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Terms in this set (353)
non-neoplastic wiht epithelial and inflammatory components
disorganized growth of tissue
4 examples of hamartomatous polyps
solitary juvenile polyps
dysplastic polyps with malignant potential
example of adenomatous polyps
familial adenomatous polyps
Juveline polyps occur in ___% of preschool children and account for the majority of all polyps in children
benign inflammatory polyps; typically a pedunculated hamartomata
juvenile polyp presentation
Child 2-10 years old (peak 3-4) with intermittent, painless hematochezia with bowel movements and unremarkable family history
true or false: <3-5 solitary juvenile polyps are not cancer prone
When there are > ____ juvenile polyps, they have a high risk of long-term
Individuals with > 5 juvenile polyps are _____x more likely to develop colorectal cancer
juvenile polyposis coli
polyps throughout the colon
True or false: if you have a family member diagnosed with juvenile polyposis, even having a single juvenile polyp gives you the diagnosis of juvenile polyposis syndrome
Colonoscopy results for juvenile polyps
if single with typical histology, no further assessment.
If 5 or more found, perform colonoscopy eveyr 6-12 months until no polyps are found. Then check every 2 years thereafter if no further polyps develop
If 2-4 polyps, repeat colonoscopy.
peutz=jeghers syndrome, AKA
hereditary intestinal polyposis syndrome
inheritance pattern peutz-jegher
GI hamartomatous polyps and mucocutaneous hyperpigmentation of the lips and gums.
Distribution of hyperpigmentation in peutz-jeghers
lips and buccal mucosa
less commonly, nose, hands, and feet.
occur during infancy/childhood and fade during adolescence.
Most commonly affected GI region for peutz-Jeghers
small bowel > colon > stomach
rarely, polyps of the bronchi and GU tract
peutz-jegher polyps histology
smooth muscle bands within the polyp
Most common presentation of peutz-jegher
intermittent, colicky, abdominal pain with intestinal obstruction from intussusception, GI bleeding, and anemia.
What % of cancers in peutz-jehger develop outside of the colon?
What are the most common sites for cancers in peutz-jeghers?
What % of patients with peutz-jegher develop colon cancer?
remove all large polyps
surveillance endoscopy with recurrent polyp removal
survey for other tumors beginning in patients at 10 years of age or sooner if symptoms develop
screen all 1st degree relatives of pts with peutz-jegher regularly after age
Name 2 PTEN hamartoma tumor syndromes
Bannayan-Riley-Ruvalcaba (BRRS) and Cowden Syndrome (CS)
pigmented penile lesions
hamartomatous intestinal polyps
cafe au lait spots
lipid storage abnormality
defect: PTEN tumor suppressor gene
multiple hamartomas of the skin, mucous membranes, breast, and thyroid.
+ gastric/duodenal/colonic polyps
hyperkeratotic papillomas of the lips and tongue
PTEN tumor suppressor mutation on 10q22-23.
hamartomatous polyps of the intestine and macrocephaly
hamartomatous polyps of the intestine and pigmented penile lesions
hamartomatous polyps, cafe au lait spots, lipomas, lipid-storage abnormality
Where besides the intestine can you see hamartomas of Cowden Syndrome?
hamartomatous polyps of the GI tract with hyperkeratotic papillomas of the lips and tongue
Cowden syndrome has an increased risk of
non-medullary thyroid cancer
hamartomatous polyps and hemihypertrophy, gigantism of the extremities, angiomas, pigmented nevi, and multiple lipomas/hamartomata
mutation of AKT1 gene
defect is NOT inherited
hmartomatous polyps with hemihypertrophy
hamartomatous polys with gigantism of the extremities
hamartomatous polyps with angiomas, pigmented nevi, and multiple lipomas
AKT1 gene mutation in
this harmatomatous condition is not inherited
familial adenomatous polyposis inheritance
familial adenomatous polyposis gene
mutation in APC gene
familial adenomatous polyposis
> 100 GI adenomatous polyps almost always involving the colon
subset of familial adenomatous polyposis.
polyposis of the colon, small bowel, stomach.
soft tissue tumors
congenital hypertrophy of the retinal pigment epithelium
adenomatous polyps and soft tissue tumors with extra teeth
adenomatous polyps with osteomas and congenital hypertrophy of the retinal pigment epithelium
types of soft tissue tumors seen in gardner syndrome
sebaceous and epidermoid cysts
common locations of osteomas in gardner syndrome
skull and mandible
Colon cancer risk in Gardner syndrome
100% if the colon cancer is not removed.
Screening recommendations for gardner syndrome
yearly colonoscopy starting between 10-12 years of age
COX inhibitors to suppress polyp expression (sulindac).
Early colectomy in majority, usually by the time they are young adults to prevent colonic adenocarcinoma
periodic endoscopy of the upper GI tract as well as thyroid testing
Suldinac is used as treatment for
gardner syndrome (suppress polyp expression)
What % of neonates with omphalocele have an associated congenital anomaly?
thoracoabdominal syndrome AKA
pentalogy of Cantrell
defects of the diaphragm, sternum, pericardium, and heart
(seen with oomphalacele)
three associated syndromes with oomphalocele
lower midline syndrome
What % of baies with oomphaloceles have a major chromosomal anomaly?
What % of oomphaloceles rupture in utero and appear like a gastroschesis
midgut volvulus is common in oomphalocele, true or false
Management of oomphalocele
keepy infant warm and hydrated
cover omphalocele wiht plastic wrap and warm, saline-soaked gauze.
IV Abx immediately.
manipulate bowel for good circulation
non-operative if baby is too ill (antiseptics like silver nitrate)
--> skin graft (creates ventral hernia to repair in the future.
OR primary surgical repair
survival of infants with omphalocele
which is more common: gastroschisis or omphalocele?
true or false: both gastroschisis and omphalocele can be associated with midgut volvulus
Management of gastroschisis
plastic wrap with saline-soaked gauze
SURGERY IS MANDATORY AND CANNOT BE DELAYED.
early post-op complications for gastroschisis
long term complications for babies that require bowel resection
short bowel syndrome
poor absorption (may require parenteral nutrition)
congenital heart defects
limb (radial) dysplasia
3 male anorectal disorders
small orifice on the perineum located just anterior to the center of the external orifice
usually close to the scrotum
What anorectal disorder is associated with a "bucket handle" malformation or "black ribbon" structure in their perineum
What % of patients with perineal fistula have other organ abnormalities?
treatment perineal fistula
surgical repair without colostomy
rectum communicates with the lower (bulbar) or upper (prostatic) part of the urethra.
well-defined midline perineal groove and an anal dimple
treatment rectourethral fistual
protective colostomy during the newborn period with complete surgical repair later in life
rectum communicates with the bladder neck
sacrum is frequently absent
bowel function is poort
treatment rectovesical fistula
colostomy in the newborn period with corrective surgery later in life.
Three female anorectal disorders
perineal fistula in girls
small orifice located close to the vulva.
does NOT require colostomy
most common anorectal defect in girls.
rectum opens into the vestibule of the female genitalia immediately outside the hymenal orifice.
sacram and sphincter tone are normal
anal dimple present.
describe the sacrum and sphincter tone in vestibular fistula
treatment vestibular fistula
protective colostomy in the newborn period before definitive surgery
vagina, rectum, and urinary tract meet and fuse as a common chanel
single orifice just behind the clitoris, 1-10cm.
shorter channels have goof sphincter tone.
The longer the defect, the less defined the sacrum and more complex the defect.
abnormally large vagina filled with mucous
seen in persistent cloaca
treatment persistent cloaca
colostomy as a newborn
90% also have urologic abnormalities requiring emergent attention.
in imperforate anus, the rectum is found ~ ____ cm above the perineal skin
sphincter mechanism in anal atresia
true or false: you can always diagnose imperforate anus on newborn exam
treatment imperforate anus
colostomy as a newborn
eventual reparative surgery later
prognosis anal atresia
good with initial colostmy period and eventual reparative surgery
defects associated with higher anatomical defects result in more long-temr dysfunction
children with this disorder have an increased incidence of imperforate anus
normal anal canal and anus
obstruction ~2 cm above the skin level when provider attempts to use a rectal thermometer on the patient.
at least 1 layer of the rectum protrudes through the anus
mucosal rectal prolapse
common in those < 2 years of age because of the flat sacrum and weak pelvic floor muscles
condition most commonly associated with rectal prolapse
top 3 most common conditions associated with rectal prolapse
2. infectious diarrhea
in rectal prolapse, the anus can gauge open for up to ____ after reduction
treatment rectal prolapse
some need rectopexy (rare)
treat the underlying condition
common causes of hemorrhoids
infection spreading to the hemorrhoidal veins
underlying crohn's disease
treatment of hemorrhoids
minimize toilet time
increase fluids and fiber
warm-water sitz baths for symptoms
most common cause of rectal bleeding in children of all ages
most common locations of anal fissures
anterior or posterior anal verge
Anal fissures: when to suspect crohn's disease
if it doesn't heal with stool softeners, warm sitz baths, and generous lubrication to the anal skin.
anal fissures: when to suspect sexual abuse
multiple or signs of genital trauma
common causes of perianal itching
candida overgrowth (after abx)
histamine release from spicy foods/citrus/chocolate
treatment perianal strep
most common cause of lower intestinal obstruction in neonates
in ___% of hirschprung cases, aganglionosis is ilimted to the rectum and sigmoid
What % of hirschprung patients have total colonic involvement?
a small number have small intestinal aganglionosis as well
What is the risk of hirschprung in a sibling of an affected patient?
7% (multifactorial, recessive pattern)
5 conditions associated with hirschprung
this condition is associated with both imperforate anus and hirschprung disease
bardet-biedl is associated with what GI condition
smith-lemli-opitz syndrome is associated with what GI disorder
Waardenburg syndrome is associated with what GI disorder
pathogenesis of hirschprung
neural crest cells fail to migrate from craniocaufal region to the distal intestion between 5th and 12th week of gestation.
The earlier the arrest of migration, the longer the involved segment.
loss of the normal innervation--> overexpression of extrinsic parasympathetic and sympathetic nerves in the lamina propria and muscularis mucosa--> constant contraction of the aganglionic segmenet, internal sphincter, and anal canal--> obstructive symptoms.
two common presentations of hirschprung disease
1. perinatally with intestinal obstruction
2. 1 month of age iwht enterocolitis
what % of normal, full-term infants pass meconium within 24 hours
What % of normal, full tern infants pass meconium within 48 hours
What % of children with Hirschprung disease fail to pass meconium within the first 24 hours?
Evaluate for hirschprung disease in any term infant who does not pass meconium within ___ of birth
most severe complication of HIrschprung disease
neonate 2-4 weeks old with fever and explosive, foul-smelling stools, bloody diarrhea and dilated loops of bowel with air-fluid levels
prognosis for hirschprung enterocolitis
poor; mortality rate can be as high as 33%
true or false: hirschprung enterocolitis can occur even after surgical correction
diagnose hirschprung with
rectal suction bx that shows absence of any ganglion cells detected in a biopsy containing adequate submucosa
if questionable rectal suction bx results-->
full thickness rectal biopsy to look for aganglionosis in the submucosal and myenteric plexuses.
failure of the internal anal sphincter to relax in response to distention of the rectum on anorectal manometry
diagnostic of Hirschprung's
treatment of hirschprung
surgery with resection of aganglionic bowel and reanastomosis of the proximal normal bowel to the anal canal.
immediate complications following hirschprung repair
leakage at the anastomotic site
true or false: long term dysfunction is rare following hirschprung repair
false; many have ongoing issues with incontinence, enterocolitis may still occur.
treatment of hirschprung enterocolitis
broad spectrum Abx
warm saline rectal washouts
proximal colostomy when stable.
What % of the pancreatic functional reserve must be lost before pancreatic insufficiency develops?
most common cause of pancreatic insufficiency in children
2nd most common inherited cause of exocrine pancreatic insufficiency in children
shwachman diamond inheritance pattern
describe pancreatic issues with schwachman diamond
acinar cell hypolasia with intact function of the pancreatic ducts
exocrine pancreas insufficiency
about 1/3 of boys affected by schwachman-diamond develop
common causes of acute pancreatitis
blunt abdominal trauma
less common causes of pancreatitis
congenital anomalies (annular pancreas)
mumps and other viruses
drugs that can cause pancreatitis
hemorrhagic bluish patchy discoloration around/near the umbilicus
sign of acute hemorrhagic pancreatitis
Grey Turner sign
hemorrhagic blush patchy discoloration of the flanks from retroperitoneal hemorrhage
sign of acute hemorrhagic pancreatitis
acute hemorrhagic pancreatitis
rare in children, but life threatening.
acutely ill, vomiting and abdominal pain, high fever and shock.
Cullen and grey turner sign.
prognosis of acute hemorrhagic pancreatitis
pancreas becomes necrotic. Without therapy, transforms into an inflammatory hemorrhagic mass. Mortality rate > 50%
best imaging for pancreatitis in children
US abdomen wiht peripancreatic fluid or an increase in pancreatic size
could also show gallstones, choledochal cysts, abscesses, pseudocysts.
CT for pancreatitis
reserved for cases US cannot delineate well
When may ERCP be helpful for pancreatitis
bile duct stone
sphincter of oddi dysfunction
other anatomic biliary causes
treatment of pancreatitis
IVF at 1.5 x maintenance; preferably LR
Pain meds (morphine, fentanyl, hydropmorphine)
follow eelctrolytes, manage third spacing but resist urge for diuretics because still intravascularly dry.
NG suction for persistent vomiting
feed as soon as interested.
antibiotics NOT recommended, even in necrotizing cases.
typically resolve spontaneously. Rarely require surgical or endoscopic drainage in conjunction with LT antibiotics.
nearly 80% present before 20 years of age. Mean age of onset is 11 years.
gene for most hereditary pancreatitis
PRSS1 (trypsinogen, makes it hypersensitive to activation)
frequency and severity of episodes in patients with hereditary pancreatitis tend to ____ as the child ages
treatment chronic pancreatitis
pancreatic enzyme replacement therapy
pancreatic insufficency occurs in ____% of chronic pancreatitis cases
DM occurs in __% of hereditary pancreatitis patients
patients with chronic pancreatitis are at increased risk for what type of cancer?
adenocarcinoma of the pancreas
congenital anomalies of the portal vein are frequently associated with
cardiac and urinary symptom abnormalities
portal vein thrombosis etiologies
UV cather in newborn
protein C, protein S, and antithrombin III deficiencies
20% of infants with extrahepatic biliary atresia have
other associated anomalies:
most commonly affected group for choledocal cysts
presenation of choledochal cysts
nearly 40% by age 1 (35% between 1 and 6 years)
abdominal pain, jaundice, RUQ mass in 25%
ultrasound with intrahepatic and extrahepatic biliary tree dilatation
treatment choledochal cysts
early removal of the cysts and gallbladder with reconstructive surgery
prognosis choledochal cysts
even after surgical correction, high incidence of biliary malignancy (17.5%) most are cholangiocarcinomata
congenital absence of the gallbladder is rare but may be assocaited with
extrahepatic biliary atresia
bicuspid aortic valve
hypoplasic gallbladders are more common in patients with
what trisomy is associated with hypopplastic gallbladder
5% of population
lacks a peritoneal coat--> suspended and pendulous--> more susceptible to torsion
congenital hepatic fibrosis usually occurs with
AR polycystic kidney disease
dilated bile duct structures and portal tracts without interlobular ducst in the center
congenital hepatic fibrosis
when do children with congenital hepatic fibrosis get portal hypertension (presenting as hematemesis/melana from espophageal varices)
5-13 eyars of age
liver transaminases in congenital hepatic fibrosis
often normal, may be mildly elevated
greatest concern and prime cause of mortality in congenital hepatic fibrosis
treamtent congenital hepatic fibrosis
portosystemic shunting for portal hypertension
antibiotics for cholangitis
liver transplant if chronic cholangitis or progressive hepatic dysfunction
some with isolated fibrosis do well and don't require specific therapy
due to congenital dilatation of the larger, segmental intrahepatic bile ducts
carolii disease + congenital hepatic dibrosis
inheritance pattern caroli disease
presentation acroli disease
recurrent cholangitis and abscesses
liver bx with hepatic fibrosis
imaging with dilatation of the hepatic bile ducts and enlargement of the major intra- and extrahepatic biliary passages
treatment caroli disease
abx aimed at cholangitis
if confied to 1 lobe--> hemicolectomy.
complications of caroli disease
alagille syndrome AKA
syndromic duct paucity
alagille syndrome inheritance
AD variable penetrance
gene for alagille syndrome
JAG1 on chromosome 20p
peripheral pulmonary stenosis
vascular anomalies (inculding intracranial)
occasionally ToF, and neonatal cholestasis
chronic cholestatic liver disease with paucity of small intrahepatic ducts
posterior embryotoxon of hte eye
prominent white ring of schwalbe and iris strans that partially obscure the chamber angle
posterior embryotoxon of the eye
think alagille syndrome
facies of alagille syndrome
small, pointed chin
saddle or straight nose
liver bx alagille syndrome
reduced number of small bile ducts
giant cell transformation of hepatocytes may be present
prognosis of alagille syndrome
cholestasis typically imrpves over the 1st year of life and don't develop cirrhosis
some infants have more severe, sometimes progressive, liver disease.
overall mortality approaches 25% (typically due to cardiac disease, infection, progresisve liver disease)
true or false: alagille kids need a kasai
children with alagille are particularly prone to
significant intracranial bleeding, even with minor head trauma, regardless of liver function without a noticeable coagulopathy.
when do kids with alagille get liver transplants
severe growth failure
intolerable itching unresponsible to medical therapy
most common causes of hepatic injuries
main cause of mortality from blunt hepatic trauma
2/2 injuries of the posterolateral aspect of the right lobe of the liver, involving the hepatic veins.
true or false: no transplacental transmission of HAV
What is the chance of fulminant hepatitis with HAV?
what groups should receive prophylaxis following hep A exposure?
all household contacts
day care and nursing home attendees and staff in close contact with a case
school, hospital, or workplace day-to-day contacts do NOT need prophylaxis
HAV prophyalxis choices
hepA vaccine or IG ASAP, preferably within 2 weeks of exposure.
use hepA vaccine in those 12 months and older and IG in those under 12 months
what is the only hepatitis virus that IG is effective post-exposure ppx for?
high risk populations for HAV infection or complications
high risk sexual behaviors or IVDU
children > 2 years in communities with high rates
chronic liver disease
travel to high-risk countries
patients with hep B or C
what is the only hepatitis virus that is DNA
prodromal symptoms of hep B
serum sickness like with fever, arthritis, urticaria, and angioedema
appears early in the disease and then persists for life, so is the most reliable marker for previous exposure to hep B
most reliable marker for previous exposure to HBV
marker of actively replicating virus and occurs with infectivity and liver inflammation
HBV "window period"
pts with acute HBV infection who do not go on to develop chronic disease:
after HBsAg becomes undertectable, there is a period of several weeks before the anti-HBs ab becomes detectable.
MUST get anti-Hbc IgM during this time to confirm acute hep B
HBIG role in ppx/treatment
decreases severity of illness, but doesn't seme to protect the patient from disease.
only effective if given within 24 hours of exposure if there is no history of vaccination in the past.
What is the risk of transmission of hep B from a mother with positive tires
what do you do if someone has a possible blood exposure to a person with an acute HBV infection and HBsAg is still negative
give HBIG then complete course of hep B vaccine
after resolution of hep B symptoms, check for
loss of HBsAg and HBV DNA to ensure no chronic disease
this virus is strongly associated wtih polyarteritis nodisa
true or false: chronic hepatitis B is not considered an indication for transplant
most common bloodborne disease in the US
risk factors for Hep C
high risk sexual behaviors
blood transfusions/organ transplant before 1992
tattoos and piercings
infants born to HCV infected mothers
What % of HCV acute infections are symptomatic?
Extrahepatic diseases associated with HCV
small vessel vasculitis with glomerulonephritis and neuropathy
porphyria cutanea tarda
porphyria cuteana tarda is assocaited with
What % of HCV patients develop hepatocellular carcinoma each year?
if positive anti-HCV, next best step
confirm with immunoblot assay to exclude false-positive
check for active virus with viral load
2-4 months later, check for loss of HCV-RNA to ensure it hasn't become chronic
HCV treatment options
ledipasvir and sofosbuvir
cure rates as high as 95% but extremely expencive
Interaction of hep D with hep B
doesn't make an acute infeciton much worse, but can increase the risk for a carrier to develop severe, fulminant, and develop chronic case.
immunity to hep B implies immunity to
HIGH RISK for fulminant heptitis in the 3rd trimester with a 20% maternal fatality rate.
where is hep E found
often associated with contaminated water supplies after monsoon flooding
treatment acute EBV
counsel to avoid contact sports if splenomegaly is present
short course of prednisone if severe liver dysfunction
cytoplasmic inclusions in the biliary epithelium and hepatocytes is pathognomonic for
screening test for hep A
screening test for hep B
HBsAg, IgM HBc
screening test for hep C
mutation in UGT1A1 or its promoter that results in a mild indirect hyperbilirubinemia, usually < 5
no associated hemolysis or hepatocellular damage.
apparent in times of stress with mild jaundice.
no treatment, morbidity, or mortality
infants with this diagnosis may go on to have gilbert syndrome later in life
breast milk jaundice or prolonged physiologic jaundice
crigler-najjar type II
partial activity (markedly reducued) of UGT. Hyperbilirubinemia < 10
resolves with phenobarbital and other inducers of Cytochrome P450
does nor require specific therapy and does not result in increased morbidity and mortality
why is phenobarbital not recommended for long-term therapy for hyperbili?
neurodevelopmental complications with LT use
crigler najjar type I
complete absence of UGT activity
severe indirect hyperbilirubinemia requiring phototherapy and/or exchange transfustions.
kernicterus is a major concern.
liver transplant can be curative
DNA testing confirms
Dubin johnson has what kind of hyper bili
gilbert has what type of hyperbili
conjugated hyperbili due to gene defect that encodes the canalicular transporter of conjugated bilirubin
mild buli of 3-8
NO hepatocellular injury,
does not require specific therapy, no increased morbidity or mortality
suspect this diagnosis in any child with chronic liver disease
alpha-1 antitrypsin disease
3 alleles of alpha1-antitrypsin diease
M: normal allele
S: mildly low alpha1-antitrypsin
z: severely low alpha1-antitrypsin
ZZ alpha1-antitrypsin disease
both lung and liver involvement
MS or MZ alpha1-antitrypsin disease
increased chance of lung and liver disease, especially with environmental exposures (smoking, alcohol)
presentation of alpha1-antitrypsin disease
chronic hepatitis or HCC
cholestatic jaundice in 10-15% of infants who are homozygous for deficiency
nearly 50% of infants who are homozygous have abnormal liver tests
giant cell hepatitis is the classic histologic finding in neonates with
periodic acid-schiff postiive staining of the liver is characteristics in patents > 12 weeks old with
treament alpha1-antitrypsin disease
fat-soluble vitamin supplements
formula with MCT oil
prognosis neonatal alpha1-antitrypsin disease
most with liver disease improve by 4 months of age and remain healthy throughout childhood. A few present later in life with cirrhosis or HCC.
if liver failure--> transplant is curative
wilson disease inheritance
where does copper accumulate in wilson disease
copper deposits in the inner lining of the descemet membrane in wilson disease
hepatic disease + neurologic/psychiatric dysfunction
suspect this disorder in children with unexplained acute/chronic liver disease, neurologic symptoms of unexplained origin, acute hemolysis, psych illness, behavioral change, fanconi syndrome, or unexplained bone disease.
patients with this liver disease often present with hemolytic anemia
best screening test for wilson disease
ceruloplasmin (will be low; but can be falsely normal or elevated as it is an acute phase reactant)
best test to confirm wilson disease
24H urine copper (also good for monitoring)
often up to 1000 ug/day (normal < 40)
if after urinary copper you still aren't certain of a wilson disease diagnosis, best next step
give D-penicillamine (increases urinary excretion of copper to up to 2000 ug/day in wilson diseae)
gold standard for wilson disease diagosis
liver bx with markedly elevated hepatic copepr
if you diagnose wilson disease, remember to
screen family members with ceruloplasmin and 24-H urinary copper excretion. if abnormal--> liver bx
treatment wilson disease
copper chelating agents (d-penicillamine)
hepatic and neurologic fxns will improve and Kayser-Fleischer rings will disappear.
next step if wilson disease cannot tolerate D-penicillamine
limit intake of copper to < 1 mg/day
what types of foods should be avoided in wilson disease
If elevated copper in local water supply in patient with wilson disease, suggest
in screen siblings of wilson disease who are symptomatic but positive for the disease,
implement penicillamine therapy
hemochromatosis results in iron deposition in the
other endocrine organs
three forms of hemochromatosis
gene affected in hereditary hemochromatosis
HFE gene (variable expression)
adults develop cirrhosis, bronzing of the skin, and DM
what to do if your patient has a family member with hereditary hemochromatosis
periodic phlebotomy (usually not necessary until adolescence) weekly until ferritin level is decreased
transfusion induced hemosiderosis most commonly happens iwth
pts with congenital or acquired anemias.
monitor and treat with chelation therapy (deferoxamine)
most common identified cause of acute liver failure in the neonate
likely pathophys of neonatal hemochromatosis
severe fetal liver damage likely caused by maternal alloimmunity and is associated with hepatic and extra hepatic deposition of iron
mortality of neonatal hemochromatosis
liver failure within hours of life (hypoglycemia, coagulopathy, edema)
treatment neonatal hemochromatosis
progressive familial intrahepatic cholestasis
group of inherited disorders in which bile is not formed properly
progressive familial intrahepatic cholesstasis AKA
Progressive familial intrahepatic cholestasis 1 presentation
presents between 3-6 months of age
conjugated hyperbilirubinemia with severe, unremitting pruritis and a NORMAL GGT
what subsets of PFIC have a normal GGT ?
PFIC1 (Byler disease)
what subset of PFIC has an elevated GGT?
PFIC1 gene mutation
FIC1 on chromosome 18
common long term issues with PFIC1
ADEK deficiencies due to lack of bile salts to facilitate absorption
persistent diarrea, fat malabsorption, weight loss
cirrhosis develops in early childhood and requires transplant
true or false: after liver transplant, patients with PFIC1 still have bouts of diarrhea and pancreatitis
PFIC2 gene defect
FIC2 on chromosome 2 (bile salte export pump)
what PFIC does not have pancreatitis or diarrhea but does have prominent liver disease with normal GGT?
PFIC2 is most commonly seen in
middle eastern europeans
cholesasis with an elevated GGT
jaundice is less prominent than 1 and 2, but the pruritis is still severe
aggresssive with progression to hepatic failure within the 1st few years of life.
acute liver disease with hyperammonemic encephalopathy
associated with aspirin use in children with an intercurrent viral infection (flu, varicella)
what 2 viruses are commonly associated with reye syndrome
vomiting followed by AST/ALT elevation
elevated PT and ammonia
prognosis of reye syndrome is based on
neurologic findings (hepatic findings frequently resolve over several days)
treatment of Reye syndrome
correct metabolic abnormalities
minimize intracranial HTN
most specialists now believe that Reye syndrome probably represented the effect of aspirin use on patients with an underlying
metabolic disorder (such as a fatty acid oxidation defect)
most common cause of acute liver failure in the US
why does N-acetylcysteine help with acetaminophen poisoning
replenishes glutathione stores and allows the liver to metabolize acetaminophen without generating toxic metabolies
What medication is assocaited with hepatic vein thrombosis (Budd-chiari syndrome)?
What medication is associated with liver adenomas
autoimmune hepatitis common comorbidities
primary biliary cirrhosis
primary sclerosing cholangitis
Autoimmune hepatitis in children vs. adults
tends to present with greater severity in children compared wtih adults, and > 50% have cirrhosis at initial diagnosis
type I autoimmune hepatitis
females > males between 102- eyaers and 45-70 years
+ ASMA and/or ANA
type II autoimmune hepatitis
anitbodies to liver-kidney microsomal 1 (anti-LKM-1) and/or liver cytosol antigen (ALC-1)
more severe liver disease than those in type 1
in AIH, always look for a family history of
diagnosis of AIH depends on
serum antibody markers in the face of elevated aminotransferases wtih an elevated total protein (due to hypergammaglobulinemia)
if AIH present, evaluate for
viral hepatitis (esp hep C, which can elevate ANA or LKM antibodies).
liver bx with portal lymphoplasmacytic infiltrates that can extend to the surrounding hepatic lobule
treatment autoimmune hepatitis
azathioprine or 6-MP
liver transplant in refractory cases
primary sclerosing cholangitis
chronic fibrosing inflammation fo the intra- and extrahepatic bile duct due to unknown etiology
causes of secondary sclerosing cholangitis
toxin-induced bile duct injury
langerhans cell histiocytosis
primary sclerosing cholangitis is assocaited with
IBD (esp UC)
and ANCA vasculitis
clinical presentation primary sclerosing cholangitis
abdominal discomfort with itching
what may be the first clues in a child with PSC?
cirrhosis and portal HTN
always consider ____ in any child with IBD if there is evidence of hepatobiliary dysfunction (Jaundice, elevated LFTs)
primary sclerosing cholangitis
lab tests for primary sclerosing cholangitis
elevated alk phos and GGT
low anti-smooth muscle or anti-LKM antibodies may be present
best test to confirm primary sclerosing cholangitis
ERCP, which shows alternating normal strictures along with dilated portions of the biliary tree ("beading")
beading of the biliary tree (alternating strictures and dilated portions) on ERCP
primary sclerosing cholangitis
histology with "onion skin lesion" of biliary tree is rare to see but is pathognomonic for
management of biliary strictures and supportive care for chronic liver disease if present
liver transplant if cirrhosis with portal HTn has occurred.
most common reason for pediatric liver transplantation in the US
physiologic process of biliary atresia
destruction of bile ducts (extra--> intrahepatic) which in turn results in fibrosis, biliary cirrhosis, and eventual liver failure
cholestatic jaundice that appears during the 2nd or 3rd week of life with acholic stools and dark urine
RUQ US in biliary atresia
lack of gallbladder
testing for biliary atresia
US: absent gallbladder
HIDA scan to determine if any tracer is excreted from the biliary tree into the small intestine
liver biopsy for ductular proliferation, bile plugs, and portal fibrosis
if all positive--> intraoperative cholangiogram. If this is positive, immediate kasai portoenterostomy
uses a piece of intestine as a drainage conduit for the liver, bypassing the malformed bile ducts.
kasai must be done before
2 months of age
a successful Kasai procedure can delayt he need for liver transplantation for ________
Prognosis biliary atresia
if bile flow is not reestablished and jaundice never
complications following kasai
risk for ascending cholangitis and must be followed carefully for sings of fever and worsening jaundice.
if a pt with biliary atresia presents with fever and rising bilirubin, assume they have ____ and do what for treatment?
admit for blood cultures and empiric antibiotics. (zosyn)
asymptomatic gallstones treatment
periodic clinica and US surveillance
pathophys of biliary colic
digestive system's demand for bile--> gallstone transiently obstructs the cystic duct from the gallbladder or the CBD.
especially common a few hours after fatty meals
factors that can predispose to gallstones
hemolytic disease (sickle cell!)
short bowel syndrome
most common complication in children with cholelithiasis
pancreatitis due to stone in CBD (choledocholithiasis)
best initial imaging study for gallstones
when is cholecystectomy recommended in regard to gallstones?
low gallbladder ejection fraction on a HIDA scan is diagnostic for
bacterial inflammation of the gallbladder
RUQ pain, tenderness, murphy sign
HIDA scan in acute cholecystitis
poor or no visualization in the presence of an inflamed gallbladder
cholecystectomy if calculous
can be acute (<1 month) or chronic.
2/2 gallbladder stasis or ischemia.
no visitble stones.
most common causes of acalculous cholecystitis
life threatening illness
hydrops of the gallbladder
acute noncalculous, noninflammatory enlargement of the gallblader
5 conditions that can cause gallbladder hydrops
treatment of acute gallbladder hydrops
rarely requires cholecystectomy
(treat underlying condition)
most common lcoation for tumors of the liver and biliary tree
right lobe of the liver
examples of common benign tumors of the liver
focal nodular hyperplasia
most common malignant liver tumor in children
hepatoblastoma most commonly presents by age
increased risk of hepatoblastoma in
what level is markedly elevated in hepatoblastoma
treatment and survival rates of hepatoblastoma
50% with complete resection and post-op chemo
liver transplant can be used successfully when complete resection cannot be done.
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