Gastro Flashcards
What are the features of conjugated hyperbilirubinaemia?
prolonged/persistent neonatal jaundice (at >2wks) pale stools dark urine bleeding tendency failure to *liver pathology*
What is biliary atresia?
1/14000
progressive destruction / absence of extrahepatic biliary tree and intrahepatic biliary ducts
-> chronic liver failure + death without surgery
How might biliary atresia present?
mild conjugated jaundice
failure to thrive
hepatomegaly +- splenomegaly
How would you diagnose biliary atresia?
LFTs no help
fasting abdo US: may sho contracted/absent gallbladder
radioisotope scan TIBIDA: good liver uptake no excretion into bowel
liver biopsy: extrahepatic biliary obstruction
confirmation on operative cholangiography at laparotomy: fails to outline a normal biliary tree
How do you manage biliary atresia?
surgical bypass of fibrotic ducts
hepatoportoenterostomy: Kasai procedure - loop of jejenum anastamosed to cut surface of porta hepatis allowing drainage of any remaining patent ductules
surgery before 60 days = 80% success - bile drainage
if unsuccessful: liver transplant
What are complications of the Kasai procedure?
cholangitis
malabsorption of fats and fat soluble vitamins
progression to cirrhosis and portal htn -> liver transplant
What is a choledochal cyst?
cystic dilatations of the extrahepatic biliary system
present in infancy with cholestasis
present in older children with abdo pain, palpable mass, jaundice or cholangitis
How would you diagnose and treat choledochal cysts?
diagnose on US or radionuclide scanning
surgical excision of cyst with a Roux-en-Y anastamosis ot the biliary duct
complications incl: cholangitis
2% risk malignancy in any part of biliary tree
What are the causes of neonatal hepatitis syndrome?
congenital infection alpha1-antitrypsin deficiency galactosaemia tyrosinaemia -T1 CF inborn errors of metabolism errors of bile acid synth PFIC intestinal failure assoc liver disease - assoc with TPN
How do infants with neonatal hepatitis syndrome present?
prolonged neonatal jaundice hepatic inflammation IUGR hepatosplenomegaly at birth giant cell hepatitis on biopsy
What is alpha 1 antitrypsin deficiency?
AR 1/2-4000 Chr 14 protease inhibitor liver disease assoc with PiZZ phenotype estimate level in plasma 50% -> liver disease req transplant emphysema may develop in adult life avoid smoking!!!
What is galactosaemia?
1/40000
poor feeding, vomiting, jaundice + hepatomegaly when fed milk
untreated -> liver failure, cataracts + developmental delay
can be rapidly fatal due to G-ve sepsis -> shock + DIC
screening: galactose in urine
diagnosis: measure galactose-1-phosphate-uridyltransferase in RBCs
galactose free diet prevents progression
ovarian failure and learning difficulties may occur later
What are inborn errors of bile acid synthesis?
neonatal cholestasis + normal GGT
screen for elevated cholenoic bile acids in urine
diagnosed on mass spectrometry of urine for bile acids
treatment = ursodeoxycholic acid
What is Progressive Familial Intrahepatic Cholestasis?
disorders of bile transporter defects caused by recessive mutations in different genes
presents with jaundice, pruritus, diarrhoea, failure to thrive, rickets, liver disease
low GGT#some req transplant
What is Alagille syndrome?
AD
intrahepatic biliary hypoplasia with severe pruritus + failure to thrive
triangular facies, skeletal abnormalities, congenital heart disease, renal tubular disorders, defects in the eye
variable prognosis
50% survive without liver transplant
How does viral hepatitis present?
nausea, vomiting, abdo pain, lethargy, jaundice large tender liver splenomegaly in some elevated liver transaminases coagulation normal
Hep A in children
RNA virus
usually a mild illness
recover clinically and biochemically in 2-4wks
some may develop prolonged cholestatic hepatitis or fulminant hepatitis
chronic liver disease doesn’t occur
diagnosis confirmed by detecting IgM antibidy
no treatment
HNIG prophylaxis or vaccination for close contacts
Heb B in children
DNA virus causes acute and chronic liver disease majority resolve spontaneously perinatal HepB: mostly asymptomatic 90% become chronic carriers older children: 1-2% ->fulminant hepatic failure 5-10% become chronic carriers anti-HBc= acute infection HBsAg= ongoing infection no treatment for acute infection
chronic Hep B in children
30-50% will develop chronic Hep B liver disease
of whom 10% progress to cirrhosis
long term risk = hepatocellular carcinoma
Hep B treatment
poor efficacy
Interferon:
effective for 50% infected horizontally, 30% perinatally
oral antiviral therapy effective in 23%
preventing HepB
antenatal screening of pregnant women: HbsAg
babies with +ve mothers to receive course of hep B vaccination
if mother has HBeAg also give hepBimmunoglobulin
Hep C in children
RNA virus
vertical transmission
rarely causes acute infection
2025% lifetime risk cirrhosis/hepatocellular carcinoma
EBV in children
usually asymptomatic
40% have hepatitis that may become fulminant
Acute liver failure (fulminant hepatitis) in children
development of massive hepatic necrosis loss of liver function \+- hepatic encephalopathy high mortality mostly due to paracetamol OD and viral hepatitis
How does acute liver failure present?
jaundice encephalopathy (irritability, confusion, drowsiness) coagulopahy hypoglycaemia electrolyte disturbance complications incl: cerebral oedema, haemorrhage, sepsis, pancreatitis raised transaminases abnormal coag
What is posseting?
non forceful return
small amounts milk
with return of swallowed air
What is regurgitation?
frequent
non forceful return
large amounts of milk
may indicate GORD
What is gastro-oesophageal reflux?
involuntary passage of gastric contents into the oesophagus
due to inappropriate relaxation of oesophageal sphincter due to functional immaturity
What increases risk of gastro-oesophageal reflux in infants?
mainly fluid diet
horizontal posture
short intra-abdo length of oesophagus
what are common symptoms of gastro-oesophageal reflux in infants?
recurrent regurgitation during 1st year
normal weight gain
otherwise well
spontaneous resolution by 12 months
What are the complications of gastro-oesophageal reflux?
FTT from severe vomiting oesophagitis recurrent pulm aspiration dystonic neck posturing apparent life threatening event
When is severe reflux from gastro-oesophageal reflux seen?
children with cerebral palsy
preterm infants
following surgery for oesophageal atresia/diaphragmatic hernia
With an atypical history of reflux what investigations might be performed?
24hr oesophageal pH monitoring
to quantify degree of acid reflux
24hr impedence monitoring
endoscopy + oesophageal biopsy
How would you manage gastro-oesophageal reflux?
feed thickeners (nestargel, carobel)
30 degree head up prone position after feed
omeprazole or ranitidine
What is a Nissen fundoplication?
reserved for children suffering from complications of gastro-oesophageal reflux refractive
fundus wrapped around intra-abd oesophagus
What is pyloric stenosis?
hypertrophy of the pyloric muscle -> gastric outlet obstruction
2-7 wks
boys 4:1 girls
How does pyloric stenosis present?
vomiting, incr freq and force->projectile ~ 1 month age hunger after vomiting weight loss hypochloraemic metabolic acidosis hyponatraemia, hypokalaemia