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Acute Care 1 > Metabolic/Pain > Flashcards

Metabolic/Pain Flashcards

1
Q

What type of disorder is phenylalanine hydroxylase (PKU) deficiency?

A

Amino Acid Metabolism Disorders

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2
Q

What can phenylalanine hydroxylase deficiency lead to?

A
  1. Intellectual disability
  2. Hypopigmentation
  3. Eczema
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3
Q

How does phenylalanine affect a fetus?

A

Teratogenic

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4
Q

Why must pregnant women with phenylalanine hydroxylase deficiency maintain phenylalanine levels?

A

Must maintain phenylalanine levels in the treatment range to avoid microcephaly and intellectual disability in their offspring.

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5
Q

Phenylalanine hydroxylase deficiency treatment

A
  1. The limitation of natural protein in the diet
  2. The supplementation of a synthetic amino acid mixture
  3. The frequent monitoring of serum amino acids
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6
Q

Newer phenylalanine hydroxylase deficiency treatment

A
  1. Synthetic cofactor administration (sapropterin)

2. Enzyme substitution therapy (pegvaliase).

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7
Q

What type of disorder is maple syrup urine disease?

A

Amino Acid Metabolism Disorders

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8
Q

What causes maple syrup urine disease?

A

Impaired catabolism of branched chain amino acids due to mutations in one of several different genes.

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9
Q

Presentation of maple syrup urine disease in the first few days of life

A
  1. Altered mental status

2. Abnormal neurological exam

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10
Q

What do acute and chronic encephalopathy result from in maple syrup urine disease?

A

Neurological toxicity due to elevated leucine levels.

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11
Q

Maple syrup urine disease treatment

A
  1. Limitation of natural protein in the diet
  2. Supplementation with medical foods.
  3. Specific intravenous fluid regimens and hemodialysis in severe cases of acute illness
  4. Liver transplant
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12
Q

What type of acute crisis can arise in maple syrup urine disease?

A

Encephalopathic crisis

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13
Q

What is the most common urea cycle disorder?

A

Ornithine transcarbamylase (OTC) deficiency.

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14
Q

What type of disorder is ornithine transcarbamylase (OTC) deficiency.

A

Urea cycle disorder

X-linked

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15
Q

What does the urea cycle do for the body?

A

Allows the body to maintain nitrogen balance by facilitating excretion of urea generated from the amine groups of all amino acids.

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16
Q

What happens with individuals with urea cycle disorders?

A

Both exogenous protein from diet and endogenous protein catabolism in a fasted state can result in hyperammonemia

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17
Q

Treatment of urea cycle disorders?

Goal of treatment?

A

Goal: prevent hyperammonemic episodes

  1. Careful titration of dietary protein intake
  2. Medications that induce nitrogen excretion
  3. The use of intravenous caloric supplementation during fasting and illness
  4. Most urea cycle disorders are treatable with liver transplantation for those patients that fail dietary and pharmaceutical management.
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18
Q

Who is more likely to have ornithine transcarbamylase (OTC) deficiency and why?

A

More prevalent and more severe in males due to x-linked

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19
Q

How is phenylalanine hydroxylase (PKU) deficiency diagnosed?

A

Newborn screening

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20
Q

How is ornithine transcarbamylase (OTC) deficiency diagnosed?

A

Currently, it is not possible to test for OTC on NBS, so providers must maintain clinical suspicion for the disorder.

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21
Q

Clinical presentation of severe ornithine transcarbamylase (OTC) deficiency

A

male infant with encephalopathy, respiratory alkalosis, and hypothermia at a few days of life.

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22
Q

Clinical presentation of less severe ornithine transcarbamylase (OTC) deficiency mutation

A

Present at any age with hyperammonemia at any age male or female

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23
Q

Treatment for acute hyperammonemic crisis in ornithine transcarbamylase (OTC) deficiency

A

Hemodialysis

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24
Q

How are organic acidemias detected?

A

Urine organic acid analysis

Most are included on the newborn screening

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25
Q

Presenting symptoms of organic acidemias

A
  1. Encephalopathy
  2. Hyperammonemia
  3. Acidosis
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26
Q

What causes the symptoms of organic acidemias?

A

The accumulation of lactate and ketone bodies

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27
Q

What type of disorder is methylmalonic acidemia (MMA)?

A

Organic acidemias

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28
Q

What causes methylmalonic acidemia (MMA)?

A

A specific enzyme deficiency in methylmalonate metabolism or from one of several defects in cobalamin (vitamin B12) metabolism.

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29
Q

Treatment for methylmalonic acidemia (MMA)

A
  1. Several types of MMA can respond dramatically to administration of parenteral cobalamin.
  2. Many patients require natural protein restricted diets and carnitine supplementation to prevent metabolic decompensation.
  3. Aggressive support with parental caloric sources is needed during fasting and illness.
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30
Q

What are patients with methylmalonic acidemia (MMA) at risk for during times of metabolic stress?

A

Acute basal ganglia injury

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31
Q

Chronic complications of methylmalonic acidemia (MMA)

A
  1. Developmental delays
  2. Optic neuropathy
  3. Renal failure
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32
Q

What type of disorder is propionic acidemia (PA)?

A

Organic acidemias

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33
Q

Clinical features of propionic acidemia (PA)

A

Similar to methylmalonic acidemia (MMA):

  1. Developmental delays
  2. Optic neuropathy
  3. Renal failure
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34
Q

What type of disorder is glutaric acidemia type I (GA-I)?

A

Organic acidemias

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35
Q

What are individuals with glutaric acidemia type I (GA-I) at risk for and when?

A

Severe acute basal ganglia injury in the setting of fasting and illness prior to age 6 years

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36
Q

How is glutaric acidemia type I (GA-I) diagnosed?

A

Newborn screening

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37
Q

Treatment of glutaric acidemia type I (GA-I)

A

Aggressive parenteral caloric support during illness

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38
Q

Hallmark of glutaric acidemia type I (GA-I)

A

“cerebral organic acidemia” because symptomatic individuals have neurological signs and symptoms without systemic metabolic decompensation.

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39
Q

How is the complication of glutaric acidemia type I (GA-I) treated?

A

Aggressive parenteral caloric support during illness can prevent severe acute basal ganglia injury in the majority of affected children.

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40
Q

What can be seen with glutaric acidemia type I (GA-I)

A
  1. Macrocephaly

2. Occasionally subdural hemorrhage

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41
Q

How are most fatty acid oxidation disorders diagnosed?

A

Newborn screening

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42
Q

Why is mitochondrial fatty acid oxidation important?

A

It is a critical component of the metabolic adaptation to fasting.

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43
Q

What type of disorder is medium chain acyl-CoA dehydrogenase deficiency (MCADD)?

A

Fatty acid oxidation disorder

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44
Q

Symptoms of medium chain acyl-CoA dehydrogenase deficiency (MCADD)?

A

Asymptomatic unless fasting

Hypoglycemia, encephalopathy, and acute liver failure with prolonged fasting.

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45
Q

Treatment for medium chain acyl-CoA dehydrogenase deficiency (MCADD)?

A

Parenteral nutrition during fasting

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46
Q

What type of disorder is very long chain acyl-CoA dehydrogenase (VLCADD)?

A

Fatty acid oxidation disorder

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47
Q

Complications of very long chain acyl-CoA dehydrogenase (VLCADD)?

A
  1. Hypoglycemia with fasting.
  2. Children with severe VLCADD can develop cardiomyopathy in infancy.
  3. Later in childhood, patients with VLCADD get recurrent rhabdomyolysis, requiring intravenous hydration to prevent pigment nephropathy during acute episodes.
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48
Q

Treatment for very long chain acyl-CoA dehydrogenase (VLCADD)?

A
  1. Intravenous hydration to prevent pigment nephropathy during acute episodes.
  2. Infants with severe VLCADD are managed with a fat-restricted diet in addition to avoidance of fasting.
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49
Q

How does carnitine uptake defect (CUD) present?

A

Similar symptoms to the fatty acid oxidation disorders

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50
Q

How does carnitine palmitoyltransferase II deficiency present?

A

Similar symptoms to the fatty acid oxidation disorders

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51
Q

How is carnitine uptake defect (CUD) managed?

A

Similar management to the fatty acid oxidation disorders

1. Supplementation of carnitine to replace renal losses

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52
Q

How is carnitine palmitoyltransferase II deficiency managed?

A

Similar management to the fatty acid oxidation disorders

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53
Q

Cause of carnitine palmitoyltransferase II deficiency

A

Disorder of carnitine metabolism and transport

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54
Q

Cause of carnitine uptake defect (CUD)

A

Disorder of carnitine metabolism and transport

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55
Q

What type of disorder is Gaucher disease (glucocerebrosidase deficiency)?

A

Lysosomal disorder

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56
Q

How is lysosomal disorders diagnosed?

A

Newborn screening coverage of lysosomal disorders varies widely by geographical region

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57
Q

Cause of Gaucher disease (glucocerebrosidase deficiency)

A

Partial enzyme deficiency

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58
Q

Manifestations of Gaucher disease (glucocerebrosidase deficiency)

A
  1. Hepatomegaly
  2. Splenomegaly
  3. Pancytopenia
  4. Bone lesions
  5. Poor growth
  6. Fatigue.
  7. Progressive neurodegeneration with more severe enzyme deficiency
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59
Q

Treatment of Gaucher disease (glucocerebrosidase deficiency)

A

Enzyme replacement therapy or oral substrate reduction therapy

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60
Q

What type of disorder is Fabry disease (alpha-galactosidase deficiency)?

A

Lysosomal disorder

X-linked disorder

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61
Q

Symptoms of Fabry disease (alpha-galactosidase deficiency)?

A 
Only in males during childhood:
1. Heat intolerance
2. Abdominal pain
3. Acroparesthesias
4. Angiokeratomas of the skin in childhood. 
Adults with Fabry disease are at risk for: 
1. Renal failure
2. Cardiomyopathy
3. Thrombotic stroke
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62
Q

Treatment for Fabry disease (alpha-galactosidase deficiency)?

A

Enzyme replacement therapy and oral chaperone therapy for some specific mutations.

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63
Q

What type of disorder is Mucopolysaccharidosis I (Hurler syndrome or MPS-I)?

A

Lysosomal disorder

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64
Q

Cause of Mucopolysaccharidosis I (Hurler syndrome or MPS-I)?

A

Accumulation of mucopolysaccharides in the lysosomes

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65
Q

Manifestations of Mucopolysaccharidosis I (Hurler syndrome or MPS-I)?

A
  1. Skeletal dysplasia
  2. Characteristic facial features
  3. Recurrent otitis media
  4. Macrocephaly
  5. Cardiac valvular disease
  6. Abdominal organomegaly.
  7. Neurodegenerative course in more severe enzyme deficiency that can be altered with bone marrow transplantation.
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66
Q

Treatment for Mucopolysaccharidosis I (Hurler syndrome or MPS-I)?

A
  1. Bone marrow transplantation to alter neurodegenerative course
  2. Enzyme replacement therapy for some aspects of disease
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67
Q

What causes glycogen storage disorders (GSDs)?

A

Defects in the enzymes of glycogenolysis

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68
Q

Symptoms of glycogen storage disorders (GSDs)?

A

Dependent on the tissue distribution of the specific enzyme that is deficient.

  1. Hepatomegaly,
  2. Hypoglycemia
  3. Rhabdomyolysis
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69
Q

What type of disorder is GSD1a (glucose-6-phosphatase deficiency)?

A

Glycogen storage disorder (GSD)

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70
Q

Symptoms of GSD1a (glucose-6-phosphatase deficiency)?

A

Severe hypoglycemia with relatively short fasting

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71
Q

Cause of symptoms of GSD1a (glucose-6-phosphatase deficiency)?

A

Both gluconeogenesis and glycogenolysis are impaired.

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72
Q

Treatment for GSD1a (glucose-6-phosphatase deficiency)?

A
  1. Administration of overnight feeding via gastrostomy or with the administration of uncooked cornstarch (a slowly digested carbohydrate polymer).
  2. Screening for tumors
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73
Q

Complication of GSD1a (glucose-6-phosphatase deficiency)?

A

Hepatocellular carcinoma (HCC) as they age and are screened for tumors

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74
Q

What type of disorder are GSD3, GSD6, and GSD9?

A

Glycogen storage disorders (GSDs)?

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75
Q

Symptoms of GSD3, GSD6, and GSD9?

A
  1. Hepatomegaly

2. Fasting hypoglycemia

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76
Q

How to test for peroxisomal disorders?

A

Newborn screening varies by geographical region

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77
Q

What type of disorder is adrenoleukodystrophy (X-ALD)?

A

X-linked

Peroxisomal disorder

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78
Q

Complications of adrenoleukodystrophy (X-ALD)

A

A minority of boys:
1. A rapidly progressive inflammatory demyelinating condition in childhood that can be arrested with bone marrow transplantation.
The majority of boys:
1. Adrenal insufficiency and myelopathy, presenting as slowly progressive spasticity of the lower extremities

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79
Q

Cause of mitochondrial diseases?

A

Mutations in either mtDNA or in nuclear genes with protein products that are targeted to the mitochondria.

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80
Q

What are the symptoms and prognosis of mitochondrial diseases dependent on?

A 
The heteroplasmy (percentage of affected mitochondria) of the individual with mitochondrial disease. 
Some symptoms are specific to particular mitochondrial diseases, though clinical presentations can vary widely even among family members with the same mutation.
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81
Q

Symptoms of mitochondrial diseases

A
  1. Retinitis pigmentosa
  2. Optic atrophy
  3. Ophthalmoplegia
  4. Ataxia
  5. Dystonia
  6. Developmental regression
  7. Epilepsy
  8. Peripheral neuropathy
  9. Cardiomyopathy
  10. Arrhythmias
  11. Sensorineural hearing loss
  12. Hepatopathy
  13. Skeletal myopathy
  14. Diabetes mellitus
  15. Other symptoms.
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82
Q

Inheritance type for mitochondrial diseases

A
  1. Mitochondrial (matrilineal)
  2. Autosomal dominant
  3. Autosomal recessive
  4. X-linked
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83
Q

What can a delay in diagnosis of inborn errors of metabolism (IEMs) lead to?

A

End-organ damage including progressive neurological injury or death.

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84
Q

Frequent symptoms of inborn errors of metabolism (IEMs)?

A
  1. Sepsis-like presentations
  2. Intellectual disability
  3. Seizures
  4. Sudden infant death
  5. Neurological impairment
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85
Q

How are metabolic disorders classified?

A
  1. Clinical presentation
  2. The age of onset
  3. Tissues or organ systems involved
  4. Defective metabolic pathways
  5. Subcellular localization of the underlying defect.
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86
Q

What has the most bearing on management of children with genetic metabolic disorders?

A
  1. The clinical presentation

2. Long-term prognosis

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87
Q

What do genetic metabolic disorders result from?

A
  1. The deficiency of an enzyme, its cofactors, or biochemical transporters that lead to the deficiency of a required metabolite
  2. The buildup of a toxic compound
  3. A combination of both processes
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88
Q

What happens to infants who survive the neonatal period without developing recognized symptoms of inborn errors of metabolism (IEMs)?

A

Often experience intermittent illness separated by periods of being well.

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89
Q

What symptoms in the newborn should make you consider the hypoglycemic and intoxicating (encephalopathy) metabolic disorders?

A
  1. Lethargy
  2. Poor tone
  3. Poor feeding
  4. Hypothermia
  5. Irritability
  6. Seizures.
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90
Q

How to assess for the hypoglycemic and intoxicating (encephalopathy) metabolic disorders in the newborn presenting with sypmtoms?

A
  1. Plasma ammonia
  2. Blood glucose
  3. Anion gap
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91
Q

What does significant ketosis in the neonate suggest?

A

An organic acid disorder.

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92
Q

What in the newborn would make you consider an organic acid disorder?

A

Significant ketosis

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93
Q

How can an inborn error of metabolism (IEM) be unmasked during infancy or in older children?

A
  1. Introduction of new foods
  2. Metabolic stress associated with fasting or fever
  3. Introduction of fructose or sucrose in the diet may lead to decompensation in hereditary fructose intolerance (introduction to fruits).
  4. Increased protein intake may unmask disorders of ammonia detoxification.
  5. Sleeping through the night (fasting)
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94
Q

Hallmarks of toxic presentation in inborn error of metabolism (IEM)?

A
  1. Encephalopathy
  2. Metabolic acidosis
  3. Hyperammonemia
  4. Vomiting
  5. Lethargy
  6. Other neurological findings
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95
Q

When is diagnostic testing most effective for inborn error of metabolism (IEM)?

A

When metabolites are present in highest concentration in blood and urine at presentation.

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96
Q

What may precipitate the symptom complex for inborn error of metabolism (IEM)??

A
  1. Fever
  2. Infection
  3. Fasting
  4. Other catabolic stresses
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97
Q

Infants with genetic defects in urea synthesis, transient neonatal hyperammonemia, and impaired synthesis of urea and glutamine secondary to genetic disorders of organic acid metabolism can have increased levels of what?

A

Blood ammonia (>1,000 µmol/L) more than 10 times normal in the neonatal period.

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98
Q

Symptoms of severe neonatal hyperammonemia

A
  1. Poor feeding
  2. Hypotonia
  3. Apnea
  4. Hypothermia
  5. Vomiting
  6. Rapidly giving way to coma
  7. Occasionally to intractable seizures
  8. Respiratory alkalosis is common
  9. Death occurs in hours to days if the condition remains untreated.
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99
Q

Symptoms of moderate neonatal hyperammonemia

A
  1. Depression of the central nervous system
  2. Poor feeding
  3. Vomiting.
  4. Respiratory alkalosis may occur.
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100
Q

What levels are associated with moderate neonatal hyperammonemia?

A

200-400 µmol/L

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101
Q

What levels are associated with severe neonatal hyperammonemia?

A

Blood ammonia (>1,000 µmol/L) more than 10 times normal in the neonatal period.

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102
Q

What causes moderate neonatal hyperammonemia?

A
  1. Partial or more distal blocks in urea synthesis
  2. Commonly by disorders of organic acid metabolism (producing a metabolic acidosis) that secondarily interferes with the elimination of nitrogen
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103
Q

What causes clinical hyperammonemia in later infancy and childhood?

A

Infants who are affected by defects in the urea cycle may continue to do well while receiving the low-protein intake of breast milk, developing clinical hyperammonemia when dietary protein is increased or when catabolic stress occurs.

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104
Q

Symptoms of clinical hyperammonemia in later infancy and childhood?

A
  1. Vomiting
  2. Lethargy
  3. May progress to coma.
  4. Older children may have neuropsychiatric or behavioral abnormalities
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105
Q

What levels are associated with clinical hyperammonemia in later infancy and childhood?

A

200-500 µmol/L

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106
Q

What can happen when a hyperammonemia crisis occurs in later infancy and childhood during an epidemic of influenza?

A

May be mistakenly thought to have Reye syndrome

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107
Q

Nervous system symptoms related to inborn errors of metabolism (IEM)?

A
  1. Seizures
  2. Coma
  3. Ataxia
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108
Q

Liver symptoms related to inborn errors of metabolism (IEM)?

A

Hepatocellular damage

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109
Q

Eye symptoms related to inborn errors of metabolism (IEM)?

A
  1. Cataracts

2. Dislocated lenses

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110
Q

Renal symptoms related to inborn errors of metabolism (IEM)?

A
  1. Tubular dysfunction

2. Cysts

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111
Q

Heart symptoms related to inborn errors of metabolism (IEM)?

A
  1. Cardiomyopathy

2. Pericardial effusion

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112
Q

Disorders of inborn errors of metabolism (IEM) whose pathophysiology results in energy deficiency?

A
  1. Disorders of fatty acid oxidation
  2. Mitochondrial function/oxidative phosphorylation
  3. Carbohydrate metabolism
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113
Q

Symptoms of disorders of inborn errors of metabolism (IEM) whose pathophysiology results in energy deficiency?

A
  1. Myopathy
  2. Central nervous system dysfunction
  3. Intellectual disability
  4. Seizures
  5. Cardiomyopathy
  6. Vomiting
  7. Hypoglycemia
  8. Renal tubular acidosis
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114
Q

What is ketotic hypoglycemia?

A

A common condition in which tolerance for fasting is impaired

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115
Q

When does ketotic hypoglycemia first occur?

A

The second year of life and occurs in otherwise healthy children.

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116
Q

What happens in ketotic hypoglycemia when a child encounters catabolic stress?

A

Symptomatic hypoglycemia with seizures or coma occurs

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117
Q

How to treat ketotic hypoglycemia?

A

During periods of stress:

  1. Frequent snacks
  2. The provision of glucose
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118
Q

What is suggestive of a metabolic disorder?

A

A high anion gap metabolic acidosis with or without ketosis

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119
Q

Conditions of inborn errors of metabolism (IEM) that cause congenital malformations

A
  1. Carbohydrate-deficient glycoprotein syndrome
  2. Disorders of cholesterol biosynthesis (e.g., Smith-Lemli-Opitz syndrome)
  3. Disorders of copper transport (e.g., Menkes syndrome, occipital horn syndrome)
  4. Maternal PKU syndrome
  5. Glutaric aciduria II (also called multiple acyl-coenzyme A [CoA] dehydrogenase deficiency)
  6. Aicardi-Goutieres syndrome (mimics congenital infection)
  7. Several storage diseases
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120
Q

What causes storage disorders of inborn errors of metabolism (IEM)

A

Accumulation of incompletely metabolized macromolecules

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121
Q

Examples of storage disorders of inborn errors of metabolism (IEM)

A
  1. Glycogen storage diseases (GSDsII)
  2. Niemann-Pick disease
  3. Mucopolysaccharide disorders
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122
Q

How does a metabolic emergency often present?

A
  1. Vomiting
  2. Acidosis
  3. Hypoglycemia
  4. Ketosis (or lack of appropriate ketosis )
  5. Intercurrent infection
  6. Anorexia/failure to feed
  7. Lethargy proceeding to coma
  8. Seizures
  9. Hyperventilation or hypoventilation
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123
Q

Clinical evaluation of inborn errors of metabolism (IEM)

A
  1. Cardiac,
  2. Renal
  3. Neurological
  4. Developmental assessment
  5. Changes in mental status
  6. Seizures
  7. Abnormal tone
  8. Visual symptoms
  9. Poor developmental progress
  10. Global developmental delay
  11. Loss of developmental milestones (regression),
  12. Cardiomyopathy
  13. Cardiac failure
  14. Cystic renal malformation
  15. Renal tubular dysfunction
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124
Q

What type of mechanism of inheritance is most common for inborn errors of metabolism (IEM)?

A

Autosomal recessive

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125
Q

What is the purpose of the newborn screening?

A

Designed to maximize detection of affected infants but is not diagnostic.

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126
Q

What happens when a newborn tests positive on newborn screening?

A
  1. Must be followed by prompt clinical assessment as recommended by the screening program and/or metabolic specialist.
  2. In many cases children will also be provided therapy until the completion of definitive testing.
  3. Definitive testing must be carried out promptly and accurately.
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127
Q

Test for identifying disorders of amino acid catabolism.?

A

Plasma amino acid profile

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128
Q

Test for identifying disorders of renal tubular function?

A

Urine amino acid profile

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129
Q

Test for identifying disordered fatty acid oxidation?

A
  1. Urine acylglycine profile
  2. Plasma acylcarnitine
  3. Plasma carnitines
  4. Urine organic acid profile
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130
Q

Test for identifying organic acid disorders?

A
  1. Urine acylglycine profile
  2. Plasma acylcarnitine
  3. Plasma carnitines
  4. Urine organic acid profile
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131
Q

Test for identifying carnitine deficiency?

A

Plasma carnitines

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132
Q

Disorders in which CSF is the most helpful specimen?

A
  1. Glycine encephalopathy (CSF amino acid profile when compared to concurrent plasma amino acids)
  2. Disorders of neurotransmitter synthesis (biogenic amine profile)
  3. Glucose transporter (GLUT1) deficiency (plasma-to-CSF glucose ratio)
  4. Serine synthesis defect (amino acid profile)
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133
Q

Categories of glycogen storage disorders (GSDs)?

A
  1. Diseases that predominantly affect the liver and have a direct influence on blood glucose (types I, VI, and VIII)
  2. Diseases that predominantly involve muscles and affect the ability to do anaerobic work (types V and VII)
  3. Diseases that can affect the liver and muscles and directly influence blood glucose and muscle metabolism (type III)
  4. Diseases that affect various tissues but have no direct effect on blood glucose or on the ability to do anaerobic work (types II and IV)
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134
Q

Treatment and goal for glycogen storage disorders (GSDs)

A

Maintaining satisfactory blood glucose levels or supplying alternative energy sources to muscle:

Glucose-6-phosphatase deficiency (type I):

  1. Nocturnal intragastric feedings of glucose during the first 1 or 2 years of life
  2. Snacks and uncooked cornstarch may be satisfactory or nocturnal intragastric feedings.
Pompe disease (type II):
1. Enzyme replacement early in life is effective in , which involves cardiac and skeletal muscle.

No specific treatment exists for the diseases of muscle that impair skeletal muscle ischemic exercise.

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135
Q

What is galactosemia?

A

An autosomal recessive disease caused by deficiency of galactose-1-phosphate uridyltransferase

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136
Q

Clinical manifestations of galactosemia?

Who is most affected?

A

Clinical manifestations are most striking in a neonate who, when fed milk, generally exhibits evidence of
1. Liver failure (hyperbilirubinemia, disorders of coagulation, hypoglycemia)
2. Disordered renal tubular function (acidosis, glycosuria, aminoaciduria)
3. Cataracts
4. Increased risk for severe neonatal Escherichia coli sepsis.
(These major effects are limited to the first few years of life)
Infants may die in the first week of life.
Older Children:
1. Learning disorders despite dietary compliance.
2. Girls usually develop premature ovarian failure despite treatment.

Other symptoms:

  1. Hypoglycemia
  2. Albuminuria
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137
Q

Diagnosis of galactosemia?

A
  1. The diagnosis is made by showing extreme reduction in erythrocyte galactose-1-phosphate uridyltransferase activity.
  2. DNA testing for pathogenic variants in galactose-1-phosphate uridyltransferase confirms the diagnosis and may be useful in predicting prognosis.
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138
Q

Treatment of galactosemia?

A

Treatment by the elimination of dietary galactose results in rapid correction of abnormalities, but infants who are extremely ill before treatment may die before therapy is effective.

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139
Q

What is galactokinase deficiency?

A

An autosomal recessive disorder leading to the accumulation of galactose in body fluids, which results in the formation of galactitol (dulcitol) through the action of aldose reductase

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140
Q

Clinical manifestations of galactokinase deficiency?

A
  1. Cataract formation
    (homozygous develop cataracts after the neonatal period)
    (heterozygous t risk for cataracts as adults)
  2. Increased intracranial pressure rarely
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141
Q

What is hereditary fructose intolerance?

A

Deficiency of fructose-1-phosphate aldolase leading to the intracellular accumulation of fructose 1-phosphate

142
Q

Clinical manifestations of hereditary fructose intolerance

A
  1. Emesis
  2. Hypoglycemia
  3. Severe liver and kidney disease
143
Q

Treatment of hereditary fructose intolerance

A

Elimination of fructose and sucrose from the diet prevents clinical disease.

144
Q

What is fructosuria?

A

Fructokinase deficiency without clinical consequence

145
Q

Symptoms of hyperglycemia?

A
  1. Polyuria
  2. Polydipsia
  3. Polyphagia
  4. Weight loss
  5. Fatigue.
  6. Ketosis or acidosis
  7. Advanced stages of metabolic decompensation if symptoms of hyperglycemia were not recognized.
  8. Risk of cerebral edema in the pediatric population.
146
Q

Criteria for diagnosis of diabetes?

A
  1. A random plasma glucose ≥200 mg/dL with symptoms of diabetes
  2. Hemoglobin A1c ≥ 6.5% with symptoms of diabetes
  3. A fasting (at least 8 hours) plasma glucose ≥126 mg/dL
  4. 2-hour plasma glucose ≥200 mg/dL during an oral glucose tolerance test using a glucose load of 1.75 grams/kg (up to 75 grams).

If random plasma glucose ≥200 mg/dL or fasting plasma glucose ≥126 mg/dL without symptoms, repeat test another day

147
Q

Diabetic ketoacidosis diagnostic definition

A
  1. A glucose ≥200 mg/dL
  2. Venous pH <7.3 or HCO3 <15 mM
  3. Ketonuria or ketonemia.
148
Q

Diabetic ketosis without acidosis diagnostic definition

A
  1. A glucose ≥200 mg/dL
  2. Venous pH ≥7.3 or HCO3 ≥15 mM
  3. The presence of ketones in urine or blood.
149
Q

Hyperglycemic hyperosmolar syndrome (HHS), also known as hyperosmolar hyperglycemic nonketotic (HHNK) syndrome, diagnostic definition

A
  1. A glucose >600 mg/dL
  2. Serum osmolality >330 mOsm,
  3. Venous pH >7.3
  4. HCO3 >15 mM
  5. Absent to small ketonuria or ketonemia.

It is often accompanied by hypernatremia, significant dehydration, and altered mental status.

150
Q

Mixed hyperglycemic hyperosmolar state and ketoacidosis diagnostic definition

A
  1. Glucose >600 mg/dL
  2. Serum osmolality >320 mOsm
  3. Venous pH <7.3
  4. HCO3 <15 mM
  5. Mmoderate or large ketonuria or ketonemia

Often with hypernatremia, significant dehydration, and altered mental status,

151
Q

Initial laboratory evaluation of newly diagnosed diabetes

A
  1. Blood gas
  2. Basic metabolic panel (to evaluate electrolytes, CO2, BUN, and creatinine)
  3. Phosphorus
  4. Magnesium
  5. Insulin
  6. C-peptide
  7. Hemoglobin A1c
  8. GAD-65 antibodies
  9. Islet cell antibodies
  10. insulin autoantibodies
  11. Urine
  12. EKG for significant electrolyte deficiencies
  13. Head CT/retinal exam for altered mental status
152
Q

Treatment for DKA - fluids

A
  1. A bolus of 10 to 20 mL/kg of normal saline (NS) over a 1-hour period is typically used in a mildly to moderately dehydrated patient (DEGREE OF DEHYDRATION IS USUALLY UNDERESTIMATED)
  2. Repeat bolus aggressively or conservatively dependent on patient history (hypovolemic shock or congestive heart failure )
  3. Fluid deficit should be replaced evenly over a minimum of 48 hours, in addition to maintenance fluids.
  4. Ongoing losses may also need to be replaced if excessive (urine output >4 mL/kg/hr, vomiting, and Kussmaul respirations)
  5. Fluid management must be reassessed at a minimum of every 4 hours.
  6. Inadequate hydration will contribute to persistent acidosis. Prolonged administration of hypertonic fluids can result in hyperchloremic metabolic acidosis.
  7. Slower fluid replacement should be considered in a patient who is very young, has had a prolonged prodrome, has severe acidosis, has an elevated corrected sodium, or has significantly elevated serum osmolality (>300 mOsm).
  8. NPO during the initial stabilization due to potential risk of decompensation.
  9. NS should be used for replacement fluids and maintenance fluids when in DKA; transitioning to ½ NS once the acidosis resolves.
  10. Sodium content of the fluid may need to be adjusted, depending on the patient’s age, serum osmolality, and serum electrolytes.
  11. If serum osmolality is <300 mOsm, aim to replace the deficit over a 48-hour period. If serum osmolality is ≥300 mOsm or dehydration is >10%, aim to replace the deficit over a 48-hour period or longer.
  12. The volume of initial resuscitation fluid should be subtracted from the total deficit when calculating the volume that should be replaced over the following 48 hours.
  13. NS 50ml/kg for 5% dehydration
    NS 100ml/kg for 10% dehydration
153
Q

Treatment for DKA - potassium

A
  1. Potassium is depleted in DKA and should be added if serum potassium is <6.0 mEq/L, the patient has voided, and the ECG demonstrates an absence of peaked T waves.
  2. Adding potassium helps avoid the development of life-threatening arrhythmias that can occur if hypokalemia develops with correction of the acidosis as potassium will be driven back into cells as the acidosis resolves
  3. Potassium can be added to fluids in the form of potassium phosphate and potassium chloride.
154
Q

Treatment for DKA - phosphorus

A
  1. Total body phosphorus is depleted in DKA.
  2. Symptomatic hypophosphatemia is extremely rare
  3. Intravenous replacement of phosphorus is controversial.
  4. Phosphate supplementation may be considered if there has been a prolonged period of illness or if an extended period of fasting is anticipated.
  5. Potassium phosphate can be used along with potassium chloride in this instance to provide both potassium and phosphorus intravenously.
  6. Calcium levels must be monitored carefully as hypocalcemia and arrhythmia can develop.
  7. If hypocalcemia develops, the phosphate infusion should be discontinued immediately.
155
Q

Treatment for DKA - bicarbonate

A
  1. DKA is the result of increased ketogenesis due to insulin deficiency and should reverse with insulin therapy.
  2. Bicarbonate is not recommended in the management of DKA
  3. Sudden correction of blood pH can paradoxically lower cerebrospinal fluid pH.
  4. Bicarbonate has been shown to be an independent risk factor for cerebral edema.
  5. Bicarbonate production will occur as ketones are metabolized once insulin is administered altering calculations
  6. Bicarbonate also affects potassium potentially altering potassium administration
156
Q

Treatment for DKA - Insulin

A
  1. Any patient with fasting hyperglycemia, ketosis, and metabolic abnormalities requires insulin therapy to reverse these derangements.
  2. insulin infusion should be initiated within the first 2 hours of treatment of DKA.
  3. The initial insulin infusion rate should be 0.1 units/kg/hour.
  4. Mix insulin with NS at a concentration of 0.1 units/mL (50 units of regular insulin in 500 mL of 0.9% NS).
  5. The insulin infusion rate should be maintained until the ketosis has markedly improved or resolved.
  6. Since insulin will lower blood sugar before resolution of the ketosis and acidosis, dextrose will need to be added to the intravenous fluids at some point to avoid a rapid decline in serum glucose or frank hypoglycemia, or both.
  7. Generally, dextrose is added to the fluids when serum glucose levels fall below 300 mg/dL, but in certain circumstances dextrose may need to be added earlier (see below).
  8. After initial fluid management and initiation of insulin therapy, the goal should be to decrease blood glucose by 50 to 100 mg/dL/hr.
  9. The goal is to maintain the corrected serum sodium and to see an increase in the measured serum sodium as the blood glucose level falls.
  10. If marked hyperosmolality is present (glucose >1200 mg/dL, serum osmolality >300 mOsm), the therapeutic goals should be adjusted to replace the fluid deficit over a period of 48 to 72 hours, and after an initial period of rehydration, to lower the blood glucose by 50 mg/dL/hr
157
Q

Treatment DKA when to monitor blood pH and electrolytes

A
  1. Monitor blood pH and electrolytes every 1 to 2 hours until the patient is improving (pH >7.3 or bicarbonate >15 mM) and then every 2 to 4 hours.
158
Q

Treatment DKA when to monitor glucose levels

A

Every hour

159
Q

Treatment DKA when to monitor neurological status

A

Every 1-2 hours

160
Q

Treatment DKA what to monitor

A
  1. Blood pH
  2. Electrolytes
  3. Glucose levels
  4. Neurological status
  5. Urine output (I’s & O’s)
161
Q

Treatment DKA complications

A
  1. Hypoglycemia
  2. Hypokalemia
  3. Hypophosphatemia
  4. Hypocalcemia
  5. Hypernatremia
  6. Fluid overload with edema
  7. Acute respiratory distress syndrome
  8. Symptomatic cerebral edema.
162
Q

What is the leading cause of death with DKA?

A

Cerebral edema

163
Q

Patients with high risk of cerebral edema?

A
  1. Younger than 5 years of age
  2. Severe acidosis
  3. Severe dehydration
  4. High serum osmolarity.
164
Q

Symptoms of cerebral edema

A
  1. Any change in sensorium
  2. Headache
  3. Increased drowsiness
  4. Deepening coma
  5. Cranial nerve abnormalities.
  6. Cushing’s triad (increased blood pressure, decreased heart rate, irregular respirations)
165
Q

Treatment for cerebral edema

A
  1. Mannitol (0.25–0.5g/kg over 20 minutes) in patients with signs of cerebral edema and impending respiratory failure. If there is no initial response, it should be repeated in 2 hours.
  2. Hypertonic saline (3%) (5 mL/kg over 30 minutes), may be a reasonable alternative to mannitol if there is concern for hypotension (and cerebral hypoperfusion) due to an osmotic diuresis that could be seen with mannitol administration.
166
Q

When to switch to subcutaneous insulin?

A
  1. Able to tolerate oral intake
  2. A normal mental status
  3. Resolved acidosis (bicarbonate ≥15 mM or pH ≥7.3).
167
Q

How to switch to subcutaneous insulin?

A
  1. The first dose of subcutaneous insulin should be given 15 to 60 minutes (15–30 minutes with rapid acting, 30–60 minutes with regular insulin) before stopping the intravenous infusion to allow sufficient time for absorption.
  2. A typical starting daily dose of insulin for a patient with type 1 diabetes is between 0.4 and 1 units/kg/day,
  3. Patients with previously diagnosed diabetes can usually be started on their home insulin regimen.
  4. For patients in DKA, it is convenient, when possible, to give long-acting basal insulin while still on infusions in order to help with the transition to subcutaneous insulin.
168
Q

Treatment of hyperglycemic hyperosmolar syndrome (HHS), also known as hyperosmolar hyperglycemic nonketotic (HHNK) syndrome

A
  1. May be seen in type 1 diabetes although more common in type 2 diabetes.
  2. Requires that adequate fluid administration precede insulin administration to avoid cardiovascular collapse in the ICU setting
169
Q

Treatment of diabetic ketosis without acidosis

A
  1. Oral rehydration and subcutaneous insulin therapy (not appropriate in patients with hyperosmolality, nausea or vomiting, or another issue precluding oral intake.)
170
Q

Admission criteria hyperglycemia

A
  1. Hyperglycemia accompanied by ketosis and acidosis
  2. Altered mental status
  3. Any patient receiving insulin who is unable to tolerate sufficient oral intake to prevent hypoglycemia and dehydration
  4. Pediatric patients with newly diagnosed diabetes requiring initiation of insulin therapy if intensive education is not immediately available on an outpatient basis
171
Q

Discharge criteria hyperglycemia

A
  1. Normal electrolytes and hydration status
  2. Ability to tolerate oral intake It is not necessary to obtain perfect glucose control before discharge; insulin doses will require adjustments after discharge and on an ongoing basis
  3. For a patient being discharged on insulin therapy, it is necessary to ensure that the family has been educated regarding the following:
  4. Definition and pathophysiology of the different types of diabetes
  5. Insulin action
  6. Signs and symptoms of hypoglycemia
  7. Treatment of hypoglycemia and use of glucagon Proper technique in using the glucometer
  8. Proper technique in drawing up and administering insulin
  9. Consequences of poor glycemic control
  10. Follow-up should be arranged with a pediatric endocrinologist as an outpatient
172
Q

Comorbidities for diabetes

A
  1. Type 1 diabetes are at increased risk for other autoimmune disorders such as hypothyroidism and celiac disease.
  2. Type 2 diabetes are at increased risk for non-alcoholic steatohepatitis and dyslipidemia.
173
Q
  1. How does estrogen affect thyroid function?

2. Why is this important?

A
  1. Decreases TBG clearance leading to higher levels of total thyroid hormone.
  2. Oral contraceptive pill use or pregnancy will lead to elevated total T4 levels, but the free amount of thyroid hormone remains normal.
174
Q

What happen to thyroid levels at birth?

A
  1. An acute surge in TSH occurs in response to exposure to the cold extrauterine environment, resulting in a rise in T4 and T3 levels.
  2. TSH remains elevated for 3 to 5 days after birth while the T4 and T3 levels gradually decline over the first 2 to 4 weeks of life.
175
Q

What happens to thyroid levels during childhood?

A

There is a progressive decrease in TSH and thyroid hormone levels until approximately age 15 to 16 years, when adult levels are reached

176
Q

What does congenital hypothyroidism cause?

A
  1. One of the leading causes of preventable intellectual disability.
177
Q

Symptoms of congenital hypothyroidism?

A 
Clinical manifestations are often subtle and usually not present at birth due to placental transfer of maternal thyroid hormone protects the developing fetus
1. Lethargy
2. Difficulty feeding
3. Constipation
4. A hoarse cry
5. Prolonged jaundice
6. A wide posterior fontanel
7. Macroglossia
8. Coarse facies
9. Umbilical hernia
10. Hypotonia. 
Due to newborn screening, infants are usually identified before they develop clinical signs or symptoms of hypothyroidism.
178
Q

What is the most common cause of acquired hypothyroidism in children?

A

Hashimoto thyroiditis or autoimmune hypothyroidism

179
Q

Presentation of acquired hypothyroidism in children?

A
  1. Neck swelling
  2. Fatigue
  3. Constipation
  4. Cold intolerance
  5. Menstrual irregularities in pubertal girls
  6. Goiter (symmetric and nontender) 70% to 80%
  7. Bradycardia
  8. Proximal muscle weakness
  9. Delayed deep tendon reflexes
  10. Growth failure
  11. Poor linear growth with preservation of normal weight gain (may be relatively overweight for their height)
  12. Female predominance
  13. Positive family history of autoimmune thyroid disease. (40%-50%)
  14. Associated with other autoimmune disorders
  15. More common in certain chromosomal disorders such as Down and Turner
180
Q

What is neonatal hyperthyroidism?

A

Rare disorder caused by transplacental passage of TSH receptor-stimulating antibodies from a mother with Graves disease, leading to increased thyroid hormone production in the fetus.

181
Q

How long does neonatal hyperthyroidism last?

A

Until the maternal antibodies are cleared from the infant’s circulation, which can take up to 3 to 4 months.

182
Q

Symptoms of neonatal hyperthyroidism?

A

Clinical symptoms in the neonate are variable and may not occur until several days after birth due to antithyroid medications taken by the mother during pregnancy. Neonates may present with
1. Irritability
2. Tachycardia
3. Jaundice
4. Poor weight gain
5. Exophthalmos
Affected infants need to be admitted to NICU for close monitoring of vital signs and frequent testing of thyroid labs resulting in:
1. High-output cardiac failure
2. Death.
A pediatric endocrinologist should be consulted immediately
Untreated infants that survive may develop
1. Advanced bone age
2. Craniosynostosis
3. Intellectual disability.

183
Q

What is the most common cause of hyperthyroidism in children?

A

Graves disease (autoimmune hyperthyroidism)

184
Q

Who is most likely to have Graves disease?

A

Female predominance peaking in adolescence

185
Q

What is the pathophysiology of Graves disease?

A

An autoimmune disorder in which antibodies against the TSH receptor (also known as thyroid-stimulating immunoglobulins) cause the overproduction and secretion of thyroid hormone.

186
Q

Symptoms of Graves disease

A 
Often insidious and the rarity of the disorder and its nonspecific symptoms often result in a delay in diagnosis. 1. Fatigue
2. Weight loss
3. Palpitations
4. Increased bowel movements
5. Irritability
6. Difficulty sleeping. 
7. Deteriorating school performance 
8. Decreased concentration.
9. Thyroid is generally diffusely enlarged
10. Tachycardia
11. Hypertension
12. Hyperreflexia
13. A fine tremor. 
Ophthalmopathy (thyroid eye disease) is less common than in adults.
187
Q

Medical emergency of Graves disease

A

Thyroid storm - acute hyperthermia, tachycardia, and encephalopathy in a patient with hyperthyroidism. Heart failure can result from the tachycardia.
Thyroid storm may be precipitated by infection, surgery, or noncompliance with antithyroid medications.

188
Q

What is primary congenital hypothyroidism?

A

An inherent defect of the thyroid gland or thyroid hormone production or secretion

Primarily caused by caused by thyroid gland dysgenesis.

189
Q

What is secondary (central) congenital hypothyroidism?

A

Due to defects in the pituitary/hypothalamus.

190
Q

What is transient congenital hypothyroidism?

A

Rare
1. Can be caused antithyroid medications taken by the mother during pregnancy that cross the placenta, inhibiting fetal thyroid hormone production.
Usually resolves in 1-2 weeks
2. Iodine deficiency or excess in the mother
3. Pre- or postnatal exposure to iodine
4. Maternal TSH receptor-blocking antibodies that cross the placenta and block thyroid hormone production in the fetus/neonate.

191
Q

Causes of acquired hypothyroidism

A
  1. Radiation to the neck (used in the treatment of certain types of lymphoma)
  2. Surgical resection of the thyroid gland for treatment of Graves disease or thyroid cancer.
  3. Certain medications
192
Q

Medications that induce acquired hypothyroidism

A
  1. Dopamine
    (Down-regulate the release of TSH from the pituitary)
  2. Glucocorticoids
    (Down-regulate the release of TSH from the pituitary) (Appear to inhibit the peripheral conversion of T4 to T3)
  3. Amiodarone
    (Affect thyroid hormone synthesis and release)
    (Contains iodine)
  4. Iodine
    (Affect thyroid hormone synthesis and release)
    (Large amounts can block the release of preformed thyroid hormone and the synthesis of new hormone (the Wolff–Chaikoff effect)
    (Large amounts of cutaneous iodine for surgical procedures risk factor)
  5. Lithium
    (Affect thyroid hormone synthesis and release)
    (Inhibits thyroid hormone release)
  6. Antiepileptic medications (phenytoin and carbamazepine)
    (Increase hepatic metabolism of thyroxine resulting in low levels of total T4 with normal TSH and T3 levels).
193
Q

What history should be suspicious for central hypothyroidism?

A
  1. Hydrocephalus
  2. Hemorrhage
  3. Brain tumor
  4. Meningitis
  5. Central nervous system malformations.
194
Q

Congenital hypothyroidism diagnosis?

A

Newborn screening
(measurement of T4 or TSH (or both)
Screening with TSH has a higher false-positive rate owing to the early screening (before 2 days of life) and it also misses infants with central hypothyroidism.
Screening T4 can miss subclinical hypothyroidism (normal T4 but elevated TSH levels).
If newborn screen positive:
Thyroid function testing should include TSH and free T4 or total T4 combined with a measure of binding proteins, such as a T3 resin uptake.
A technetium scan can establish whether there is any thyroid tissue or an ectopic or hypoplastic thyroid.

195
Q

Acquired hypothyroidism diagnosis

A
  1. A serum TSH with a total and free T4.
  2. Antithyroid peroxidase and antithyroglobulin antibodies for autoimmune hypothyroidism.
  3. Imaging only with nodule present
  4. MRI of the brain and pituitary to rule out a mass if acquired central hypothyroidism.
196
Q

Hyperthyroidism diagnosis

A
  1. Low TSH and elevated T4 and T3 levels are consistent with primary hyperthyroidism.
  2. Measurements of thyroid-stimulating immunoglobulins and TSH receptor antibodies should be obtained to confirm the diagnosis of Graves disease.
  3. An I-123 scan may be necessary to distinguish Hashimoto thyroiditis from Graves, given overlap in the antibody profiles.
  4. Thyroid US with presence of nodule
197
Q

Treatment congenital hypothyroidism

A

Goal: adequately replace thyroid hormone as early as possible to maximize the chances for normal neurologic development.
Levothyroxine (T4)
1. Starting dose is generally 10 to 15 μg/kg (usually 37.5–50 μg/day) in one daily dose (Higher dose has had better neurologic outcomes)
2. Crushed tablet in a small amount of formula, breast milk, or water.
3. Avoid liquid and suspensions because they are unreliable
4. Overtreatment leads to advanced bone age and craniosynostosis
5. Late diagnosis at about 2-3 months of age - work up to a full replacement dose over 1 to 2 weeks to avoid precipitating rapid mobilization of fluid.

Clinical and biochemical monitoring at 2 to 4 weeks following levothyroxine initiation
Every 1 to 2 months during the first 6 months of life
Every 3 to 4 months between 6 months and 3 years old
Then every 6 to 12 months until completion of growth.

198
Q

Treatment congenital hypothyroidism

A
  1. Levothyroxine dosed based on age and weight
  2. Iron, calcium supplements, and soy products decrease the absorption of levothyroxine and should be administered at a different time.
  3. Higher dose if given with meals
  4. The goal of treatment is to keep the TSH and T4 within the normal range.
  5. Elevated TSH and T4 levels in a patient treated for primary hypothyroidism should raise the suspicion for noncompliance with a recent effort to conceal their noncompliance by taking multiple doses at one time.
  6. T4 is monitored in patients with central hypothyroidism.
199
Q

Treatment neonatal hyperthyroidism

A
  1. Treatment for neonatal thyrotoxicosis should be initiated ASAP due to risk of cardiac failure and death,
  2. Methimazole and propylthiouracil (PTU) block the production of thyroid hormone.
  3. Methimazole (0.5–1 mg/kg/day) is now the first-line agent for treatment of neonatal hyperthyroidism
  4. PTU (5 to 10 mg/kg/day) also blocks conversion of T4 to T3 and is available in a liquid preparation. *Risk for severe liver failure
  5. PTU may need to be used if a compounded suspension of methimazole cannot be obtained.
  6. Propranolol (1–2 mg/kg/day) should be administered to treat tachycardia.
  7. In severe cases, a saturated potassium iodide solution (SSKI 1 drop/day) or Lugol iodide solution (1–3 drops/day) may be used to decrease thyroid hormone production.
  8. Frequent monitoring of thyroid levels is essential.
  9. Medications and propranolol can be weaned and are typically discontinued after 3 to 4 months once the TSI is no longer detectable.
200
Q

Treatment Graves disease

A

1 Methimazole (0.5 to 1 mg/kg/day or 15–20 mg/day).
(Severe side effects include agranulocytosis, hepatitis, and Stevens–Johnson syndrome)
2. Use of propylthiouracil (PTU) (5 to 10 mg/kg/day) is now generally avoided due to the association with liver failure.
3. May take a number of weeks until circulating thyroid hormone levels begin to decrease.
4. A beta-blocker such as propranolol (1–2 mg/kg/day) or atenolol (0.5–1.2 mg/kg/day) may be added to control tachycardia and improve symptoms while the antithyroid medications take effect.
5. Thyroid levels, including TSH, T4, and T3, should be checked 4 to 6 weeks after starting therapy, then every 2 to 3 months once on a stable dose.
6. Definitive therapy if remission is not achieved within 12 to 24 months or sooner if methimazole cannot be tolerated.
7. Definitive therapy is radioiodine ablation or surgical removal of the thyroid gland.
8. Radioiodine ablation is a safe and effective treatment in children, with long-term studies showing no evidence of decreased fertility or increase rates of malignancy.
9. Thyroidectomy is generally recommended for younger children (< 10 years), those with large glands, or those with severe eye disease.

201
Q

Treatment for thyroid storm

A
  1. Propranolol (2 to 3 mg/kg per day, divided every 6 hours) to control the tachycardia
  2. Dexamethasone (1 to 2 mg every 6 hours) to reduce conversion of T4 to T3
  3. Intravenous sodium iodide (125 to 250 mg/day) or Lugol solution (concentrated iodide; 5 drops by mouth every 8 hours) to decrease the release of thyroid hormone from the thyroid gland.
  4. Methimazole (0.6 to 0.7 mg/kg per day) or PTU (6 to 10 mg/kg per day; maximum 200 to 300 mg/day) should be started, although the effect will not be seen for several days.
202
Q

Admission criteria for thyroid issues

A
  1. Neonatal thyrotoxicosis
  2. Thyroid storm
  3. Congenital hypothyroidism or severe hypothyroidism in an older child if there is any suspicion that the family is not administering the medication properly
203
Q

Discharge criteria for thyroid issues

A
  1. Resolution of acute symptoms of neonatal thyrotoxicosis or thyroid storm and improving thyroid function tests on medication.
  2. For any child with thyroid disease, the family must understand proper dosing and administration of medication, and thyroid function tests should be improving.
204
Q

What does the thyroid hormone do?

A
  1. Growth and development
  2. Thermogenesis
  3. Oxygen consumption
  4. The metabolism of carbohydrates, lipids, and proteins.
205
Q

What is thyrotropin-releasing hormone (TRH)?

A

Produced in the hypothalamus and stimulates the production and secretion of thyroid-stimulating hormone (TSH) by the anterior pituitary gland.

206
Q

How does thyroid-stimulating hormone (TSH) work?

A

Through binding of the thyroid-stimulating hormone receptor (TSHR), TSH leads to production and release of the thyroid hormones, thyroxine (T4) and triiodothyroxine (T3), as well as thyroid cell growth.

207
Q

What does the pituitary gland do?

A

Regulates endocrine target organs, such as the adrenal gland, ovary, testis, and thyroid gland.

208
Q

What is secondary pituitary disorder?

A

Abnormalities in end-organ hormone release caused by pituitary dysfunction

209
Q

What is tertiary pituitary disorder?

A

Abnormalities caused by a hypothalamic abnormality

210
Q

Common presentations of hypothalamic-pituitary disease in the pediatric population?

A

Failure of growth and failure of sexual maturation

211
Q

What does the hypothalamus produce?

A

Secretes releasing factors that travel via the portal circulation to the anterior pituitary gland and include growth-hormone releasing hormone (GHRH), thyrotropin-releasing hormone (TRH), corticotropin-releasing hormone (CRH), and gonadotropin releasing hormone (GnRH).

212
Q

What do the factors from the hypothalamus produce?

A

These factors stimulate or inhibit release of the six peptide hormones produced by the five distinct cell types of the anterior pituitary gland: growth hormone (GH) from somatotropes, prolactin by lactotropes, thyroid-stimulating hormone (TSH) from the thyrotropes, adrenocorticotropic hormone (ACTH) via corticotropes, and follicle-stimulating hormone (FSH) and luteinizing hormone (LH), secreted by gonadotropes.

213
Q

What does the posterior pituitary gland do?

A

Releases arginine vasopressin, also known as antidiuretic hormone (ADH), and oxytocin.

214
Q

Where do the neurons that release vasopressin originate and why is this important?

A

In the paraventricular and supraoptic nuclei of the hypothalamus.
For this reason, diabetes insipidus (DI) can occur with hypothalamic disease, but may not always occur with pituitary disease, even if the stalk has been transected (depending on the level of transection).

215
Q

Genetic causes of pituitary hormone deficiency clinical presentations?

A
  1. Congenital malformations involving the midline of the central nervous system (CNS) are associated with pituitary deficiencies.
  2. Midline defects elsewhere may alert clinicians to screen for pituitary deficiency (i.e. single central incisor, cleft lip and palate, tracheo-esophageal fistula, omphalocele and gastroschisis, and extrophy of the bladder).
  3. Septo-optic-dysplasia, with optic nerve hypoplasia
  4. Holoprosencephaly and absence of the septum pellucidum.
216
Q

MRI findings of Genetic causes of pituitary hormone deficiency

A
  1. A small or absent anterior pituitary gland
  2. An absent or ectopic posterior pituitary “bright spot”
  3. A transected pituitary stalk.
217
Q

Newborn findings in Genetic causes of pituitary hormone deficiency

A
  1. Hypoglycemia (due to GH and/or ACTH deficiency)
  2. Micropenis (combination of GH and gonadotropin deficiency)
  3. Hyperbilirubinemia
218
Q

Clinical signs directly related to pituitary deficiency in children from acquired causes

A
  1. Poor linear growth (GH deficiency)
  2. Fatigue and malaise (TSH and ACTH deficiency)
  3. Delayed pubertal development
  4. Amenorrhea or sexual dysfunction (LH and FSH deficiency)
  5. Hypotension or hypoglycemia (ACTH deficiency).
  6. Inability to regulate temperature, appetite, thirst, and vital signs may be seen in hypothalamic dysfunction.
  7. Indirect signs of central nervous system lesions, including headaches, vision changes, and other neurological disturbances, may be seen.
219
Q

Clinical presentation of pituitary deficiency from tumors

A

(Craniopharyngioma and less commonly, germinoma and astrocytoma)
1. Growth failure
2. DI
3. Visual complaints
(Hypothalamic hamartomas and pineal tumors)
4. Precocious pubertal development during childhood.

220
Q

How to test for TSH deficiency?

A

Observing low thyroid hormone (T4) with low or inappropriately normal TSH levels (distinguished from primary hypothyroidism in which TSH is elevated).

221
Q

When is the establishment of the diurnal and pulsatile secretion pattern of GH?

A

2 to 4 weeks of life

222
Q

What levels of GH are unequivocally sufficient?

A

Levels greater than 20 ng/mL

223
Q

What must be done if the diagnosis for GH is not clear?

A

stimulation tests must be performed. Commonly used secretagogues include arginine, clonidine, and glucagon; insulin-induced hypoglycemia was considered a gold standard but is rarely used due to safety concerns.

224
Q

What levels of Stimulated growth hormone peaks are normal?

A

> 10 ng/mL

225
Q

How to diagnosis gonadotropin deficiency?

A

Made in the first 6 months for males and before 2 to 3 years of life for females, when the gonadotropin axis is active by measuring random LH and FSH. Otherwise diagnosis is generally left until pubertal age.

226
Q

How to diagnosis secondary or tertiary adrenal insufficiency?

A

By observing ACTH and cortisol rise after administration of CRH (1 ug/kg intravenously). Samples for ACTH and cortisol are drawn at baseline and 30, 45, 60, and 120 min after CRH.

  • Normal: Basal ACTH increases 2- to 4-fold after CRH; peak cortisol >19 μg/dL
  • Secondary adrenal insufficiency: Basal ACTH <10 pg/mL, no response to CRH; peak cortisol <19 μg/dL
  • Tertiary adrenal insufficiency: Basal ACTH <10 pg/mL, response to CRH (60-min >10 pg/mL, 120-min >20 pg/mL
227
Q

How to diagnose secondary adrenal insufficiency?

A

By observing ACTH and cortisol rise after administration of CRH (1 ug/kg intravenously).
A low dose of ACTH (1 μg) with cortisol levels at 0, 30, and 60 minutes
Peak cortisol levels of <19 μg/dL are consistent with adrenal insufficiency.

228
Q

Treatment of anterior pituitary deficiency

A

Consists of replacement of the pituitary or target gland hormone.

229
Q

Treatment for GH deficiency

A

Subcutaneous growth hormone

230
Q

Treatment for for gonadotropin deficiency?

A

Testosterone or estrogen (usually during puberty, though testosterone may be given in neonates to correct micropenis)

231
Q

Treatment for secondary adrenal insufficiency?

A

Maintenance doses of hydrocortisone may be used, though some have sufficient function to not require daily steroid supplementation

232
Q

How should cortisol replacement be done and why?

A

Should be undertaken prior to thyroid hormone replacement, as this may precipitate adrenal crisis

  1. All patients with adrenal insufficiency must be treated during times of stress with high doses of glucocorticoid.
  2. Oral hydrocortisone 25 to 50 mg/m2 every 8 hours given for mild to moderate stress such as fever, emesis, infection, or a minor procedure.
  3. Intravenous or intramuscular hydrocortisone 100 mg/m2 given once for severe stress including shock or major surgery; 100 mg/m2 should then be given intravenously over 24 hours divided q4 hours.
  4. The stress dose should be continued until the patient is recovered from inciting illness, and daily dosage immediately resumed.
233
Q

What is diabetes incipidus (DI)?

A

An inability to concentrate urine despite increasing serum osmolality as a result of inadequate secretion of ADH (central DI) or unresponsiveness of the kidney to ADH (nephrogenic DI).

234
Q

What are the symptoms of DI?

A
  1. Excessive drinking (polydipsia)
  2. Excessive urine output (polyuria)
  3. Dehydration
  4. Hypernatremia
235
Q

Testing for DI?

A

Water deprivation test to confirm that urinary osmolality remains inappropriately low during a period when serum osmolality has increased to an abnormally high level.

  1. Test is usually begun in the morning after free access to fluids overnight.
  2. Patient is NPO with no access to enteral or parenteral fluids.
  3. Monitor vital signs hourly.
  4. Monitor weight hourly.
  5. Monitor urine output hourly.
  6. Monitor serum and urine osmolality and serum sodium every 2 hours.
236
Q

When to stop testing for DI?

A
  1. Body weight decreases by 3% from baseline.
  2. Significant orthostatic blood pressure and/or pulse changes are observed.
  3. Urine osmolality >600 mOsm/kg, suggesting normal ADH secretion and response.
  4. Urine osmolality reaches a plateau (i.e. less than 10% change over three consecutive measurements).
  5. Serum osmolality > 300 mOsm/kg H2O and/or the serum sodium is >145 mmol/L.
237
Q

Diagnostic results for DI?

A

With DI, urine osmolality will not rise above 600 mOsm/kg despite high serum osmolality or hypernatremia.
Plasma ADH level should be sent at the end of the test to help distinguish central DI (low/absent ADH) from nephrogenic DI (normal levels).
Once ADH level is sent, administer desmopressin (1 mg) subcutaneously and continue following urine osmolality and volume for an additional 2 hours.
After 2 hours of administering DDAVP, a rise in urine osmolality over (often 50% above baseline) confers a diagnosis of central diabetes insipidus, whereas a rise of less than 10% above baseline confers a diagnosis of nephrogenic diabetes insipidus.

238
Q

Fluid management for DI?

A

Method 1: Give maintenance intravenous fluids as normal saline (NS) or ½NS. Replace urine output in excess of 4 mL/kg/hr with D5W or D5/¼NS, depending on the serum sodium level.
Method 2: Give intravenous fluids for insensible loss of 400 to 600 mL/m2/day as NS or ½NS. Replace all urine output with D5W or D5/¼NS, depending on the serum sodium level.
(Serum glucose needs to be monitored closely with both methods because patients may become hyperglycemic, which can worsen the polyuria. For glucose levels higher than 250 mg/dL, an insulin drip may be required (starting dose, 0.03 U/kg/hr).

239
Q

Treatment for DI?

A

Treatment with ADH can be initiated if serum sodium is greater than 145 mEq/L and serum osmolality is greater than 195 mOsm. The dose should be titrated according to the patient’s response to the initial dose. The most flexible regimen is an aqueous pitressin drip. Its extremely short half-life enables rapid changes in dose.

240
Q

Aqueous pitressin as an intravenous drip

A
  1. Aqueous pitressin is manufactured as 20 U = 1 mL.
  2. Add 0.1 mL to 20 mL NS, and then add 5 mL of that solution to 500 mL NS so that 1 mL = 1 mU aqueous pitressin.
  3. The usual starting dose is 0.10 mU/kg/hr. The dose can be adjusted every 30 minutes until the desired trend in serum sodium is noted. Doses higher than 0.8 mU/kg/hr are not likely to increase the antidiuretic effect.
241
Q

Subcutaneous aqueous pitressin (20 U/mL)

A

Half-life of 3 to 6 hours.
The suggested starting dose is 0.05 to 0.1 U/kg per dose subcutaneously (SC)
Examples:
- 1 U SC every 4 to 6 hours for infants
- 2.5 U SC every 4 to 6 hours for toddlers
- 5 U SC every 4 to 6 hours for children
- Maximum of 10 U SC every 4 to 6 hours for adults.

242
Q

Parenteral desmopressin acetate (DDAVP) (0.1 mL = 0.4 μg)

A

Half-life of 6 to 12 hours (or longer).
The suggested starting dose is 0.01 to 0.03 μg/kg per dose intravenously (IV) or SC daily or twice daily Examples:
- 0.05 mL SC or IV every 12 hours for infants
- 0.1 mL SC or IV every 12 hours for toddlers
- 0.15 mL SC or IV every 12 hours for children
- Up to 0.5 mL SC or IV every 12 hours for adults

243
Q

Nasal DDAVP (0.1 mL = 10 μg)

A

Half-life of 6 to 24 hours.

  1. Nasal dose of 5 to 20 μg/day (0.05 to 0.2 mL) divided twice daily or daily as needed
  2. 1 spray = 10 μg or 0.1 mL = 10 μg
  3. The nasal dose is 10 times the parenteral dose in micrograms
244
Q

Oral DDAVP (0.1- and 0.2-mg tablets)

A

Dose of 0.025 to 0.4 mg orally every 8 to 24 hours

245
Q

What to avoid in DI and why?

A

Avoid hyponatremia, which can exacerbate posttraumatic cerebral edema.

246
Q

What is syndrome of inappropriate antidiuretic hormone secretion (SIADH)?

A
  1. Uncommon cause of hyponatremia in the inpatient setting.
  2. Hyponatremia with decreased urine output develops
  3. The patient needs to be euvolemic or hypervolemic for the secretion of ADH to be considered “inappropriate.”
247
Q

What predisposes someone to SIADH?

A

The presence of CNS disease or pulmonary disease

248
Q

Diagnosis of SIADH

A

Decreased urine output and low serum sodium.
Typically, in isolated SIADH, the serum sodium and osmolality are low, the urine sodium is above 40 meq/L, and the urine osmolality is above 100 mOsm/kg.
Findings should include the absence of edema or dehydration on physical examination, and there should be evidence of intravascular volume expansion (low blood urea nitrogen, low hematocrit, low uric acid) on laboratory evaluation.

249
Q

Treatment of SIADH

A
  1. Restriction of fluid to 400 to 600 mL/m2/day (40% of maintenance) or less (not <25% of daily maintenance)
  2. Strict input and output; monitor urine specific gravity
  3. Frequent measurement of serum sodium levels
  4. If acute life-threatening symptoms are present or if the development of hyponatremia is acute and the sodium level is less than 120 mEq/L with symptoms of neurologic deterioration or brain swelling:
    - Replace urine Na and K losses with 3% saline and appropriate amounts of K.
    - Give 0.5 to 1 mg/kg furosemide by intravenous push, followed by hourly determinations of urine Na and K.
  5. If necessary, hypertonic (3%) saline can be used to raise serum sodium to 125 mEq/L (3% saline = 0.5 mEq Na/mL; must be given slowly) by using the following formula:
    (125 − Present serum Na) × 0.6 (Na space) × Wt (kg)
    Examples:
    - If you wish to raise serum Na by 10 mEq
    10 × 0.6 = 6 mEq/kg = 12 mL 3% saline/kg
    - If you wish to raise serum Na by 5 mEq
    5 × 0.6 = 3 mEq/kg = 6 mL 3% saline/kg
250
Q

Admission criteria for pituitary disorder

A
  1. Electrolyte imbalance
  2. Altered sensorium
  3. Vasomotor instability
251
Q

Discharge criteria for pituitary disorder

A
  1. Input and output can be monitored at home, a caregiver can administer medication as needed, and the patient is clinically stable.
  2. Regular follow-up for monitoring of serum electrolytes and the underlying disease is arranged.
252
Q

What does the adrenal gland do?

A

Responsible for producing two kinds of signaling molecules:

  1. Steroid hormones, produced in the outer adrenal cortex
  2. Catecholamines, generated in the adrenal medulla.
253
Q

What steroids are produced by the adrenal gland?

A
  1. Mineralocorticoid (aldosterone) - produced by cells in the outermost zona glomerulosa
  2. Glucocorticoid (cortisol) - produced by cells in the middle zona fasciculata
  3. Androgen (dehydroepiandrosterone [DHEA] and dehydroepiandrosterone-sulfate [DHEA-S]) classes - produced by cells in the innermost zona reticularis produces DHEA and DHEA-S.
254
Q

Goal of treatment of IEMs?

A
  1. Stabilize cardiopulmonary function
  2. Correct metabolic derangements
  3. Avoid intake and/or endogenous production of potentially toxic substances
255
Q

What are the laboratory hallmarks for IEMs?

A
  1. Acidosis
  2. Hypoglycemia
  3. Hyperammonemia
    (pretreatment)
256
Q

Causes of IEMs

A
  1. Usually caused by single gene defects that result in abnormalities in protein, carbohydrate, fat, or complex molecule metabolism.
  2. Most are due to a defect in, or deficiency of, an enzyme, enzyme cofactor, or transport protein that results in a block in a metabolic pathway.
  3. Clinical effects are the consequence of toxic accumulations of substrates before the block or intermediates from alternative metabolic pathways and/or defects in energy production and utilization due to deficiency of products beyond the block
257
Q

Which disorders of IEM have the greatest risk of life-threatening decompensation?

A
  1. Organic acidemia
  2. Urea cycle defect
  3. Disorder of carbohydrate utilization or production,
  4. Fatty acid oxidation defect
  5. Mitochondrial disorder
  6. Peroxisomal disorder
258
Q

IEM disorders that result in the toxic accumulation of substances

A

Disorders of protein metabolism (i.e., aminoacidopathies, organic acidemias, urea cycle defects), carbohydrate intolerance, and lysosomal storage

259
Q

IEM disorders that result in defects in energy production or utilization

A

Disorders of glycogenolysis and gluconeogenesis, fatty acid oxidation defects, and mitochondrial disorders

260
Q

Which IEM disorders is vomiting a prominent feature?

A
  1. Organic acidemias

2. Urea cycle defects

261
Q

Which IEM disorders is diarrhea a prominent feature?

A
  1. Disorders of carbohydrate intolerance

2. Mitochondrial disorders.

262
Q

Which IEM disorders is lethargy progressing to coma a prominent feature?

A
  1. Organic acidemias
  2. Urea cycle defects
  3. Fatty acid oxidation defects
  4. Certain disorders of carbohydrate intolerance
263
Q

Reasons for false negatives on the newborn screening

A
  1. Screening too soon after birth (especially within the first 24 hours)
  2. Prematurity
  3. Neonatal illness
  4. Medications
  5. Transfusions
  6. Inadequate samples
  7. Inappropriate sample handling
264
Q

The most common life-threatening IEMs to present in the neonate

A
  1. Aminoacidopathies
  2. Organic acidemias
  3. Urea cycle defects
  4. Galactosemia
  5. Hereditary fructose intolerance
265
Q

Manifestations of IEMs in the neonate

A
  1. Poor feeding
  2. Vomiting
  3. Diarrhea
  4. Dehydration
  5. Temperature instability
  6. Tachypnea or apnea
  7. Cyanosis
  8. Respiratory failure
  9. Bradycardia
  10. Poor perfusion
  11. Hiccups
  12. Jaundice
  13. Hepatomegaly
  14. Pseudoobstruction
  15. Irritability
  16. Lethargy
  17. Coma
  18. Seizures
  19. Involuntary movements (e.g., tremors, myoclonic jerks, boxing, pedaling)
  20. Posturing (e.g., opisthotonus)
  21. Abnormal tone (e.g., hypertonia or central hypotonia).
266
Q

What may be the earliest recognized clinical manifestation of an IEM?

A

Sepsis

267
Q

Disorders of IEM with increased risk of sepsis

A
  1. Galactosemia is the classic example.
  2. Organic acidemias
  3. Glycogen storage disorders
268
Q

What is one of the most important clues to an IEM in the neonate?

A

A history of deterioration after an initial period of apparent good health ranging from hours to weeks

269
Q

Symptoms for neonates with IEMs of protein metabolism and carbohydrate intolerance disorders,

A
  1. Onset of symptoms occurs after there has been significant accumulation of toxic metabolites following the initiation of feeding.
  2. Onset of symptoms is usually between 2 and 5 days of life.
  3. Initial symptoms often are poor feeding, vomiting, irritability, and lethargy.
  4. Jaundice occurs most commonly with tyrosinemia, galactosemia, and hereditary fructose intolerance.
  5. Progression to coma, multisystem organ failure, and death is usually rapid
270
Q

Which IEM disorder is most likely to cause jaundice?

A
  1. Tyrosinemia
  2. Galactosemia
  3. Hereditary fructose intolerance
271
Q

Which acute life-threatening IEMs present in infant and young child (1 month to 5 years)?

A

Most commonly:

  1. Partial deficiency of the urea cycle enzyme ornithine transcarbamylase
  2. Fatty acid oxidation defects
  3. Disorders of carbohydrate intolerance
  4. Disorders of gluconeogenesis and glycogenolysis
272
Q

What symptoms do infant and young child (1 month to 5 years) usually present with in IEMs?

A

Typically present during infancy:

  1. Recurrent episodes of vomiting and lethargy
  2. Ataxia
  3. Seizures
  4. Coma
273
Q

How do amino and organic acidopathies present during infancy?

A

Usually with progressive neurologic deterioration.

274
Q

Which disorders present with dysmorphism or coarse features, organomegaly, myopathy, and/or neurodegeneration in infancy?

A
  1. Lysosomal storage disorders
  2. Mitochondrial disorders
  3. Peroxisomal disorders
275
Q

What are the subtle/progressing symptoms of IEMs in infancy/young child?

A
  1. Failure to thrive
  2. Chronic dermatoses
  3. Dilated or hypertrophic cardiomyopathy
  4. Liver dysfunction
  5. Hepatomegaly
  6. Pancreatitis
  7. Musculoskeletal weakness
  8. Hypotonia and/or cramping
    9 Impairments of hearing and vision
  9. Developmental delay, sometimes with loss of milestones
276
Q

IEM disorder associated with SIDS and why?

A
  1. Most commonly fatty acid oxidation defects that cause cardiac arrest due to arrhythmia and/or cardiomyopathy:
    - The most common of these is medium-chain fatty acyl-coA dehydrogenase deficiency.
  2. Other fatty acid oxidation defects, organic acidemias, and congenital adrenal hyperplasia account for most of the remainder of SIDS cases attributable to genetic defects.
277
Q

Common finding of IEM disorders in older children, adolescents, or adults (older than 5 years)

A
  1. Mild to profound developmental delay
  2. Autism
  3. Learning disabilities
278
Q

Which disorder of IEM can manifest in older children, adolescents, or adults (older than 5 years) as a life-threatening encephalopathy?

A

Partial ornithine transcarbamylase deficiency

279
Q

Common symptoms of partial ornithine transcarbamylase deficiency manifesting in older children, adolescents, or adults (older than 5 years)

A

Particularly following protein ingestion in adolescent females with a history of:

  1. Protein aversion
  2. Migraine-like headaches
  3. Vomiting
  4. Abdominal pain
  5. Lethargy
  6. Behavioral problems
280
Q

How do fatty acid oxidation defects present in older children, adolescents, or adults (older than 5 years)?

A
  1. Sudden death
  2. Life-threatening cardiac arrhythmia
  3. Hypoketotic hypoglycemia
  4. Rhabdomyolysis.
281
Q

How do glycogen storage disorders present in older children, adolescents, or adults (older than 5 years)?

A

Usually in adolescents because of their greater participation in sports:

  1. Exercise intolerance
  2. Muscle weakness
  3. Cramping
  4. Rhabdomyolysis
282
Q

How do Some mitochondrial disorders present in older children, adolescents, or adults (older than 5 years)?

A

During adolescence or adulthood:

  1. Loss of vision and/or hearing
  2. Cardiac dysfunction
  3. Myopathy
  4. Neurologic degeneration
  5. Endocrine disturbances
283
Q

Testing for acutely ill patient suggestive of possible IEM?

A
  1. Serum electrolytes, Blood gas, Lactate that detect:
    - Electrolyte imbalances, An increased anion gap and/or Acid–base status abnormalities
  2. BUN and creatinine levels that reveal:
    - Impaired renal function
  3. Total and direct bilirubin, aspartate transaminase (AST) and alanine transaminase (ALT) transaminases, prothrombin time (PT), partial thromboplastin time (PTT), and/or ammonia that indicate:
    - Hepatic dysfunction or failure
  4. Hypoglycemia, particularly with low or absent urine ketones, that suggests:
    - Inability to appropriately metabolize fatty acids or carbohydrates
  5. Urine-reducing substances that suggest:
    - Carbohydrate intolerance
284
Q

Hypoglycemia in the neonate level

A

Serum glucose level of less than 40 mg per dL

285
Q

Hypoglycemia beyond the neonate level

A

Serum glucose level of less than 50 mg per dL

286
Q

Symptoms of hypoglycemia in the neonate

A
  1. High-pitched cry
  2. Hypothermia
  3. Cyanosis
  4. Poor feeding
  5. Decreased level of consciousness
  6. Irritability
  7. Seizures
287
Q

Symptoms of hypoglycemia beyond the neonate

A
  1. Headache
  2. Blurred vision
  3. Repeated yawning
  4. Diaphoresis
  5. Pallor
  6. Nervousness
288
Q

Clinical manifestations of acidosis

A
  1. Vomiting

2. Tachypnea

289
Q

Diagnosis of primary metabolic acidosis

A
  1. Low pH
  2. Low PCO2
  3. Low bicarbonate
290
Q

Which lab value is characteristic of acute metabolic crisis with many IEM?

A

An elevated anion gap acidosis (greater than 16 mmol per L)

291
Q

Progression of manifestations of hyperammonemia?

A
  1. Early: anorexia and irritability
  2. Children and adolescents may report headache, abdominal pain, and fatigue.
  3. Progression to vomiting, lethargy, seizures, coma, and death may occur within hours
292
Q

Problems associated with hyperammonemia

A
  1. Brainstem dysfunction
  2. Cerebral edema
  3. Intracranial hemorrhage.
293
Q

Normal ammonia levels

A

less than 100 μg per dL in neonates and less than 80 μg per dL beyond the neonatal period

294
Q

What is nociceptive or acute pain?

A

Somatic (arising from skin, bone, joint, muscle, and connective tissue) or visceral (arising from internal organs).

295
Q

What is somatic pain?

A

Arising from skin, bone, joint, muscle, and connective tissue

296
Q

What is visceral pain?

A

Arising from internal organs

297
Q

What is neuropathic pain?

A

Pain due to nerve damage and in pediatric patients is more commonly related to trauma (e.g., localized nerve or spinal cord injury), surgery (e.g., post amputation), and chemotherapy (e.g., peripheral neuropathy)

298
Q

What is functional pain?

A
  1. Refers to abnormal presence of, or inappropriate activation of, abnormal pain pathways within the nervous system. (fibromyalgia, irritable bowel syndrome)
  2. Pain circuits may rewire themselves and produce spontaneous nerve stimulation.
299
Q

What is acute pain?

A

Short-lived and occurs with injury or near injury to the tissue due to an adverse chemical, thermal, or mechanical stimulus

300
Q

What is chronic pain?

A

Nociceptive, neuropathic, or functional; it is defined as pain lasting greater than 1 month

301
Q

What is anxiety?

A

A state of apprehension that develops in response to stress and includes behavioral, emotional, and physiologic responses.

302
Q

What is agitation?

A

An exaggerated state involving excessive, often nonpurposeful motor activity. Nonpurposeful activity is associated with physiological responses that may be accompanied by anxiety, panic, depression, delusions, hallucinations, or delirium.

303
Q

The primary processes of nociception?

A
  1. Transduction
  2. Transmission
  3. Modulation
  4. Perception.
304
Q

What is transduction?

A

Transduction refers to the pain initiation phase during which, noxious stimuli activate free nerve endings known as primary afferent nociceptors at the site of tissue damage and transmit these impulses to the spinal cord

305
Q

What are the two types of nociceptor fibers?

A
  1. A-delta: thinly myelinated, rapidly conducting fibers that are primarily responsible for sensations characterized as sharp, stabbing, well-localized pain with a high threshold for firing in response to mechanical or thermal stimuli that once activated, they dramatically increase their rate of firing as the stimulus intensity increases.
  2. C fibers: unmyelinated fibers that respond to noxious mechanical, thermal, and chemical stimuli; conduct impulses at a slower rate; and tend to induce pain more characterized as dull, aching, and poorly localized
306
Q

What is produced and releases in response to tissue injury?

A

A variety of substances that stimulate or sensitize nociceptors:

  1. Bradykinins
  2. Serotonin
  3. Histamine
  4. Potassium ions
  5. Norepinephrine
  6. Prostaglandins
  7. Leukotrienes
  8. Substance P.
307
Q

What is done to educe hypersensitization and the chain of events leading to acute pain in anticipation of postoperative pain and why?

A

The use of presurgical regional nerve blocks and analgesics:
A-delta and C fiber nociceptors have the property of sensitization, which results in the receptors becoming more sensitive and more reactive with repeated stimuli. resulting in a decreased pain threshold and an enhanced response to subsequent painful stimuli

308
Q

What is the body’s response to cellular damage?

A

Causes the release of phospholipids and other substances from the cell’s lipid membrane into the intracellular space.
The release of phospholipids initiates the arachidonic acid cascade.
The arachidonic acid cascade activates 5-lipo-oxygenase and cyclo-oxygenase (COX), resulting in the synthesis of leukotrienes and prostaglandins.
Leukotrienes and prostaglandins sensitize the nociceptors so that they may be activated by weaker stimuli that normally would not induce pain signals. (Inhibition of leukotriene and prostaglandin synthesis may improve pain control when tissue damage is known or suspected.)

309
Q

How do NSAIDs treat pain?

A

By decrease the synthesis of leukotrienes, thereby decreasing pain, swelling, and edema in the peripheral tissues.
Several NSAIDs also appear to be potent inhibitors of prostaglandin synthesis. Those that are more lipophilic (e.g., ibuprofen) penetrate better in the central nervous system (CNS) and inhibit synthesis of both peripheral and central prostaglandins, whereas acetaminophen only blocks prostaglandin synthesis in the CNS.

310
Q

What is transmission?

A

the second process of nociception, comprises the propagation of the impulses through the sensory nervous system by primary afferent neurons that synapse in the dorsal horn of the spinal cord and then ascend to the brain stem, thalamus, limbic system, and areas in the cerebral cortex.
Although multiple pathways are assumed to affect the pain signals, THE DORSAL HORN OF THE SPINAL CORD is the primary coordinating site and is largely affected by descending stimulating and inhibitory signals from the brain.

311
Q

What is modulation?

A

The third step in the nociception process and refers to the alteration of pain sensation by endogenous mechanisms. Modulation may result in attenuation or amplification (“wind-up”) of the pain intensity and duration. (the slow, prolonged depolarization and hyperexcitability by the dorsal horn neurons seen with repeated painful stimulation)
The most important site where these effects occur is THE DORSAL HORN OF THE SPINAL CORD

312
Q

What causes amplification or pain wind-up and why is this important?

A

This mechanism is thought to be partly due to the slow response of NMDA receptors and the sustained release of substance P. Several neuronal changes occur during this hyperexcitability state:
1. Subsequent painful stimuli evoke a longer and intense period of action potential firing leading to hyperalgesia (increased pain sensitivity to damaged tissues).
2. The size of the receptive fields increases, leading to a secondary hyperalgesia (increased pain sensitivity to surrounding tissues).
3. The threshold for firing action potentials is lowered, resulting in allodynia (pain in response to normally minimally painful stimuli).
This propensity for increased and prolonged pain as a result of this mechanism is a rationale for early treatment and ensuring that pain is well controlled.

313
Q

Where does modulation occur and what is released there?

A

Between interneurons and by pathways of descending inhibition originating in the thalamus and brain stem, which inhibit synaptic pain transmission at the dorsal horn of the spinal cord.
Neurons within these pathways release inhibitory neurotransmitters, including norepinephrine, serotonin, gamma-aminobutyric acid (GABA), glycine, and enkephalin. The inhibitory neurotransmitters then block the release of substance P, glutamine, and other excitatory neurotransmitters.

314
Q

How do pain medications affect modulation?

A
  1. Opioids mimic this descending pain inhibitory system by binding to endorphin receptors throughout the CNS. 2. Alpha 2 agonists (e.g., clonidine, dexmedetomidine) act both before and after synapses at alpha 2 receptors in the dorsal horns of the spinal cord to hyperpolarize cell membranes and inhibit generation of the action potential.
315
Q

What is the endogenous opiate system?

A

Another mechanism responsible for modulating pain impulses:
This system consists of neurotransmitters such as enkephalins, dynorphins, and beta-endorphins that are found throughout the CNS and bind to specific opioid receptors.

316
Q

What are the main types of opioid receptors and what do they do?

A

Mu, delta, and kappa, each of which have their own subtypes.
All three receptors induce membrane hyperpolarization, which inhibits generation of an action potential, thereby modulating the transmission of pain impulses.

317
Q

What is perception?

A

The final step: the brain processes the nociceptive input as perceived pain.
Pain is perceived as a multidimensional sensory and emotional experience to which the body mounts both physical and behavioral responses. Expression of pain is clearly different in pediatric patients when compared with adults and is affected by a number of factors, including developmental age and medical condition. In nonverbal children, the HCP must rely on the pediatric patient’s behavioral and physiological responses and information provided by the caregiver on the child’s usual response to pain.

318
Q

Physiological responses to acute pain (untreated)

A
  1. Tachycardia,
  2. Hyperventilation
  3. Hypertension
  4. Diaphoresis
  5. Dydriasis
  6. Increased myocardial oxygen consumption.
  7. Inadequate ventilation, resulting in hypoxia and stimulation of neuroendocrine responses, causing the release of corticosteroids, growth hormone, and catecholamines, plus decreased insulin secretion.
  8. These responses produce hyperglycemia and a breakdown in carbohydrates and fat stores, which may lead to metabolic acidosis from an increase in blood levels of lactate, pyruvate, ketone bodies, and fatty acids.
319
Q

Psychological adverse effects of untreated pain

A
  1. Avoidance behaviors
  2. Interrupted sleep patterns
  3. Irritability
  4. Outbursts of anger
  5. Depression up to 1-year post discharge in children following pediatric intensive care unit (PICU) hospitalization
  6. Posttraumatic stress disorder (PTSD)
  7. Acute stress disorder (ASD) in hospitalized children with injury-related traumatic events and illness-related traumatic events
320
Q

Criteria for PTSD?

A

Include three main categories of symptoms:
(1) patient re-experiences the traumatic event (e.g., nightmares)
(2) the patient shows avoidance behaviors toward trauma-related stimuli (e.g., avoids conversations, people, or places)
(3) the patient experiences a heightened arousal state (e.g., sleep disturbances).
Symptoms must be present for at least 1 month for diagnosis of PTSD.
Some reported predictors for PTSD include uncontrolled pain, parental stress, preexisting psychiatric disorders, and previous hospitalizations

321
Q

Important principles in the pharmacokinetic difference in pediatric patients

A
  1. Neonates have delayed maturation of the cytochrome P450 hepatic enzyme system involved in drug metabolism, resulting in a reduced clearance of drugs, particularly opioids and amino-amide local anesthetics. In general, maturation of these enzyme functions occurs by 6 months of age.
  2. The relatively higher body water content in neonates and infants results in a larger volume of distribution of water-soluble drugs and the potential for a longer duration of medication action.
  3. The relatively smaller fat and muscle stores in neonates result in higher plasma concentrations of drugs because fewer active sites for drug binding or uptake are available; this factor leads to increased risk of toxicity and adverse effects.
  4. Protein binding of drugs is reduced in neonates compared with older children because of lower plasma levels of albumin; this factor may cause a greater medication effect or increased plasma free drug concentration.
  5. Renal excretion of medications depends on renal blood flow, glomerular filtration rate, and tubular secretory function, all of which are decreased in infants. These variations may require adjustments in drug dosages and intervals to prevent adverse effects.
  6. Neonates have decreased ventilatory responses to hypoxemia and hypercarbia. These ventilatory responses can be further impaired by CNS depressant medications such as opioids and benzodiazepines.
322
Q

Age appropriate for FACES pain scale

A

3-6 years

323
Q

Age appropriate for NRS pain scale

A

pediatric above 6 years

324
Q

What does FLACC stand for and what ages?

A
  1. Faces
  2. Legs
  3. Activity
  4. Cry
  5. Consolability
    (2 months - 7 years, children younger than 16 years, cognitively impaired, critically ill)
325
Q

What is the COMFORT Behavioral (Comfort-B) scale?

What ages?

A
  1. A sedation scale used to assess critically ill children receiving invasive and noninvasive respiratory support. 2. The tool includes six dimensions: alertness, calmness, respiratory response, movement, muscle tone, and facial expression
  2. Each dimension is scored 1 through 5, with total scores ranging from 6 to 30. Scores less than 11 demonstrate over sedation, scores between 11 and 22 show adequate sedation, and scores greater than 22 show under sedation.
  3. The tool has demonstrated reliability and validity in children 0 to 10 years of age
326
Q

What is the State Behavioral Scale ( SBS )?

What ages?

A
  1. Measures sedation in pediatric patients supported by mechanical ventilation
  2. The tool comprises seven dimensions on the sedation to agitation continuum, with scores ranging from − 3 (unresponsive) to +2 (agitated).
  3. Mechanically ventilated children aged 2 weeks to 17 years
327
Q

What is the Richmond Agitation-Sedation Scale (RASS)?

A
  1. Developed to assess level of sedation or agitation with scoring range of +4 (combative) to − 5 (unarousable) in critically ill adult patients
  2. However, the RASS is commonly used to assess level of sedation in critically ill children and during procedural sedation in spontaneously breathing children, but to date it has only been validated in a single center pediatric study
328
Q

What is the University of Michigan Sedation Scale (UMSS)?

What ages?

A
  1. Developed to assess the depth of sedation during procedural sedation in children 0 to 17 years of age
  2. Scores range from 0 (awake) to 5 (unarousable).
  3. The tool has been validated in two single center pediatric studies totaling 491 patients
329
Q

Most reliable tools for for sedation levels in pediatrics?

A
  1. Comfort B

2. SBS

330
Q

Common sedatives used in peds

A
  1. Midazolam

2. Lorazepam

331
Q

Midazolam pharmacology

A
  1. CNS depressant
  2. Hypnotic
  3. Sedative
332
Q

Midazolam indications

A
  1. Sedation
  2. Anxiolysis
  3. Respiratory synchrony
333
Q

Midazolam onset of action

A 
Onset of action:
IV: 1-5 min
PO: 10-20 min
IM: 5 min
IN: 5.5 +/- 2.2 min
334
Q

Midazolam duration

A

IV: 20-30 min
IM: 2-6 hr
IN: 23 min

335
Q

Midazolam metabolism

A

liver

336
Q

Midazolam half life

A

IV: 2.9 - 4.5 hr
PO: 2.2 - 6.8 hr

337
Q

Midazolam significant side effects

A
  1. Cardiac arrest
  2. Hypotension
  3. Bradycardia
  4. Concurrent opioid usage can cause respiratory depression/arrest, profound sedation, coma, death
338
Q

What to know about using midazolam in critically ill patients?

A

Dose titration to effect is an important consideration because patients with hepatic and renal insufficiency or failure may require lower dosage because of the medication’s active metabolite

339
Q

Lorazepam pharmacology

A
  1. CNS depressant
  2. Hypnotic
  3. Sedative
340
Q

Lorazepam indications

A
  1. Sedation

2. Anxiolysis

341
Q

Lorazepam onset of action

A

IV: 2-3 min
IM: 20-30 min

342
Q

Lorazepam duration

A

8-12 hours

343
Q

Lorazepam significant side effects

A
  1. Concurrent opioid usage can cause respiratory depression/arrest, profound sedation, coma, death
  2. Hypotension
  3. Apnea bradycardia
  4. Cardiac failure
  5. Parenteral formulation mixed with polyethylene glycol can result in toxicity (kidney failure, lactic acidosis, osmolar gap) with high dose/long term therapy
344
Q

What to know about lorazepam?

A

Long half life disallows continuous infusions

345
Q

Problems with benzodiazepines?

A
  1. Risk for delirium
  2. Use the minimum effective dose is warranted to potentially limit the risk of delirium and the associated impact in this vulnerable group of children.
346
Q

Diazepam pharmacology

A
  1. CNS depressant
  2. Hypnotic
  3. Sedative
347
Q

Diazepam indications

A
  1. Sedation

2. Anxiolysis

348
Q

Diazepam onset of action

A

IV: 1-5 min
PR: 2-10 min

349
Q

Diazepam duration

A

60-120 min

350
Q

Diazepam significant side effects

A
  1. Concurrent opioid usage can cause respiratory depression/arrest, profound sedation, coma, death
  2. Rapid IV push may cause sudden hypotension/respiratory depression
  3. Apnea
  4. Bradypnea
  5. Cardiac Arrest
  6. Use with cause in neonate/children if containing benzoic acid, benzyl alcohol, and sodium benzoate

Acute Care 1 (2 decks)

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