Pediatric Diabetes Type 1

Question 1

how peds patients present with diabetes

Answer 1

belly pain
voiding extra in the night
polydipsia

labs- high random glucose, urinary glucose and ketones

Question 2

what do we do when a kid shows up with DKA in our office?

Answer 2

send him to the ED

Question 3

what do we do in the ED with a kid in DKA?

Answer 3

Start with fluids- IV saline

2. Insulin drip- put insulin as close to the skin as possible. .1 units/kilo/hr
3. (sometimes some glucose)

labs to obtain:

• BMP (Na, K, Cl, CO2, BUN, Cr, Gluc)
• CBC
• HbA1C
• Blood gas (ABG vs VBG- VBG is fine)

Question 4

calculate maintenance fluids

Answer 4

4-2-1

4 per kilo for the first 10 kg
2 per kilo for the next 10
and then 1 per thereafter

Question 5

number one cause of death for DKA pts in the ED

Answer 5

cerebral edema

too-fast hydration

Question 6

when do we avoid giving potassium?

Answer 6

if they haven’t voided!

make sure they’re not hyperkalemic

Question 7

why is sodium low in DKA?

Answer 7

extra glucose causes sodium to go down

every 100 –> sodium drops about 2.4

Question 8

when do we stop IV insulin and fluids?

Answer 8

1. Anion gap less than 12
2. Venous pH greater than 7.3 or HCO3 greater than 15
3. Glucose less than 200
4. Tolerating oral intake

Question 9

Na in DKA

Answer 9

hyponatremia typically, for every 100mg/dl glucose is above normal Na decreased by 2.4 mEq/L. May also see pseudohyponatremia due to lipemia
- Important: Failure of Na to improve may be early sign of risk of cerebral edema

Question 10

K+ in DKA

Answer 10

In DKA there is total body K depletion. So, if patient is hyperkalemic, monitoring K and careful titration of insulin is vital

Question 11

ECG findings in DKA

Answer 11

Hypokalemic will cause flat T waves, U wave, prolonged PR interval

Hyperkalemia will cause peaked T waves

Question 12

Insulin effects in DKA

Answer 12

: promotes metabolism of ketoacids producing HCO3, also stops new ketoacid production.

Question 13

fluids in DKA

Answer 13

: improve renal perfusion, enhances excretion of ketone bodies and improves tissue perfusion to decrease lactic acidosis

Question 14

Do NOT give bicarb therapy in DKA-problems!!!

Answer 14

Paradoxical drop in CNS pH due to decreased resp rate

• Slows recovery of ketosis
• Post treatment alkalosis
• Risk of increasing hypokalemia
• May increase osmolality prior to decrease in glucose
• Increased risk of cerebral edema

Question 15

Complications of DKA

Answer 15

Mortality: 0.15-0.5%, most often due to cerebral edema. Higher risk in younger children, initial event and severity of acidosis. Usually occurs in first 12 hrs of treatment
Cardiac arrhythmias
Venous thrombosis
Aspiration
Cognitive impairment

Question 16

Why do primary care Pediatricians care about patient’s growth?

Answer 16

-assure patients are growing well
Normal growth is - sign that a child is thriving
Deviation from normal growth may be one of the first signs that something pathologic is occurring

-important to understand and know how to diagnose and treat causes of short stature.
MANY etiologies, including endocrine etiologies, as well as many others.

Question 17

Normal Growth

Answer 17

Is continuous but not linear

Question 18

Prediction of adult height:

Answer 18

Midparental height:
Girls: Subtract 5 inches from Father’s height and average with Mother’s height
Boys: Add 5 inches to Mother’s height and average with Father’s height
For both sexes: 3.3 inches either side of this height is considered target height.

Question 19

Short stature

Answer 19

For medical purposes: Adult height of 63 inches for men and 59 inches for women is considered short stature

Definition of short stature

= height that is 2 standard deviations or more below the mean height for individuals of the same sex and chronologic age in a given population

• This is essentially below the 3rd percentile

Question 20

Etiologies for short stature

Answer 20

Familial short stature
Constitutional growth delay
Small for gestational age
Undernutrition
Glucocorticoid excess
GI disease (Crohn’s, Ulcerative colitis, Celiac)
Rheumatologic (especially JIA)
Renal disease (chronic renal failure, RTA)
Malignancy
Pulmonary disease (Cystic fibrosis, Asthma)
Immunodeficiencies
Hypothyroidism
Growth hormone deficiency
Precocious puberty
Turner syndrome, Noonan’s, Russell-Silver syndrome, SHOX
Chondrodysplasias (Achondroplasia, hypochondroplasia, Osteogenic imperfecta)

Question 21

When considering evaluation for short stature, 3 questions are relevant:

Answer 21

How short is the child?
Is the child’s height velocity impaired?
What is the likely adult height?

Question 22

Who should be evaluated?

Answer 22

Children above the 3rdpercentile usually don’t need to have evaluation, unless they are showing progressively decreasing growth percentiles, dysmorphic features or underlying systemic disease

Children below the 3rdpercentile if the height velocity is decreased

Children below the 1stpercentile. These may be normal children if height velocity is normal, but index of suspicion should be high

• Short children with normal height velocities usually have nonpathologic etiology for their short stature
• – Familial short stature
• – Constitutional growth delay

Question 23

Children likely to have growth failure:

Answer 23

Height for age curve crosses 2 lines after age 2 (eg: above 25thpercentile to below 10thpercentile)
Age 2-4years: Height velocity less than 5.5 cm/yr
Age 4-6 years: Height velocity less than 5 cm/yr
Age 6-puberty: Height velocity less than 4 cm/yr for boys and 4.5 cm/yr for girls

Question 24

In order to evaluate patient’s with short stature, you need to have a few things:

Answer 24

History and Physical Exam
Accurate serial measurements of height and weight
Bone age film (left wrist)
Blood work will distinguish most other disorders (CBC, ESR,CRP, CMP, Celiac profile, TSH, T4, LH, FSH, urine free cortisol, and Karyotyping)

Question 25

normal variants of growth

Answer 25

short stature- often short parents. normal bone age, low-normal height velocity

constitutional delay of growth and puberty- normal height for bone age but not for chronological age. Delayed bone age. Slow height velocity, pubertal growth suprt delayed but prolonged

SGA with catch-up growth- most catch up by 2 years. normal bone age

Question 26

Familial Short Stature

Answer 26

Short people make short people
However, even short people can be suffering from a pathologic disorder that makes them even shorter than one would expect from genetics.
Evaluation depends on if there is abnormalities in height velocity or relative short stature.
- accomplished by bone age and assessment of midparental height
- If bone age is normal and patient falls within the 3rdand 97thpercentile for expected height, then patient most likely has familial short stature
- However, in girls Turner syndrome may have normal bone age and early systemic disease may still present with normal bone age.

Question 27

Constitutional Growth of Delay

Answer 27

those people you know who were “late bloomers”
these patients tend to show significant delay in bone age
– Other disorders may show delayed bone age, these include nutritional deficiency, systemic disease and growth hormone deficiency
In addition to bone age, these children may require basic lab work to exclude pathology
– CBC, ESR, CRP, CMP, celiac profile and IGF1and IGfBP3
Growth should be closely monitored as children with Constitutional growth delay tend to have low normal height velocity and delayed puberty

Question 28

Small for Gestational Age

Answer 28

This is a result of intrauterine environment.
Most of these children have catch up growth.
Those that don’t may benefit from Growth hormone treatment.

Question 29

Undernutrition

Answer 29

can be a result of reduced intake due to anorexia/bulimia or inadequate availability of food sources.
The diagnosis can be made by history and PE for the most part
the growth curves will show low weight to height ratio.

Question 30

Glucocorticoid Therapy/ Cushing’s

Answer 30

When treating multiple disorders, chronic steroid therapy may be required
- Systemic steroids have a more profound effect
- daily steroids more significant than every other day therapy
- both of these more significant than topical steroid use as seen in asthma therapy.
Steroids suppress growth through several different mechanisms, including interference with endogenous growth hormone secretion and action, bone formation, nitrogen retention, and collagen
Cushings: Endogenous production of excess steroid, result is similar to exogenous steroid use.

Question 31

GI Disorders (Crohn’s, UC, and Celiac)

Answer 31

May be associated with other symptoms, abdominal pain, GI bleeding, joint pain, oral ulcers, anal skin tags, malabsorption.
These can be delineated with labs including CBC, ESR, CRP and celiac profile.
Growth failure is due to chronic inflammation and poor intake or malabsorption.

Question 32

Renal disease: Chronic renal failure

Answer 32

primary causes of growth failure in children with chronic kidney disease are disturbances of growth hormone metabolism and its main mediator, insulin-like growth factor-I (IGF-I)
Other factors may include metabolic acidosis, uremia, poor nutrition secondary to dietary restrictions, anorexia of chronic illness, anemia, calcium and phosphorus imbalance, renal osteodystrophy, or use of high-dose glucocorticoids if used for treatment.
These patients may benefit from the use of Growth Hormone

Question 33

Malignancy

Answer 33

Numerous reasons for this to result in growth failure including undernutrition due to anorexia, steroid use,
In cases of head and neck malignancy or leukemias, irradiation of brain may result in hypothyroidism or pituitary dysfunction

Question 34

Pulmonary Disease and growth

Answer 34

• Cystic fibrosis is both a pulmonary and gastrointestinal disease.
• Growth failure in this disorder may be caused by multiple mechanisms, including poor food intake, maldigestion or malabsorption, chronic infection, and increased energy requirements (work of breathing)
  Immune deficiencies also may present with pulmonary symptoms and/or growth failure.

Question 35

Cardiac diseaseand growth

Answer 35

Growth failure is common in children with severe heart disease of any cause.
Major pathogenic factors are thought to be anorexia and increased basal energy requirements
Occasionally, growth failure is the presenting feature of the heart disease.

Question 36

Immunologic Disease

Answer 36

Human immunodeficiency virus (HIV) infection is associated with growth failure
Mechanisms include anorexia, malabsorption, diarrhea, severe infections, and failure of one or more organ systems

Question 37

Metabolic Diseases

Answer 37

Growth failure is common in children and adolescents with many of the inborn disorders of metabolism

• most common is type 1 diabetes mellitus
  In the past, type 1 diabetes mellitus was an important cause of short stature and attenuated growth because of caloric deficit resulting from severe glucosuria.
  it is now rare because of improvements in therapy. Children with type 1 diabetes have some decrease in IGF-1 production or action, and there is a negative correlation between hemoglobin A1C (as an index of metabolic control) and adult height.
  in children with fair to good metabolic control, growth and adult height are usually within normal ranges.
  Occasionally, children with diabetes and very poor glycemic control develop Mauriac syndrome, characterized by attenuated linear growth, delayed puberty, hepatomegaly, and Cushingoid features.

Question 38

Endocrine Causes of growth failure

Answer 38

Primary endocrine disorders with effects on growth are uncommon but are important to identify because they can be treated.
In general, these disorders are characterized by excessive weight for height.
They should be considered in any child with markedly reduced height velocity, and especially in those with other pituitary disorders, brain tumors, septo-optic dysplasia (also known as optic nerve hypoplasia), midline brain and facial defects, neonatal hypoglycemia, history of cranial irradiation, or a familial pattern of growth hormone deficiency.
Any patient with an abnormality of one pituitary hormone (central hypothyroidism, Cushing disease, or growth hormone deficiency) should be evaluated for other pituitary hormone deficiencies

Question 39

Hypothyroidism

Answer 39

Growth failure is a well-recognized consequence of hypothyroidism during childhood and may be the presenting feature
The bone age is usually delayed; as a result, many children with hypothyroidism have a reasonably normal growth potential once the disorder is identified and treated.
The evaluation should include measurements of both TSH and free thyroxine to allow detection of both primary and central hypothyroidism.
- Measurement of serum TSH alone will not detect central hypothyroidism as it can be low, normal, or even slightly elevated.

Question 40

Growth Hormone Deficiency

Answer 40

usually from deficiency of growth hormone-releasing hormone (GHRH)

• also by sellar and parasellar tumors (eg, craniopharyngioma that destroy the pituitary gland –> may be deficiencies of multiple hormones produced by the anterior pituitary

rare cause : inactivating mutation of the GHRH receptor that is inherited in an autosomally recessive manner.
If growth hormone deficiency is congenital and complete, the diagnosis is relatively easy to confirm.
- Affected children present with severe postnatal growth failure, delayed bone age, and very low serum concentrations of growth hormone, IGF-I, and IGF-binding protein-3 (IGFBP-3, the major circulating binding protein for IGF-I).
- hypoglycemia, prolonged jaundice, and micropenis, especially if gonadotropins are deficient as well.

can have striking catch-up growth during growth hormone replacement therapy

Children with a sellar or parasellar tumor that causes growth hormone deficiency occasionally experience rapid catch-up growth after surgical resection of the tumor without growth hormone treatment
- this phenomenon is known as “growth without growth hormone” and is not fully understood.

Question 41

In children with less severe growth failure, whose height may still be within the normal range for age,

Answer 41

the decision to undertake detailed testing should be based on strict criteria.
It is therefore mandatory to obtain accurate serial measurements of height.
Any evidence of central nervous system disease or other anterior pituitary hormone deficiencies should lead to measurement of IGF-I and provocative testing of growth hormone (growth hormone stimulation tests).
These provocative tests are not definitive but can be a valuable diagnostic tool when combined with history, PE and bone age data and measurements of IGF-I and IGFBP-3.
Congenital growth hormone insensitivity is a very rare disorder characterized by high serum growth hormone concentrations with low serum IGF-I and IGF binding-protein-3 concentrations.
In its complete form, this condition is called Laron-type dwarfism (complete growth hormone insensitivity).

Question 42

Sexual Precocity

Answer 42

Several conditions are associated with increased secretion of gonadal steroids (estradiol in girls and testosterone in boys), which have two consequences

• sexual precocity.
• accelerated epiphyseal development, which causes rapid childhood growth but more rapid advancement of bone age.
  –> height age is advanced compared with chronologic age, but it lags behind the markedly accelerated bone age.
  If their growth is not halted, these tall children will be short adults because early epiphyseal closure stops linear growth prematurely.

Question 43

Sexual Precocity types

Answer 43

Gonadotropin-dependent precocious puberty (GDPP),

Gonadotropin-independent precocious puberty (GIPP)

Question 44

Gonadotropin-dependent precocious puberty (GDPP),

Answer 44

also known as central (or true) precocious puberty
refers to the early occurrence of normal puberty
Precocious puberty historically had been defined as sexual development in girls before the age of eight years and in boys before the age of nine years
- however, data for girls, particularly black girls, indicate that the age of onset of normal puberty is younger
hallmarks of precocious puberty are accelerated growth and advanced bone age, plus breast development in girls and penile enlargement and sexual hair growth in boys
The pattern of secretion of pituitary gonadotropins and gonadal sex steroids is normal but early.

Question 45

Gonadotropin-independent precocious puberty (GIPP)

Answer 45

also known as peripheral precocious puberty
refers to sexual precocity due to adrenal or gonadal disorders (or rarely tumor production of human chorionic gonadotropin in boys)
This pattern also may be seen in the setting of McCune-Albright syndrome or exposure to exogenous sex steroid
The clinical manifestations are similar to those of GDPP, except that the sexual development may be that of the opposite sex, eg, androgen effects in girls with congenital adrenal hyperplasia.

Question 46

Turner Syndrome

Answer 46

• important consideration in girls with short stature and especially growth failure
• shortness may be the presenting feature
• other physical abnormalities are variably expressed

-may have a square “shield” chest, webbed neck, cubitus valgus (increased carrying angle of the arm), genu valgum (inward tilting knees), shortened fourth metacarpals, and Madelung deformity of the forearm

Question 47

Prader-Willi Syndrome

Answer 47

most common syndromic form of obesity
Obesity and hyperphagia typically develop during early childhood and can be severe
Other common clinical characteristics are hypotonia and feeding problems during infancy, developmental delay, and hypogonadism
Short stature is common but may not develop until late childhood when the child fails to undergo a pubertal growth spurt
Treatment with growth hormone improves linear growth and body composition.

Question 48

Noonan Syndrome

Answer 48

characterized by minor facial dysmorphism (hypertelorism, downward eye slant, and low-set ears), proportionate short stature, and heart disease, most often pulmonic stenosis and hypertrophic cardiomyopathy.
Other common findings include a short webbed neck, chest deformity (pectus excavatum), cryptorchidism, intellectual disability (mental retardation), bleeding diathesis, and lymphedema
a relatively common autosomal dominant disorder with an estimated incidence of one in 1000 to 2500 live births.
Approximately 50 percent of children with Noonan syndrome have a mutation in the PTPN11 gene, mapped to chromosome 12q24.1, which encodes the non-receptor protein tyrosine phosphatase SHP2. Children with mutations in PTPN11 have mild growth hormone resistance

Question 49

Russell-Silver Syndrome

Answer 49

= Silver-Russell syndrome/ Russell-Silver dwarfism

• severe intrauterine growth restriction
• postnatal growth retardation
• prominent forehead, triangular face, downturned corners of the mouth, and body asymmetry (hemihypertrophy).
• facial features –> less obvious with age.
• feeding difficulties, mild developmental delay
• associated with epigenetic alterations: hypomethylation of an imprinting control region that regulates expression of the insulin-like growth factor-2 (IGF-2) gene and others on chromosome 11p15.5.
• IGF-2 is known to have important effects on growth, especially during fetal development.

Question 50

Skeletal Dysplasias

Answer 50

associated with short stature- caused by inherited defects in cartilage/bone development and are often associated with disproportionate short stature (with limbs disproportionately short for the trunk, or vice versa)

• should be suspected in a child presenting with short stature and bone deformities, recurrent fractures, or abnormal findings on radiographs (eg, enchondromas, bowing or shortening of the long bones, vertebral defects, or rib abnormalities).
• variable phenotypes: achondroplasia, hypochondroplasia, spondyloepiphysial dysplasia, and osteogenesis imperfecta.
• The most common : dyschondrosteosis (due to SHOX mutations in 61.5 percent of those undergoing genetic testing) and hypochondroplasia (due to FGFR mutations in 25 percent of those subjects undergoing genetic testing).
• especially prevalent among those with parents who are also very short.

Question 51

Mauriac syndrome

Answer 51

Occasionally, children with diabetes and very poor glycemic control develop Mauriac syndrome, characterized by attenuated linear growth, delayed puberty, hepatomegaly, and Cushingoid features.