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Congenital Adrenal Hyperplasia

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Congenital Adrenal Hyperplasia Includes a group of disorders, each characterized by a deficiency of one of the enzymes needed to make cortisol – PowerPoint PPT presentation

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Title: Congenital Adrenal Hyperplasia


1
Congenital Adrenal Hyperplasia
  • Includes a group of disorders, each characterized
    by a deficiency of one of the enzymes needed to
    make cortisol
  • Autosomal recessive condition
  • More than 90 of the cases in children are
    caused by a partial or complete 21-hydroxylase
    enzyme deficiency

2
Cortisol
  • Maintenance of blood sugar levels
  • Partial maintenance of body fluids and
    electrolytes
  • Protection of the body against stress

3
Normal Adrenal Function
  • Adrenal gland composed of two regions
  • The inner region (the medulla) produces
    adrenaline
  • The outer region (the cortex) produces adrenal
    steroid hormones
  • Three types of adrenal steroids
  • Glucocorticoids
  • Mineralocorticoids
  • Androgens
  • Androgens are produced in abnormal amounts in
    children with congenital adrenal hyperplasia (CAH)

4
Cortisol
  • The pituitary gland located at the base of the
    brain produces ACTH, which activates the adrenal
    glands to produce cortisol.
  • When cortisol levels in the blood are too high,
    ACTH production stops so that cortisol production
    returns to normal.
  • When cortisol in the blood is too low, ACTH
    production increases until cortisol
    concentrations return to normal.
  • Cortisol production doubles or triples at the
    time of medical, surgical, or psychological
    stress.

5
Aldosterone
  • Aldosterone secretion is under the control of
    angiotensin.
  • Angiotensin is under the control of renin, which
    is produced by the kidneys.
  • When aldosterone is too low, sodium chloride
    levels in the blood fall, as does total body
    water, which leads to an increase in renin. This
    in turn causes an increase in angiotensin
    production and a subsequent return of aldosterone
    concentrations to normal.
  • When aldosterone is too high, serum sodium, total
    body water, and blood pressure increase,
    resulting in decreased renin and angiotensin
    production until aldosterone returns to normal.

6
Adrenal Androgens
  • Responsible for the development of pubic and
    axillary hair in girls
  • Testicular androgens play the major role in male
    masculinization

7
Adrenal Function and 21-Hydroxylase Deficiency
  • Three forms of 21-hydroxylase deficiency
  • Salt losing
  • Simple virilizing
  • Late onset or nonclassic

8
Salt-Losing Form of CAH
  • Near-total deficiency of the 21-hydroxylase
    enzyme
  • Results in the complete inability to produce
    cortisol and aldosterone

9
Salt-Losing Form of CAH
  • No cortisol hypoglycemia
  • No aldosterone salt and water loss
  • Increased cortisol precursors (17-hydroxyprogeste
    rone) salt-losing tendency
  • Increased androgens masculinization

10
Simple Virilizing Form of CAH
  • Partial deficiency of the 21-hydroxylase enzyme
  • Near-normal or normal amounts of cortisol
    produced in response to increased ACTH output
  • Adrenals are able to increase production of
    aldosterone to compensate for salt loss

11
Simple Virilizing Form of CAH
  • Normal or near-normal cortisol level
  • Increased cortisol precursors (17-hydroxyprogeste
    rone)
  • Increased aldosterone to compensate for
    salt-losing tendency
  • Increased androgens masculinization

12
Adrenal Androgens in Salt-Losing and Simple
Virilizing CAH
  • Excess androgen production during fetal life is
    associated with salt-losing and simple virilizing
    CAH and masculinizes the external genitalia of
    female infants
  • The simple virilizing form of CAH results in a
    moderate excess of androgen production with
    moderate masculinization of the external
    genitalia in female infants
  • Salt-losing CAH results in greater
    masculinization than simple virilizing CAH from
    greater production of androgens

13
Nonclassic or Late-Onset CAH
  • Refers to a mild deficiency of the 21-hydroxylase
    enzyme
  • Normal amounts of cortisol and aldosterone are
    produced
  • Increased amounts of cortisol precursors
    (17-hydroxyprogesterone) and adrenal androgens
    are produced
  • In boys and girls, results in rapid growth and
    early virilization
  • Masculinization and abnormal menses seen in girls

14
Nonclassic or Late-Onset CAH
  • Normal cortisol
  • Normal aldosterone
  • Increased 17-hydroxyprogesterone (moderate)
  • Increased androgens masculinization

15
Diagnostic Evaluation for CAH
  • Ambiguous genitalia
  • Elevated levels of 17-hydroxyperogesterone
  • Serum electrolytes
  • Serum sodium will be low
  • Serum potassium will be high
  • Karyotype to determine genetic sex

16
Treatment
  • Cortisol or prednisolone administration (oral
    preparations available Cortef tablets and Cortef
    suspension Pediapred syrup)
  • Oral dosage is divided to simulate the normal
    diurnal pattern of ACTH secretion
  • Children with salt-losing form require
    aldosterone replacement
  • Preparation for salt-retaining hormone treatment
    is Florinef once or twice daily

17
Nursing Considerations
  • Recognition of ambiguous genitalia in the newborn
    and notification of parents of discovery
  • Assessment for signs of dehydration, electrolyte
    imbalance, and shock in the salt-wasting form of
    the disease
  • Assessment of vital signs and peripheral perfusion

18
Inborn Error of Metabolism
  • Includes a large number of inherited diseases
    caused by the absence or deficiency of a
    substance essential to cellular metabolism,
    usually an enzyme
  • Absence of a missing enzyme results in an
    accumulation of substances that precedes the
    interruption the consequence is manifested as an
    illness
  • Most are characterized by abnormal protein,
    cholesterol, or fat metabolism
  • Examples include phenylketonuria and galactosemia

19
What Is Diabetes Mellitus?
  • The inability of the body to produce or respond
    properly to the hormone insulin
  • Results in a malfunction of carbohydrate,
    protein, and fat metabolism

20
Types of Diabetes
  • Type 1 diabetes
  • Called insulin-dependent diabetes mellitus or
    juvenile-onset diabetes
  • Usually strikes children and young adults,
    although disease onset can occur at any age
  • May account for 5 to 10 of all diagnosed cases
    of diabetes
  • Type 2 diabetes
  • Called non-insulin-dependent diabetes mellitus or
    adult-onset diabetes
  • Associated with older age, obesity, family
    history of diabetes, history of gestational
    diabetes, impaired glucose metabolism, physical
    inactivity, and race/ethnicity
  • Increasingly being diagnosed in children and
    adolescents

21
Diagnosis
  • Acute symptoms of diabetes plus causal plasma
    glucose concentration of 200 mg/dL or more
  • Fasting plasma glucose concentration of 126 mg/dL
    or greater
  • 2-hour plasma glucose is
  • 200 mg/dL or greater during an oral glucose
    tolerance test

22
Type 1 vs Type 2 Diabetes Mellitus
  • Type 1
  • Insulin deficiency
  • Abrupt onset
  • Ketosis prone
  • Generally not obese
  • Insulin dependent
  • Not responsive to oral agents
  • Onset usually 18 years or younger
  • Type 2
  • Insulin resistance
  • Insidious onset
  • Not prone to ketosis
  • Usually obese
  • Noninsulin dependent
  • Responsive to oral hypoglycemic medications
  • Onset usually in adults but seen in obese
    adolescents

23
Type 1 Diabetes
  • Incidence 15 per 100,000 people in North America
  • Peak ages of onset between 10 and 12 years of
    age in girls and 12 to 14 years of age in boys
  • Risk increases if the child or adolescent has a
    first-degree relative or identical twin with
    disease
  • Type 1 diabetes may show a familial tendency
  • Theories for disease development include genetic
    components, environmental influences such as
    viruses, and an autoimmune response that causes
    the destruction of insulin-secreting cells of the
    pancreas in the islets of Langerhans

24
Type 1 Diabetes
  • Pathophysiology
  • 90 of the insulin-secreting cells of the
    pancreas are progressively destroyed
  • Absence of insulin available for metabolism of
    cholesterol causes fats and proteins to be burned
  • Excess amount of unused cholesterol causes
    hyperglycemia
  • Ketones are produced as a byproduct of fat
    metabolism
  • Ketones cannot be used by the cells in the
    absence of insulin
  • Ketones accumulate in the blood, causing
    metabolic acidosis and ketonuria

25
Pathophysiology of Type 1 Diabetes Mellitus
26
Type 1 Diabetes
  • Clinical manifestations
  • Polyphagia, polydypsia, and polyuria (3 Ps)
  • Unexplained weight loss
  • Blurred vision
  • Lack of energy
  • Diminished reflexes
  • Irritability
  • Nausea and vomiting
  • Fruity odor of breath
  • Kussmaul respirations

27
Insulin Therapy
Name of Insulin Onset of Action Peak Effect after Injection
Humalog/Novolog (very short acting) 5-15 min 30-60 min
Regular/short acting 30 min 2-3 hr
NPH/intermediate acting 1-2.5 hr 6-9 hr
Lente/intermediate acting 2-4 hr 8-12 hr
Ultra Lente/long acting Lantus (glargine)/long acting 4-6 hr None 8-15 hr 24 hr
Combinations 70/30, 50/50, 75/25 30 min 7-12 hr
28
Insulin Therapy
  • Dosage
  • Starting dose
  • Divided as two thirds before breakfast and one
    third before dinner
  • Two thirds as intermediate, one third as short
    or rapid
  • Twice-daily regimen most common

29
Insulin Therapy
  • Rotation of sites
  • Mix insulin from clear to cloudy
  • Inject in subcutaneous tissue
  • Do not premix any insulin unless advised
  • Timing of injections in relation to meals
  • Insulin can be stored at room temperature
  • Only regular insulin may be administered
    intravenously

30
Insulin Delivery Systems
  • Current systems
  • Syringes
  • Insulin pens
  • Insulin pumps
  • Future delivery systems (Not yet FDA approved)
  • Powdered inhalers
  • Nebulizers

31
Monitoring
  • Glucose testing is more accurate and is the
    preferred method of monitoring glucose levels
  • Glycosylated hemoglobin (hemoglobin A1c) level
    is usually measured every 3 months to evaluate
    long-term control
  • The higher the hemoglobin A1c, the poorer the
    control has been over the last 3 months
  • What is the purpose of monitoring?
  • Why is monitoring important in the care and
    treatment of diabetes?

32
Child Monitoring Blood Glucose Level
33
Detection of Type 2 Diabetes in Children
  • Difficult in children
  • It can go undiagnosed for a long time
  • Children often have no symptoms or mild symptoms
  • Criteria for differentiating between types of
    diabetes in children can be confusing
  • Children with type 2 diabetes can develop
    ketoacidosis
  • Children with type 1 diabetes can be overweight

34
Type 2 Diabetes in Children
  • Health care providers are finding more and more
    children with type 2 diabetes, a disease usually
    diagnosed in adults aged 40 years or older.
  • The epidemics of obesity and the low level of
    physical activity among young people may be major
    contributors to the increase in type 2 diabetes
    during childhood and adolescence.
  • Type 2 diabetes in children and adolescents
    appears to be a sizable and growing problem among
    U.S. children and adolescents.

35
Type 2 Diabetes
  • Pathophysiology
  • The body develops a resistance to insulin and no
    longer uses it properly
  • As the need for insulin rises, the pancreas
    gradually loses its ability to produce sufficient
    amounts of insulin to regulate blood sugar

36
Type 2 Diabetes
  • Clinical manifestations
  • Polyphagia
  • Polyuria
  • Polydypsia
  • Fatigue
  • Blurred vision
  • Frequent or slow-healing infections
  • Numbness or tingling in hands or feet
  • Dry, itchy skin

37
Treatment for Type 2 Diabetes
  • Sulfonureas (glyburide or glipizide)
  • these drugs help the beta cells of the pancreas
    increase the release of insulin
  • Biguanides (metformin) the insulin
    sensitizer reduces hepatic glucose production
  • Glitazones (Avandia) enhances insulin action
    in skeletal muscle, adipose tissue, and liver
    can decrease or eliminate the need for insulin in
    type 2 diabetics
  • Alpha-glucosidase inhibitors (Acarbose) reduces
    the rate of digestion of complex carbohydrates
    and the subsequent absorption of glucose

38
Benefits of Regular Physical Activity
  • Helps the body use glucose more effectively
  • Weight loss and maintenance
  • Increases HDL and lowers LDL cholesterol
  • Lowers blood glucose levels
  • Muscular strength
  • Cardiorespiratory (aerobic) fitness
  • Increases bone mass (through weight-bearing
    activities)
  • Relieves anxiety and stress
  • Increases self-esteem

39
Diets
  • No concentrated sweets (use sugar substitutes,
    diet syrups, and diet desserts)
  • Constant carbohydrate diet (carbohydrates are
    based on the number of calories the child needs
    each day)
  • Carbohydrate/insulin ratio (indicates how many
    units of insulin are needed to cover a
    specified number of carbohydrate grams)
  • Exchange diet (divides the foods that can be
    eaten into six groups and measures each food by
    exact serving size)
  • Calorie restriction

40
Complications of Diabetes Hypoglycemia
  • Blood sugar of usually less than 70 mg/dL
  • Clinical manifestations
  • Shakiness, dizziness
  • Sweating
  • Hunger
  • Headache
  • Irritability
  • Pale skin color
  • Sudden moodiness or behavior changes, such as
    crying for no apparent reason
  • Blurred vision
  • Increased heart rate
  • Weakness and fatigue

41
Complications of Diabetes Hypoglycemia
  • Causes
  • Too little food
  • Too much insulin
  • Extra or vigorous exercise
  • Treatment
  • Severe symptoms may require administration of
    intramuscular glucagon
  • Fruit juice, carbonated soda, several hard
    candies
  • Follow with some protein and a complex
    carbohydrate
  • Test and monitor blood sugar once symptoms subside

42
Complications of Diabetes Hyperglycemia
  • Blood glucose greater than 180 mg/dL and stays
    there for several readings
  • Clinical manifestations
  • Extreme thirst
  • Frequent urination
  • Blurred vision
  • Drowsiness
  • Nausea
  • Hunger

43
Complications of Diabetes Hyperglycemia
  • Causes
  • Not enough insulin
  • Larger food intake than usual
  • Less exercise than usual
  • Illness such as cold or flu
  • Stresses from family, school, or personal
    situations
  • Treatment
  • Push sugar-free liquids
  • Insulin
  • Activity

44
Diabetic Ketoacidosis
  • May lead to the initial diagnosis of type 1
    diabetes
  • Often the first symptom that causes the person to
    seek medical attention
  • Pathophysiology
  • Occurs when the body attempts to break down fats
    to release glucose for energy use
  • Ketones produced as a byproduct of fat metabolism
  • Ketones cannot be used by the cells in the
    absence of insulin, causing metabolic acidosis
    and inducing ketonuria
  • Kussmaul respirations develop as the body tries
    to rid itself of carbon dioxide
  • If the acidosis is not corrected acute renal
    failure, severe dehydration, coma, and subsequent
    death may occur

45
Clinical Manifestations of Ketoacidosis
  • Polyuria, polydypsia
  • Fatigue, headache, and signs of dehydration
  • Nausea, vomiting, abdominal pain
  • Lethargy
  • Tachycardia, fever, hypotension
  • Elevated white blood cell count
  • Weight loss
  • Warm, dry skin
  • Kussmaul respirations

46
Diabetes Mellitus
  • Nursing considerations
  • Provide emotional support to both child and
    family, especially if a new diagnosis
  • Continuously monitor vital signs, respiratory
    status, and level of consciousness
  • Monitor hydration status by checking skin turgor,
    urine output, and mucous membranes
  • Administer intravenous fluids as ordered,
    possibly including electrolytes to regulate
    acidosis and continuous insulin infusion

47
Diabetes Mellitus
  • Nursing considerations
  • Strict intake and output
  • Monitor glucose levels with blood or urine
    testing as appropriate
  • When continuous intravenous insulin infusion is
    discontinued, administer subcutaneous insulin as
    ordered

48
Illness Management
  • Continue insulin treatment
  • Children with type 1 diabetes need insulin to
    live. Illness often increases the amount of
    insulin the body needs. Instruct parents that
    insulin should never be withheld.
  • Stay close to the meal planIf the child has an
    upset stomach and cannot eat, give clear liquids
    that contain carbohydrates (sports drinks,
    juices, gelatin, broth, frozen fruit bars).
  • Give plenty of liquidsEncourage the child to
    drink as much water and other noncaffeinated
    beverages as possible.

49
Illness Management
  • Choose medications wisely
  • Many over-the-counter medications contain sugar
    and/or alcohol.
  • Glucose in medications can rapidly add up
    parents should look for a glucose-free version of
    the medication. If unavailable, carbohydrates
    must be accounted for in the meal plan.
  • Medicines that contain alcohol can lower blood
    glucose levels. Ensure the child eats something
    to prevent hypoglycemia.
  • Alcohol-free medicines are best.
  • Many decongestants can raise blood glucose levels.

50
Illness Management
  • Check blood glucose and ketone levels frequently
  • Diabetic ketoacidosis is a danger when the child
    is sick.
  • To prevent the condition or catch it early, check
    the childs blood glucose levels often (every few
    hours) while sick.
  • Check the urine for ketones several times a day.
    If vomiting or diarrhea is present, check ketones
    more frequently.

51
Food for Sick Days
  • An ill child may not want to eat the foods he or
    she normally loves.
  • The ill child must eat to keep the body from
    burning fats for fuel and to speed healing.
  • Food ideas for the sick child with diabetes
    include
  • Fluids
  • 1 double-stick popsicle
  • 1 cup electrolyte sports drink
  • 1 cup soup
  • 1/2 cup fruit juice
  • 1/2 cup regular soft drink (not diet)
  • Solids
  • Crackers
  • Vanilla wafers
  • Graham crackers
  • 1 slice dry toast (not light bread)
  • Mashed potatoes
  • Regular gelatin dessert

52
Long-Term Complications of Diabetes
  • Microvascular problems
  • Neuropathy
  • Retinopathy
  • Nephropathy
  • Macrovascular problems
  • Peripheral vascular disease
  • Atherosclerosis

53
Developmental Issues
  • Infants
  • Very rapid growth
  • Continuing brain development
  • Trusting relationships with the parents
  • Erratic eating habits (food can become a power
    struggle)
  • Erratic sleep patterns
  • Treatment schedule is difficult to keep because
    of feeding and sleeping patterns

54
Developmental Issues
  • Toddlers
  • Can participate in some self-care
  • Look for parental approval while they test their
    limits
  • Show decreased appetite and picky eating habits
    (easily distracted from eating)
  • Begin to show more regular sleep patterns
  • Difficult to distinguish a low blood sugar
    reaction from a normal temper tantrum

55
Developmental Issues
  • Preschool
  • Peer issues begin to emerge
  • Can understand rules
  • Can perform more self-care, including blood tests
    under parental supervision
  • Eating behavior is less erratic
  • Very energetic, so hypoglycemia can be a problem
  • Regular sleep patterns
  • May be more challenging to provide snacks and
    meals that match what siblings and friends eat

56
Developmental Issues
  • School age
  • Fear of being different from other children
  • Can perform most self-care, including blood tests
    and insulin injections
  • Eager to learn
  • Beginning to understand consequences of their
    actions
  • Tests independent decision making
  • Most time spent away from home

57
Developmental Issues
  • Early adolescence
  • Erratic growth, which affects insulin
    requirements
  • Glucose control may be erratic in spite of
    everyones best efforts
  • Concerned about body image
  • Greatly influenced by friends
  • May challenge authority
  • Development of self-esteem
  • Beginning to understand abstract concepts

58
Developmental Issues
  • Adolescence
  • Puberty is well underway
  • Concerned with physical appearance
  • Clearer sense of self (can set goals)
  • Increased autonomy
  • Risk-taking behaviors, including not taking
    insulin and not performing blood sugar tests
  • Many social activities are unpredictable
  • Counseling regarding contraception, alcohol, and
    smoking

59
Resources for Parents and Children
  • American Diabetes Association www.diabetes.org/hom
    e.jsp
  • Children with Diabeteswww.childrenwithdiabetes.co
    m/index_cwd.htm
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