• Galactosemia rare autosomal recessive disorder
• 150,000 live births

6
Pituitary Disorder

• Hypopituitarism
• Pituitary Hyperfunction
• Precocious Puberty
• Diabetes Insipidus

7
Pituitary Disorder

• Precocious Puberty in boys, secondary sexual
  characteristics 9 years in girls, onset of
  breast development before 8 years

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Pituitary

• Diabetes Insipidus excretion of large amounts
  of dilute urine due to insufficient function of
  antidiuretic hormone

9
Hypothyroidism

• Congenital or acquired metabolic disorder
  resulting in absent or insufficient production of
  thryoxin by thyroid gland
• Affects multiple systems may nonspecific signs
  and symptoms severity depends on age of onset
  and degree of thyroid deficiency

10
Hyperthyroidism

• Excessive production and secretion of thyroid
  hormone by thyroid gland resulting in increased
  basal metabolism, goiter, autonomic nervous
  system disorder, and problems with creatinine
  metabolism

11
Parathyroid Disorder

• Hypoparathyroidism
• Hyperparathyroidism

12
Adrenal Disorders

• Acute Adrenocortical Insufficiency
• Addisons disease
• Cushing Syndrome
• Congenital Hyperplasia

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Adrenal Disorders

• Acute Adrenocortical Insufficiency inadequate
  production and secretion of adrenal hormones
• Adrenal crisis may be life-threatening

14
Adrenal Disorders

• Cushing Syndrome Excess cortisol secretion by
  adrenals (hypercortisolism)
• S/S slowed growth and development, obesity,
  emotional lability, delayed puberty, easy bruising

15
Diabetes Mellitus

• IDDM, Type 1 destruction of beta islet cells of
  pancreas uncommon in infancy and toddlerhood
• Peaks occur between 5 and 7 years and at time of
  puberty peaks occur 10-12 girls, 12-14 boys

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Diabetes Mellitus

• Description
• Etiology
• Assessment
• Diagnosis

• Plan Implementation
• Interventions
• Medication Therapy
• Family Education

17
Diabetes Mellitus

• Description
• Etiology
• Assessment
• Diagnosis

• Plan Implementation
• Interventions
• Medication Therapy
• Family Education

18
Diabetes Mellitus

• Description
• Etiology
• Assessment
• Diagnosis

• Plan Implementation
• Interventions
• Medication Therapy
• Family Education

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Medications

• Humalog
• Regular
• NPH
• Lente
• Ultralente
• Insulin storage

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Developmental Issues

• Preschoolers
• School-age
• Adolescents

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Hypoglycemia

• Causes too much insulin, inadequate or missed
  meals, strenuous exercise without increased
  intake
• S/S blood glucose levels drop below normal,
  diaphoresis, tremors, hunger, weakness, pallor,
  dizziness, coma and convulsions, death

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Hyperglycemia with Ketoacidosis

• Causes insufficient insulin, infection or other
  illness may contribute to the development
• S/S blood glucose 250, glycosuria and
  ketonuria, kussmaul respirations, acetone breath,
  dehydration, weight loss, tachycardia, decreased
  level of consciousness, death