GI Flashcards
Polyposis syndromes: Peutz Jeghers
- when children have 5 or more juvenile polyps
- adenomatous polyps
- or family hx of polyposis or early colorectal cancer
Juvenile polyposis: Just polyps in GI tract
- 5 or more polyps = JPS
- referred for genetic testing
- surveillance yrly if polyps present
Peutz Jeghers:
+ freckling of mucocutaneous and hands/feet
polyps that frequently present as intussusception
Gardner: + desmoid tumors, osteoma, dental
Familial adenomatous polyposis: + desmoid tumors, osteoma, dental, hypertrophy of retinal pigment epithelium (eye shit)
ALL are AUTOSOMAL DOM
ALL are associated with certain cancers - need to be followed by Onc
Irritable Bowel syndrome Tx
Tx: peppermint oil
DX: at least 3 days/month in the past 3 months without other etiology. pain may change with stooling pattern and may be relieved by defecation.
Rectal Prolapse - screen for what disease?
CF
Causes of rectal prolapse:
- functional constipation and excessive straining
- chronic diarrhea
- CF (prevalence of rectal prolapse 19%!)
juvenile Colonic Polyps
Juvenile colonic polyps are relative common
Present in 1st decade of life.
Can be associated with bleeding.
If LESS THAN 5 = okay.
If SOLITARY and NO ADENOMATOUS component - then there is no risk for cancer.
Campylobacter
Most are self-limited and do not require tx.
Gram-Neg helical bacteria
Associated with ingestion of contaminated poultry or fecal material from pets, untreated water, unpasturized milk.
BUT treat if immunocompromised, chronically ill, pregnant, severe or prolonged (> 1 wk) sx.
AKA like in CF patients**
Tx:
Azithromycin**
What condition is associated with achalasia?
Adrenal insufficiency!
Triple-A or Allgrove syndrome
- Achalasia
- Adrenal insufficiency
- Alacrima (reduced ability to secrete tears)
- Autonomic dysfxn (abnl sweating, orthostatic hypotension, altered heart rate)
Autoimmune Hepatitis
Type I:
- 10-20 years, females
- ANA and Anti-SM
Type II:
- younger children
- more severe
- anti-liver kidney microsomal Ab is positive
- HYPERgammaglobulinemia
- fever, RUQ pain, jaundice, transaminases, bilirubins, GGT and Alk phos elevated
- Tx: immunosuppression
Hirshsprung on barium enema
Aganglionic segment = Distal narrowed segment
Ganglionic segment = Proximal dilated segment
Pyloric Stenosis
Pyloric Thickness > 4 mm
Overall Pyloric Length of > 18 mm
HypoK HypoCl Met Alkalosis
Test to confirm biliary atresia
Intraoperative Cholangiogram
- if positive, proceed to Kasai procedure
Initial tests:
- Abd US
- HIDA
- Liver Biopsy
DDX of neonatal unconjugated vs conjugated bilirubinemia
Unconjugated - messed up UGT1A1
- Crigler-Najjar
- Gilbert
Conjugated
- Dubin Johnson and Rotor - genetic defects that prevent exportation of bile from hepatocytes to bile
- Biliary atresia
- cystic fibrosis
Hereditary Hemachromatosis
Iron overload disease
- high ferritin and transferrin**
- mutation in the HFE gene - hepcidin expression. Hepcidin is inversely proportional to iron
Sx: fatigue, malaise, abdominal pain, arthralgias, impotence, cardiomyopathy, and development of diabetes secondary to pancreatic overload.
Physical findings include hepatosplenomegaly, bronze discoloration of skin, and arthropathy.
Tx: phlebotomy, chelation with desferrioxamine
Hepatitis A
flu-like symptoms + elevated liver enzymes
from endemic countries usually
EXCLUDED from work/school for 1 wk after symptom onset (shedding of hep A in stool diminishes significantly after 1 wk).
No post exposure prophylaxis
Hepatitis A does not induce a chronic carrier state, nor does it lead to chronic infection.
What is a complication of UC that causes fatigue, pruritis, HSM, and elevated GGT?
Primary Sclerosing Cholangitis
- chronic inflam and fibrosis of intra and/or extra hepatic bile ducts
- MRCP to diagnose
What is preferred diagnostic imaging modality for cholelithiasis, cholecystitis, or choledocholithiasis?
Ultrasound!!!
Cholelithiasis: colicky RUQ pain, shoulder pain, n/v
Cholecystitis: fever, RUQ pain, murphy’s
Choledocholithiasis: jaundice, acholic stools
Cholangitis: jaundice, AMS, shock
The risk for cholelithiasis is highest in children with chronic hemolytic anemia, obesity, or long-term exposure to parenteral nutrition.
Cyclic Vomiting Syndrome
Functional disorder
- episodes of nausea and vomiting that last hours to days with return to baseline health btwn episodes
- 3-7 year olds
Tx: Cyproheptadine in those 5 or younger.
TCAs in those > 5
Hepatitis B Serologies
file:///Users/vicky/Downloads/C245A.pdf
Celiac Disease
Present after introduction of cereal and solids (btwn 6 to 24 months)
IgA antibodies against tissue transglutaminase
Abd pain, diarrhea, or FTT and vomiting
Dental enamel hypoplasia, short stature, dermatitis herpetiformis, recurrent aphthous stomatitis
Iron def anemia (due to malabsorption from villous atrophy), hypoproteinemia
Assoc. with T1DM, Thyroiditis and in Turner, Williams, and Downs
Choledochal cyst - why should they be removed?
Risk of developing cholangiocarcinoma!
Types of Esophagitis
Herpes - ulcerations that can coalesce with normal intervening mucosa (like reactivation when you’re on HD corticosteroids)
Candida - typically demonstrates white mucosal plaque-like lesions.
Eosinophilic esophagitis- multiple ring-like structures and/or small whitish papules representing eosinophilic abscesses.
Medication (pill-induced) esophageal injury - deep, singular ulceration(s) at points of stasis (especially near the carina) with sparing of the distal esophagus.
Barrett esophagus - long segments of columnar epithelium that extend above the esophagogastric junction. Columnar epithelium has a reddish color and velvet-like texture, whereas squamous epithelium has a more pale, glossy appearance. The squamocolumnar junction forms a visible line (the Z-line).
Perinatal HCV - how to detect
NAA for HCV RNA (NOT DNA VIRUS!!!)
IgG is unreliable bc maternal IgG ab for anti-HCV is identified in infants up to 18 mo of age.
Should perform testing at 1-2 mo of age
Hep B vs. Hep A
Hep B - more extrahepatic manifestations like arthralgia, rashes, thrombocytopenia
Both have - fever, general malaise, nausea, anorexia, jaundice, abdominal pain, tender hepatomegaly, and, in up to 10% of cases, splenomegaly.
Gallbladder Hydrops
Gallbladder distension by sterile bile
- can be caused kawasaki!
How to reduce cholestasis risk?
CYCLE THE TPN. Reduces insulin exposure allowing for mobilization of fat and decreased cholestasis
- increasing lipid content, GIR and trace minerals increases the risk of cholestasis.
Hepatitis D needs what coinfection
it can not replicate without a coexisting infections with hepatitis B virus (HBV). Coinfection with HDV is more severe than having HBV alone. This coinfection can progress more rapidly to liver failure and cirrhosis. The diagnosis is confirmed with the presence of anti-HDV antibody.
Celiac is associated with what conditiosn
*trisomy 21* diabetes mellitus Type 1 Williams syndrome Turner syndrome autoimmune thyroiditis selective IgA deficiency
1st and 2nd degree relatives of individuals with celiac disease. Up to 16% of individuals with trisomy 21 have celiac disease.
Celiac intestine biopsy shows
Flattened villi
intraepithelial lymphocytes
Crypts
CF - normal intestine bx, has decreased fecal elastase
Functional Abdominal Pain Syndrome
Pain is usually periumbilical
The Rome III Criteria for the diagnosis of childhood functional abdominal pain syndrome are: 1) Episodic or continuous abdominal pain, 2) Insufficient criteria for other functional gastrointestinal disorders, 3) No evidence of an inflammatory, anatomic, metabolic, or neoplastic process that explains the subject’s symptoms, 4) Criteria fulfilled at least once per week for at least 2 months prior to diagnosis.
SMA syndrome
Loss of fat (such as in anorexia**) that causes the duodenum to be compressed by the SMA and abdominal aorta.
Relief of symptoms when lying prone/left lateral decub/knee chest positions.
Tx: NG or GJ tube past obstruction to allow for formula feeding and wt gain
What is the most common cause of acute fulminant liver failure in US?
Drug hepatotoxicity
What medication should you avoid giving to your child after varicella vaccine?
Salicyclates for at least 6 weeks due to risk of Reye syndrome
PPIs increase the risk of ?
C diff diarrhea
Also:
- increased risk of PNA (reduction in gastric acid allows for pathogens to more easily colonize upper GI with potential to spread to lower resp tract)
- malabsorption of vit B 12, iron, hypomag, ca
Wilsons
Defective mobilization of Cu from lysosomes for excretion into bile.
Elevated URINE Cu** and Cu accumulation in liver, brain, kidney, cornea
Decreased serum ceruloplasmin
Decreased serum cu (due to decreased ceruloplasmin)
Elevated transaminases
TX: D-penicillamine to chelate Cu. + pyroxidine supplmentation.
Genetic Defects
PRSS1 - hereditary pancreatitis (leads to conversion of trypsinogen to trypsin while still in the pancreas rather than intestinal lumen)
NOD2 - crohn’s
A1AT - hereditary liver disease
JAG1 - Alagille syndrome
C diff testing
Stool for C diff toxin (NOT CULTURE as this is unreliable and frequently falsely neg).
