Pediatric Gastroenterology Flashcards
1
Q
Stool
A
- Each individual will have his/her own stooling pattern and assessment should be individually tailored
- some breastfed infants will have no bowel movements for seven to ten days
- withholding behavior
- toileting habits
- change in environment (school, day-care, diet)
2
Q
constipation
A
- delay or difficulty with defecation
- variation with age:
- newborn – first bowel movement in 24 hours
- first week of life - average of 4 stools per day
- breast-fed - usually above average
- formula-fed - usually below average
- two years of age - average two per day
- four years of age - average of one per day
- Categories of constipation
- Functional accounts for 95%- Without organic or biochemical cause.
- Organic accounts for 5%
- By and large you will see constipation that doesn’t need to be surgically corrected
3
Q
functional constipation
A
- Diet
- Transitions
- Change from breast milk to formula
- Introduction of solids
- Formula to cow’s milk
- Toilet training
- Any new life changes
- Rule out organic disease
- Delayed growth
- Urinary incontinence, leg weakness, leg numbness
- Failure to thrive
- Vomiting, diarrhea
- Delayed passage of meconium
- Bloody stool
- Rome 4 criteria - diagnostic criteria for functional constipation
- If there is a real fight or they cry immediately if you are looking at the GU, you need to investigate further
- KNOW THE ALARM SIGNS
- Treatment Principles
- Treat early
- Treatment will be longer than expected
- Anticipate transitions
- Behavior modification
- encourage positive reinforcement
- encourage child’s mastery over toileting
- Medications
- infant – increased water, prune or pear juice
- toddler – same as infant and polyethylene glycol
- school age - polyethylene glycol, magnesium
- Enemas are avoided in the chronic setting – but they can offer great relief in acute setting
- Avoid glycerin suppositories – families can become dependent on it.
- If a baby doesn’t poop in first 24 hrs of life and you give a suppository, this tells you NOTHING about the possibility of Hirshprung disease
- Some people will say they tried miralax and it didn’t work. This could be for a few reasons: some kids don’t like that it makes fluid more viscous, they are not having enocgh of the miralax, or they did not try miralax for long enough
- Treatment Principles
4
Q
organic constipation
A
- Hirschprung disease
- Tethered cord
- Infantile botulismc
- Lead poisoning
- Cow’s Milk Intolerance
- Cystic fibrosis
- Hypothyroidism
5
Q
Hirschsprung disease
A
- motor disorder of the colon caused by the failure of neural crest cells to migrate completely during colonic development
- chronic constipation
- failure to thrive
- onset of symptoms in first week of life
- delayed passage of meconium
- abdominal distention
- vomiting
- a transition zone on a contrast enemc
- abdominal film – the abnormal section is the bottom part: has abnormal ganglion cells, the gut dilates and you can get toxic megacolon
- barium enema
- anorectal manometry
- rectal biopsy (gold standard) – looking for ganglion cells – if there are none, that is dx
- Treatment
- excision of aganglionic segment
- two stage surgery
- colostomy placement
- re-anastomosis
- megacolon
- emergent management
- fluid
- antibiotics
- emergent management
6
Q
tethered cord
A
- This is what we are concerned about when we see sacral dimples and hair tufts in newborns
- Spinal cord is tethered to scar tissue or other areas and is not floating free
- Spectrum of this disease is spina bifida or openings to the skin
- Orthopedic abnormalities in LE (Photo 1)
- Sacral Dimple (2)
- Long hair on the lower back (3)
- A crooked gluteal crease (4)
- A lump of the lower back. (5)
- Changes in gait or walking.
- Pain or tingling the legs or back
- Curvature of the spine
- Trouble with bowel or bladder control, such as difficulty in toilet training in a toddler, loosing control in a toilet trained child or no being able to hold urine until getting to the bathroom.
7
Q
infantile botulism
A
- neuroparalytic syndrome from the action of a neurotoxin elaborated bycClostridium botulinum
- constipation – often the presenting symptom
- weakness
- feeding difficulties
- hypotonia
- drooling
- weak cry
- the severe problem with this is they go into severe respiratory failure
- Ex) kid comes in with constipation and over the next day has lost tone and is very weak – want to refer to ED for further evaluation
8
Q
other organic causes of constipation
A
- Cystic Fibrosis – caught on newborn screen
- stool is thick and may become obstructive
- meconium ileus develops
- Hypothyroidism
- lethargy, slow movement, hoarse cry, feeding problems, macroglossia, umbilical hernia, dry skin
- short stature
9
Q
organic cause workup
A
- Directed by history and exam but could include:cc
- urinalysis and urine culture
- CBC
- thyroid function tests (TSH, thyroxine level)
- lead level
- plain abdominal film – for the parents to see how much stool buildup there is, not necessarily for you to make your diagnosis
- barium enema
- MRI of the spinal cord
- anorectalmanometry
- colonic transit studies
- Testing for botulism toxin
10
Q
GI bleeding
A
- hematemesis
- implies recent or ongoing hemorrhage proximal to the ligament of Treitz
- hematochezia
- describes bring red or maroon colored stool suggests bleeding from the colon
- melena
- black, tarry stool associated with bleeding proximal to the ileocecal valve
11
Q
approach to GI blood
A
- assess hemodynamics
- ascertain presence of blood
- identify bleeding source
12
Q
assess hemodynamics
A
- signs of decreased vascular volume
- tachycardia
- postural hypotension
- pallor
- prolonged capillary refill time
13
Q
is it really blood
A
- Bloody emesis and stool is a very common complaint, but many things can be confused for blood:
- Food dyes (red drinks, beets)
- Medications (Iron or bismuth containing preparations)
- Stool testing for blood should be done for confirmation of blood if it is unclear.
- False positive
- meat
- horseradish
- turnips
- bean sprouts
- broccoli
- cauliflower
- tomatoes
- fresh, red cherries
- grapes
- cantaloupes
- False negative
- vitamin C
- hemoglobin degradation
- storage of specimens
- > 4 days
14
Q
infant GI bleed
A
- Upper
- swallowed maternal blood
- postpartum
- breast-source – if theyre breast feeding, ask about the moms nipples to see if baby is swallowing blood
- reflux esophagitis
- gastric ulcer
- coagulopathy
- swallowed maternal blood
- Lower
- anal fissure
- infectious colitis
- allergic colitis/milk protein intolerance
- swallowed maternal blood
- malrotation with midgut volvulus
- Hirschsprung’s disease
- intestinal duplication
- lymphonodular hyperplasia
15
Q
older child GI bleed
A
- Upper
- Epistaxis
- Mallory-Weiss tear – from vomiting
- Gastritis
- Peptic ulcer
- Duodenitis
- Tonsillitis/sinusitis
- Medicationsesophageal varices
- Coagulopathy
- Tumors
- pulmonary hemorrhage
- Lower
- Infectious colitis
- Henoch-Schönlein purpura
- Meckel’s diverticulum
- Juvenile polyp
- Hemolytic-uremic syndrome
16
Q
swallowed maternal blood
A
- mother’s nipple and areola suffers plenty of trauma in the first few weeks
- long-term cracks can lead to feedings of breast-milk mixed with blood
- often difficult to see directly, often very painful
- Apt test of suspected blood differentiates fetal hemoglobin from maternal hemoglobin
17
Q
acute gastroenteritis
A
- acute inflammation of the GI tract usually due to infectious origin
- very common
- wide spectrum of presentation
- anorexia
- nausea & vomiting
- diarrhea
- fever
- distinguishing bacterial from viral
- Bacterial is more likely with
- presence of blood
- WBC on smear (stool)
- persistent fever
- severe abdominal pain
- risk factors (foreign travel, reptiles, suspect foods, etc.)
- Bacterial is more likely with
18
Q
viral acute gastroenteritis
A
- viruses
- rotavirus
- Norovirus virus
- enteroviruses
- symptoms
- vomiting
- diarrhea
- poor hydration
- mild fever
- interventions for viral gastroenteritis
- treatment
- supportive care, fluid repletion
- refeeding - no specific diet
- agents
- antiemetics
- zinc
- Lactobacillus supplements
- prevention
- handwashing
- general hygienic measures
- contact precautions
- treatment
- if you have a kid who hasn’t been eating for a long time, you need to SLOWLY introduce foods!! You cant just give them a bunch of food all at once
19
Q
bacterial acute gastroenteritis
A
- Common Bacterial Pathogens
- Salmonella
- Shigella
- Campylobacter
- E. Coli
- Yersenic
- Clostridium Difficile
- Community acquirec
- Hospital acquired
- We don’t really treat bacterial diarrhea because in treating them, you cause them to release all of the endotoxins!
20
Q
parasitic causes of AGE
A
- Giardia
- Cryptosporidium
- Cystoisospora Belli
- Mircrosporidia and Cyclospora
21
Q
allergic colitis
A
- clinical features
- healthy-appearing infants
- fussiness
- increased frequency of bowel movements
- blood-tinged stools
- age 1 week to several months (average 60 days)
- diagnosis
- Symptoms- fussiness, blood in stool, emesis
- withdrawal of allergen
- re-challenge
- biopsy (colonoscopy)
- patchy erythema
- loss of vascularity
- eosinophilic abscesses
- Management
- cow’s milk protein eliminated from diet/mother’s diet if breastfeeding
- replacement with protein hydrolysate formula
- Nutramigen
- Alimentum
- Most infants do well with re-introduction of cow’s milk protein after four to five months
22
Q
Meckels diverticulum
A
- Ileal mucosal bleeding caused by heterotopic gastric mucosa (incomplete closure of omphalomesenteric duct)
- acid production leading to ulceration
- painless bleeding
- anemia without many symptoms
- May be associated with intussusception or perforation
- Anemia
- may be profound
- may be occult
- technetium “Meckel’s” scan
- treatment
- surgical excision
- medical
- acid reduction agents
- treat anemia (Fe, erythropoietin, transfusion)
23
Q
Hemolytic uremic syndrome
A
- acute gastroenteritis – severe abdominal pain, may have bloody stool and brown urine.
- E. coli 0157:H7
- shiga-like toxin - attacks endothelial cells/activates immune response
- intravascular coagulation occurs leading to hemolysis
- hemolysis leading to
- anemia
- acute renal failure
- consumption of platelets leads to thrombocytopenia
- Classic Triad of HUS (anemia, uremia, thrombocytopenia)
- Kid comes in with hx of diarrhea 2-3 weeks ago
24
Q
Henoch-schonlein purpura
A
- Clinical presentation
- Nephritis
- Abdominal pain
- Purpura – on lower extremities
- Arthralgias
- Swelling
- This can sometimes be confusing for meningococcal dx – however they don’t have a fever and they look pretty well
- An Autoimmune Vasculitis – can also attack kidneys so you need to check urine
- Complications:
- GI Bleeding
- Intussusception
- Renal failure
25
Q
Anal fissure
A
- most common cause of lower GI bleeding
- most cases secondary to constipation
- may be the result of sexual abuse
- constipation should not create bruising, scarring, anogenital warts or other STDs around the anus
26
Q
inborn errors of metabolism
A
- Broad class of disorders that is the result of an error in a metabolic pathway.
- These errors can be from lack of an enzyme, its cofactors, biochemical transporters, and or buildup of a toxic compound.
- These disorders are very rare.
- IEM screening is included on the newborn screen.
- A negative newborn screen does not rule out disease.
- When to suspect IEM?
- These often present in the newborn period, but depending on the disorder and severity of disease it can present later on in life.
- Times of stress can reveal IEM such as fever and fasting. – this is because the kid is stressed and does not have enough energy to compensate for these issues
- Symptoms are varied and can include:
- Lethargy
- Seizures
- Hypotonia
- Sepsis-like picture
- Vomiting
- Poor feeding
- Hypothermia
- Abdominal distention (hepatomegaly)
- IEM Categories:
- Carbohydrate Metabolism Defects
- Protein Metabolism Defects
- Amino Acidopathies
- Organic Acidopathies
- Urea Cycle Defects
- Fat Metabolism Defects
- Storage Disorders Lysosomal, Peroxisomal, Glycogen
- Mitochondria Disorders
27
Q
Evaluation for IEM
A
- Testing for IEM is complicated and often requires the involvement of medical genetics.
- Newborn screen uses tandem mass spectrometry to look for levels of acylcarnitines and amino acids in the blood.
- Other testing:
- Ammonia
- Glucose
- Plasma Amino Acids
- Urine Organic Acids
- Plasma acylcarnitine and carnitine analysis
28
Q
errors in carbohydrate metabolism
A
- Absence of enzyme to breakdown carbohydrate.
- Causes buildup of the substrate and this buildup becomes toxic and causes pathology.
- Severity of illness depends on what enzyme is affected.
29
Q
galactosemia
A
- Deficiency in galactose-1-phosphate uridyltransferase (GALT)
- Autosomal Recessive
- Presents in neonate following feeding with milk because body is unable to process galactose.
- Symptoms: liver failure, renal abnormalities, cataracts, and learning disabilities
- Often present with E.coli sepsis.
- Treatment based on removal of galactose from the diet.
30
Q
errors in protein metabolism
A
- Proteins are a string of amino acids that are broken down for energy and excess nitrogen needs to be excreted.
- Amino Acidopathies: Result of problem with removing ammonia group from first step of protein metabolism.
- Organic Acidopathies: Result of problem with removing intermediates of protein metabolism (deaminated proteins).
- Urea Cycle Defects: Problems with cycle that allows for ammonia group to be converted to urea for removal from body.
- often occur when kid is sick and can’t process
- Amino Acidopathies: Build up of certain amino acids. No metabolic acidosis or hyperammonemia.
- Organic Acidopathies: Build up of organic acids results in metabolic acidosis. No hyperammonemia. Presentation: lethargy, vomiting, coma, death.
- Urea Cycle Defects: Defect in clearing ammonia. Hyperammonemia, no metabolic acidosis. Presentation: altered metal status, coma, seizure, death
- Treatment for all of these include protein restricted diet.
31
Q
phenylketonuria
A
- Deficiency in phenylanine hydroxylase that prevents metabolism of phenylalanine to tyrosine.
- Phenylalanine and phenylketones builds up in the tissue and causes brain damage, microcephaly, and eczematous rash.
- Treatment includes life long phenylalanine restriction.
- Women with PKU are at risk for PKU syndrome. Phenylalanine is a teratogen.
32
Q
errors in fatty acid metabolism
A
- Fatty acid metabolism is necessary in the body to maintain energy during times of fasting.
- Errors in fatty acid metabolism prevent the body from generating energy from fat stores to perform gluconeogenesis.
- These disorders are classified by the enzyme that is absent. (Enzymes are classified by the length of the fatty acid chain they work on.)
- Medium Chain acyl-CoA dehydrogenase (MCAD)- MOST COMMON
- Short Chain acyl-CoA dehydrogenase (SCAD)
- Long Chain acyl-CoA dehydrogenase (LCAD)
- Very Long Chain acyl-CoA dehydrogenase (VLCAD)
33
Q
Characteristics of FA metabolism
A
- Symptoms appear in infancy or childhood when children have prolonged periods during fasting or increase metabolic stress (fever).
- Labs are significant for hypoketotic hypoglycemia.
- Acylcarnitine Profile: Demonstrates pattern of acylcarnitines that have built up as a result enzyme deficiency.
- Presenting symptoms include:
- Sudden death
- Seizures
- Lethargy
34
Q
MCAD
A
- most common one
- MCAD breaks down medium chain fatty acids to short chain and acetyl Co-A.
- Autosomal Recessive Disorder
- Patients can present as early as day 2 or 3 of life with seizure or sudden death.
- If caught prior to presentation (NBS – newborn screen), fasting states can be avoided and patients would be otherwise neurologically normal.
- Carnitine supplementation is given as well – one of the reasons for. Carnitine supplementation – because you can’t break down fatty acids, you can’t break them down – carnitine is needed to shuttle them into and out of the cell – if you give more, you can move more fatty acids
35
Q
storage disorders
A
- Glycogen- Glycogen is storage form of energy. Disease result of inability of body to metabolize glycogen stores. Patients pre
- Lysosome- Organelles that are responsible for digesting large macromolecules. Defects can be in abnormal lysosome formation, enzyme deficiency, or in mechanisms involved in molecular transport.
- Peroxisome- Organelles that are involved in multiple cellular functions including: biosynthesis of bile acids, membrane phospholipids, and B-oxidation of long-chain fatty acids. Defects in peroxisomal enzyme function and biogenesis.
36
Q
mitochondrial disorders
A
- Mitochondria produce energy for the cell through oxidative phosphorylation. Disorders often affect organs with high energy needs: brain, muscle, and eye.
