GI and Nutrition Flashcards
FAP = Familial Adenomatous polyposis
numerous (>100) adenomatous polyps in intestines. Risk colorectal cancer, hepatoblastoma, medulloblastoma. Epidermoid cysts.
8-year-old girl who has hyperpigmented macules in her mouth and a history of GI bleeds. Her dad and brother have something similar. What type of cancer is she at risk for?
Peutz Jeghers syndrome
- mucocutaneous hyperpigmented macules + GI polyps (benign, in small intestine, can have bleeding/intuss)
- inherited cancer syndrome AD for colorectal ca
- annual upper and lower endoscopy by age 8 or if symptoms
- polyps present while young
button battery ingestion
if < 12 hr, can do honey or sucralfate
emergent removal within 2 hr if esophageal or gastric (<5 yr and >20mm)
GI Complications of CF
- exocrine pancreatic insufficiency
- pancreatitis
- CF related diabetes d/t damage to pancreas
- meconium ileus in younger pt
- distal intestinal obstructive syndrome (DIOS) in older pt (obstruction, RLQ pain and palpable mass)
FPIES
- diagnosis gold standard: oral food challenge by allergist
- Age 2-7 mos with intro solids or formula
- Milk, soy, rice, oat egg (classic is rice)
- sx: profuse vomiting, pallor and/or lethargy, diarrhea (no resp or rash sx) very severe vomiting
- may need anti-emetic and IV fluids d/t dehydration
- eliminate trigger food
- no need to eliminate from maternal diet
- refer to allergist
- oral food challenge can be done to see if they’ve outgrown (usually by age 3-5 yrs) - try 12-18. mo later
- don’t need stool tests, imaging or endoscopy
- no epi pen needed
Infant Dyschezia
ROME criteria
- < 9 mo
- straining prior to defecation with crying, facial discoloration for >10 mins before successful or unsuccessful passage of stool
- no other health problems
- NOT constipation
Reassurance
Rumination disorder
- repeated regurgitation of food 1+ month
- often daily, not in sleep
- usually presents at 3- 12 mo
- treatment behavioural and gum chewing
how many ml in oz
1 oz = 30 ml
formula is 20cal/ oz or 0.67 cal/mil
NAFLD
- chronic hepatic steatosis
- start screening in age 9-11 for all obese children or overweight with other obesity risk problems (Ex. diabetes, OSA). Screen q2-3 yr
- screen with ALT (>2x ULN for >3m)
- liver US is not used for NAFLD - you would need elastography
don’t do US
management
- counsel on diet and exercise
- rpt labs q1-6 mo
- r/o other liver problems if symptomatic or red flags
Pediatric acute liver failure
INR >1.5 not correcting with vitamin K and encephalopathy OR >2 without encephalopathy
with signs of liver damage, no chronic liver problem
hepatoblastoma associated geentic conditions
beckwith wiedemann or other hemiphyperplasia or overgrowth syndromes
screen with AFP
AXR and AUS
celiac long term complication
lymphoma
EoE diagnosis
EGD and biopsy (>15 eosinophils per HPF or signs of eosinophilic inflammtion
don’t need PPI response for diagnosis
Management
- dietary management (2-6 food elimination)
- PPI can be used for symptoms
- swallowed steroids x 6-8 weeks
H pylori
- don’t do urea breath test if you think theres an ulcer from h pylori
Diagnosis
- upper endoscopy with biopsy (2 weeks post PPI, 4 weeks post abx)
Oral rehydration therapy
15 min to 30 min after administration of oral ondansetron.
Mild: ORS 50ml/kg over 4h
Mod: ORS 100ml/kg over 4h
Severe: IV 20-40ml/kg x1h
Galactossemia
What is it: inability to convert galactose into glucose (missing GALT enzyme), and this causes galactose to build up in the body ( brain, liver and other tissues)
Inheritance pattern: AR
Age of Onset: first few DOL/ within a few days of starting formula (may be delayed by soy formula use)
Presentation: jaundice, vomiting,diarrhea, hepatomegaly, poor feeding, lethargy, E.coli sepsis, cataracts
Labs: hypoglycemia, increased plasma galactose, hyperbilirubinemia, abnormal LFTs, metabolic acidosis, glycosuria, hemolytic anemia
Dx: SHOULD BE PICKED UP ON NMS, , elevated galactose, reduced GALT enzyme activity, increased plasma amino acids and molecular genetic testing
Tx: immediate removal of galactose (all dairy) while you do confirmatory testing
Outcomes: if not treated (with dietary modification) then liver failure, sepsis, and neonatal death, despite treatment- there is an increased risk of DD, speech problems and abnormalities of motor function. Almost all females will have premature ovarian insufficiency
Crohn’s
Crohns
“Gum to Bum”
Abdominal Pain
Diarrhea
Perianal disease
Weight loss, growth failure
Involves any part of GI tract
Skip lesions
Rectal Sparing
Fistula, Abscess, Stricture
Linear ulcers
Transmural involvement
protein losing enteropathy diagnosis
stool A1AT
Ulcerative Colitis
Rectal bleeding
Bloody diarrhea
Abdominal pain
NO perianal disease
Risk for toxic megacolon
Colon only
Continuous (Paintbrush)
No rectal sparing
No fistula, abscess, stricture
Inflammation limited to mucosa
No granulomas or Crypts
risk of primary sclerosis cholangitis
short stature, neutropenia, bone marrow failure, pancreatic insuff
schwachman diamond syndrome
high a1at in the stool
protein losing enteropathy
high fecal elastase
pancreatic insufficiency
- CF
- Schwachman diamond
- chronic pancreatitis
most common cause of low weight and poor growth in IBD
poor nutritional intake
genetic mutation of the polyposis syndromes
autosomal dominant
peutz jaghers syndrome associated condition
Hereditary Hemorrhagic Telangectasia - look for telangectasias
inherited colorectal ca syndromes
FAP = Familial Adenomatous polyposis- numerous (>100) adenomatous polyps in intestines. HIGH risk colorectal cancer, hepatoblastoma, medulloblastoma, glioblastoma, Epidermoid cysts.
PJS = Peutz Jeghers syndrome: mucocutaneous hyperpigmented macules + GI polyps
JPS= Juvenile polyposis syndrome - polyps, liver AVMs
Cowden syndrome- hamartomas and malignancies of breast, thyroid, uterus, GI, kidney, skin
HDGC- Hereditary diffuse gastric cancer
Hereditary PDAC- Familial pancreatic duct adenocarcinoma
8-year-old girl who has hyperpigmented macules in her mouth and a history of GI bleeds. Her dad and brother have something similar. What type of cancer is she at risk for?
colorectal cancer
Peutz jeghers syndrome
pediatric acute liver failure criteria
- no history of chronic liver disease
- biochemical evidence of acute liver injury
- hepatic based coagulopathy
- encephalopathic: INR >1.5
- no encephalopathy: INR >2
* INR not corrected by Vit K
King’s College criteria for liver transplant
Tylenol
- pH<7.3
OR
- INR >6.5 AND Cr >300 AND Gr 3-4 encephalopathy
Other
- INR > 6.5
OR
- 3 of the following:
- age < 10 or >40
- bili > 300
- INR > 3
- duration jaundice to encephalopathy > 7 days
- etiology non hepatitis A/B or idiosyncratic drug rxn
eye finding in alagille
posterior embryotoxin
most common presentation A1AT deficiency
jaundice (often in first 1-2 mo)
lliver problems happen first, lung disease happens over time
often neonatal cholestasis improves by 6-8 mo, only small % go on to cirrhosis
wilson disease genetics
autosomal recessive
DAT neg hemolytiv anemia, Fanconi RTA, and elevated AST
wilson’s disease
low serum ceruloplasmin
wilsons disease
conditions associated with celiac
T1D
IgA deficiency
down syndrome
Turner syndrome
Williams syndrome
other autoimmune disorder
first degree family hx with celiac
dermatitis herpetiformis
rash in celiac
diagnosis celiac
positive blood work is screen
needs biopsies
celiac screening in age <2yo
need to check DGP, TTG-IgA doesnt work well in <2yo
differential terminal ileitis
crohns
lymphoma
yersinia
tuberculosis
CGD
eosinophilic gastrointestinal disease
*normal finding: lymphonodular hyperplasia
differential organic constipation
hypothyroidism
celiac
lead poisoning
medications
cystic fibrosis - esp chemo
CNS: hirshprung, CP, neural tube defects
electrolytes: HYPERcalcemia, HYPOkalemia
Idiopathic
treatment infant GERD
dietary modification first line for 2-4 weeks
then hydrolyed formula
then PPI
*ranitidine can be used if PPIs not available
first line treatment for pinworms
mebendazole or albendazole
bloody infectious diarrhea
salmonella (usually bloody)
Yersinia (usually)
shigella
campy
e.coli
colic criteria
episodes lasting >3 hr per day for 3 days per week for >1 week
treatment infant ruimnation
frequent holding and social interaction
cyclic vomiting syndrome diagnosis
2+ episodes of nausea and hyperemesis in past 6 mo
stereotypical episodes
return to usual state of health in between
not attributable to other conditions
*often fam hx of migraine
iritable bowel syndrome diagnosis
abdo pain > 4 times per month with > 1 of the following symptoms:
- timing related to defecation
- change in frequency of stool
- change in form of stool
*if patient experiences constipation, treat the constipation. if pain persists, then it is IBS-C
functional abdo pain
occurs at least 4 times per mo
episodic or continuous pain
doesnt meet criteria for other functional
Differential of hepatomegaly
- hepatitis (inflammatory)
- storage disorders (GSD, A1AT, hemochromatosis)
- infiltrative (benign vs malignant tumors, mets)
- biliary obstruction
- posthepatic obstruction (cardiac, thrombus, intrahepatic)
gilbert syndrome
autosomal dominant
genetic defect in glucuronyl transferase (unable to conjugate bili)
50% of persistent unconjugated hyperbilirubinemia in infants
most common indication for liver transplant in children
biliary atresia
timing for treatment hepatitis B at risk infant with positive mom
both HepB vaccine and HepB IG given within 12 hours
Meckel’s rule of 2’s
2% of population
2:1 male to female
2 ft from IC valve
2% develop bleeding
<2yo most common age
2 types of mucosa in diverticulum: native + hypertopic gastric/pancreatic/colonic
