GIT & LIVER DISORDERS Flashcards
Common presentation of abd pathologies
Diarrhea
Vomiting
Abd Pain
Malnutrition
Common presentation of hepatic pathologies
Distension
Jaundice
Itching
Ascites
Most common GI related causes of vomiting in neonates and infants
Overfeeding
How to find if overfeeding is the cause of vomiting
Plot the weight on a chart
Presentation of tracheo- esophageal Fistula
Frothing of saliva
Coughing while feeding
Recurrent aspiration
Ix of tracheo- esoph fistula
NG tube through the nose. Take an X- Ray. NG tube coiling
Mx of tracheo- esoph fistula
Keep the child NBM
Frequently suck out secretions
Give IV fluids
Refer to a GI surgeon
Antenatal clues of tracheo- esoph fistula
Polyhydramnios
Duodenal atresia DDD?
Duodenal atresia
Double bubble appearance
Down Xd
Nature of vomiting in duodenal atresia
Bilious vomiting
Non- projectile
Onset of duodenal atresia
From day 1 of birth
Is abdominal distension seen in duodenal atresia
No
Corrective surgery in duodenal atresia
Cut the narrow segment and do an end-to-end anastamosis
Ix of duodenal atresia
Double bubble appearance on Abd X- Ray
Volvulus presentation
Present with bilious vomiting, abd distension, intermittent crying
nature of vomiting in volvulus
bilious vomiting
Ix of volvulus
USS Abd
Mx of volvulus
Keep the child NBM
NG tube
IV fluids
Surgical referral
Complications of volvulus
The twisted part could die.
Have to be resected.
At risk of short bowel Xd
Complications of short bowel Xd
Malnutrition
Low weight
Vitamin deficiencies
(T/F)
1.Pyloric stenosis is mostly seen in boys.
2. There is a family history on the paternal side.
3.Pyloric stenosis presents with bilious vomiting
4. Mostly seen in first- borns
- T
2.F
3.F
4.T
Presenting age of pyloric stenosis
2-7 weeks of age
the problem in pyloric stenosis
hypertrophy of the pyloric muscle
Sx of Pyloric stenosis
Forceful vomiting eventually becoming projectile.
Hunger after vomiting
Visible gastric peristalsis
A pyloric mass (like an olive) palpable over the RUQ
Ix for pyloric stenosis
USS Abd - Visible milk line ending at the pylorus
Complications of pyloric stenosis
Reduced Cl-
Reduced Na+
Reduced K+
Reduced H+
pH high - metabolic alkalosis
Dehydration
Mx of pyloric stenosis
- Correct all electrolyte imbalances with IV fluids
2.Pyloromyotomy
Pyloromyotomy
Division of the hypertrophied muscle length-wise down to the mucosa ( but not including mucosa)
Why does the baby cough while feeding in tracheo- esoph fistula?
Milk goes into the trachea through the fistula
Peptic ulceration is usually caused due to?
Gastritis, Helicobactor pylori infections
How is H. pylori identified?
Gastric Antral Biopsies - Best
Urea breath test
How is urea breath test carried out?
Urea is given with radioactive labelled C. If H. pylori is present it breaks down urea into ammonia and CO2. When the radioactive C is present in the breath, this confirms the presence of H. pylori.
H. pylori is a Gram-negative bacterium. T/F?
T
What are the 2 types of Ulcers that fall under peptic ulcer disease?
Duodenal ulcers
Gastric ulcers
Presentation of gastric ulcers
Pain after meals
Relieved after vomiting
Common in children
Weight loss
Nocturnal pain is uncommon
Presentation of duodenal ulcers
Uncommon in children
Exacerbation of pain at night - fasting
Relieved after eating
Nocturnal pain is common
Management of Peptic ulcer disease
Adolescents- Stop alcohol, smoking.
Avoid Aspirin and other NSAIDs.
PPIs
Triple therapy to eradicate H. pylori infection. (2ABx+ PPI)
If no response to Rx, an Upper GI endoscopy should be carried out.
What is triple therapy?
2 antibiotics and a PPI
Amoxicillin, Metronidazole, Omeprazole
If patient has features of duodenal/ gastric ulcers, but upper GI endoscopy appears normal, What’s the most likely diagnosis?
Functional Dyspepsia
Signs and Sx of dyspepsia
Abdominal Bloating
Heart Burn
Belching
Nocturnal Regurgitation
N & V
Epigastric pain
Presentation of Irritable Bowel Syndrome (IBS)
Abdominal pain - Often worse than before or relieved by defecation
Bloating
Constipation (Often alternating with normal or loose stools)
Desire/ Sensation to go to the toilet after a meal
Explosive, loose or mucousy stools
Feeling of incomplete defecation
Possible pnemonic - ABCDEF
What is the cause of IBS?
Its associated with altered GI motility and an abnormal sensation of intra-abdominal events.
An over sensitization of the GIT
Mx of IBS
Supportive Mx
What is Constipation?
Infrequent passage of dry, hardened faeces often accompanied by straining or pain
What is used to check the nature of the stools?
Bristol Chart - 7 types
1 to 4 - Constipation
Presentation of Constipation
Abdominal pain which waxes and wanes with passage of stool or overflow soiling.
What is overflow soiling?
Stools get collected in the rectum, margins of the stool liquefy due to bacterial action leading to faecal soiling (Encopresis) staining undergarments.
Causes of constipation
Commonest cause - Functional constipation: Low water intake, low fiber intake, Dehydration/ reduced fluid inake
In babies - Hirschsprung disease, anorectal abnormalities, hypothyroidism and hypercalcemia.
Anal fissure causing pain.
Older children - Problems related to toilet training, unpleasant toilets, stress.
What questions will you ask the mother of a child presenting with Constipation?
Is growth normal? No abdominal distention? - Functional constipation
Delayed passing of meconium? - Hirschsprung Disease
Sleepy? Decreased food intake, Cold intolerance, Weight gain - Hypothyroidism
High blood Ca, Ca in urine, kidney stones - hypercalcemia
What important Hx must you take about the first few days of life?
Meconium passing within 48hrs of life
A well looking child, with normal growth, abdomen is flat, non tender, soft faecal mass in the lower left quadrant and rectum is full of hard stools. What’s the most likely Dx?
Functional Constipation
A poorly nourished child with poor growth, distended abdomen and an empty rectum. What’s the most likely Dx?
Hirschsprung Disease
A lethargic child, who is obese with a short stature, bradycardia and cool, dry skin. What’s the most likely Dx?
Hypothyroidism
Upon clinical examination of a constipated patient, what are the findings?
Palpable abdominal mass in a well looking child
DRE if a pathological cause is suspected - Hard stools found in rectum
Faecal soiling occurs in functional constipation
Investigations for Constipation
Not usually required to dx idiopathic/functional constipation.
If you suspect a disease - Ca levels, thyroxine and TSH levels
Mx of constipation
If of new onset, No palpable mass in abdomen - Balanced diet, sufficient fluids. May need osmotic laxatives (Lactulose).
Long standing constipation - Stimulant Laxatives (Senna/ picosulphate/ Dulcolax) with/ without osmotic laxatives.
If these fail, Enema or manual evacuation under GA by paed specialist.
Types of laxatives with Examples
Osmotic - Lactulose
Stimulant - Senna, Picosulphate, Dulcolax
How long should drugs be taken for constipation?
Drugs should be continued for at least 3 months to prevent reoccurrence
Pathophysiology of Hirschsprung Disease
Absence of ganglionic cells in the myenteric and submucosal plexuses which extends from the rectum ending in a normally innervated colon. This portion becomes narrow and contracted due to the lack of nerve supply.
C/F of Hirschsprung Disease
Presentation usually in neonatal period with intestinal obstruction.
Failure to pass meconium within the first 48hrs of life.
Bile- stained vomiting may develop later
Rectal examination may reveal a narrowed segment and withdrawal of the examining finger often releases a gush of liquid stool and flatus due to dialation of the contracted portion.
Infants may present with severe, life threatening Hirschsprung enterocolitis during first few weeks of life, sometimes due to Clostridium difficile infection.
In later childhood, presentation is with chronic constipation, associated with abdominal distention with no soiling.
Growth failure maybe present
Hirschsprung Disease Ix
Rectal Manometry
Barium Studies
Rectal biopsy - No ganglionic cells (Best Ix)
What happens if Hirschsprung disease is not Rx?
Colon proximal to the obstruction will enlarge dragging blood vessels leading to decreased blood supply and tissue death (necrosis). Anaerobic bacteria will settle leading to Hirschsprung enterocolitis.
Abdominal pain, Abdominal distention, Stools with blood, Very high fever, Very ill looking patient
Mx of Hirschsprung disease?
Cut of aganglionic portion and connect colostomy.
Later on end to end anastomoses of normally innervated bowel to anus.
Difference between Functional Constipation and Hirschsprung Disease
Functional Constipation
Onset after 2yrs of age, Thrives, No enterocolitis, No abdominal distention, Gains weight, Normal Anal tone, Stool in rectal ampulla, Anorectal manomaetry reveals rectum distention and relaxation of internal sphincter, Barium enema reveals large amount of stool and no transition zone, Faecal soiling
Hirschsprung Disease
Onset at birth, failure to thrive, possible enterocolitis, abdominal distention, poor weight gain, normal anal tone, no stool in rectum, No sphincter relaxation in anorectal manometry, Transition zone with delayed evacuation in barium enema, No fecal soiling.
Primary mechanisms of acute gastroenteritis in children
- Damage to villous brush border leading to malabsorption and Osmotic diarrhoea due to the presence of osmotically active particles (glucose, lactose) that draw in water to the intestinal lumen.
- Toxins (Cholera) that bind to specific enterocyte receptors that activate water channels releasing chloride ions into the intestinal lumen, leading to secretory diarrhoea.
What is diarrhoea?
Passage of unusually loose or watery stools. Usually > 3 times/ day.
Consistency of stools is more important than the amount of stools passed
Types of diarrhoea
Acute - Acute watery (Viral) Diarrhoea, Acute bloody (Bacterial, Dysentery) Diarrhoea.
Persistent - Last >= 14days (Cut off for chronic diarrhoea)
Features of Bacterial/ Acute bloody Diarrhoea
High Temperature
Severe abdominal pain, tenesmus
Lasts for several days
Smaller volumes of stools
Main dangers are intestional mucosal damage, Sepsis, malnutrition
Usually caused by - campylobactor jejuni, Enterohemorrhagic E.coli, shigella, Amoeba
Can initially present as watery diarrhoea
Features of Viral/ Acute watery Diarrhoea
Lasts for several hours/days
Large amounts of stools
Dehydration is the main danger
Usually caused by Rotavirus, adenovirus, calcivirus, coronavirus, Hep A
Bacteria - Vibrio cholerae
Rarely can cause bloody diarrhoea as well
Clinical Features of a patient presenting with diarrhoea
Diarrhoea - Watery/bloody/mucoid
Vomiting - May occur before onset of diarrhoea
Abdominal pain
Signs and Sx of Infection - Fever, chills, muscle pain
Signs and Sx of dehydration
What is Lactose intolerance?
Lactose is not converted into glucose and galactose due to the deficiency of the lactase enzyme.
Patients will present with explosive, frothy stools after consumption of dairy products.
What are the types of Lactose intolerance?
- Primary - From Birth
Breast milk should be avoided.
Milk Powder without lactose can be given (O-Lac) - Secondary - Following a diarrhoeal illness
Breast Milk can be given
Causes of Chronic Diarrhoea
Poor immunity (HIV)
Parasitic infections (Amoeba, Giardiasis)
Inflammatory Bowel Disease
Ix for patients with Diarrhoea
Viral gastroenteritis is a clinical dx
Stool examination (Naked eye & microscopic)
Stool culture and ABST - If bacterial case is suspected
Serum Electrolytes - Electrolyte abnormalities
FBC, CRP, Blood culture - If sepsis suspected
Stool Full Report -
A - Amoeba
O - Ova
C - Cysts
How would you present Ix for a child presenting with Diarrhoea in a Viva Exam Setting?
Diarrhoea is most commonly a clinical Dx, therefore there is no requirement for Ix. But in certain cases, Ix can be carried out, if severe dehydration is present with electrolyte imbalance, S. electrolytes will be carried out. If child is having fever and there is a possibility of sepsis, a stool full report will be conducted to see for any amoeba, ova, cysts or stools with blood. If its the case a stool culture with ABST will be done. If sepsis is suspected, blood Ix FBC, CRP, and blood culture will be done.
Mx of diarrhoea
Involves,
Correction of existing water and electrolyte deficit
Replacement of ongoing losses
Provision of normal daily fluid replacement (Maintenance)
Zinc Supplement - 10 -20mg/kg for 14 days - Reduces severity of diarrhoea and prevents occurence for 3 months
Probiotics
Ana Malu banana
Good food and good hygiene
What are the types of dehydration?
- No/ Mild -
Well and alert patient, Normal eyes with tears, moist mouth and tongue, Thirsty, Skin pinch normal - Moderate/ Some -
Restless, IRRITABLE, Sunken eyes with absent tears. Dry mouth and tongue, Thirsty and drinks eagerly. Skin pinch goes back slowly. - Severe -
Lethargic, unconscious, floppy. Eyes very much sunken and dry. Absent tears. Very dry mouth and tongue. Drinks poorly/ unable to drink. Skin pinch goes back very slowly.
What are the fluid deficits in the 3 types of dehydration?
Mild - <5% of body weight (<50ml/kg)
Moderate - 5 - 10% of body weight (50 - 100ml/kg)
7.5% for calculation
Severe - >10% of body weight (>100ml/kg)
10% for calculation
How do you replace ongoing water loos?
Large amount of Loose motion - 100ml/ motion
Small amount - 50ml/motion
How do you calculate daily maintenance requirement?
1st 10Kg - 100ml/kg
2nd 10kg - 50ml/kg
Rest - 20ml/kg
How do you calculate the already existing loss loss from dehydration?
It depends on the level of dehydration.
Weight of child * Fluid Deficit%
How do you calculate the fluid requirement in a patient with diarrhoea and dehydration?
Fluid Requirement = Maintenance + Already existing Loss + Ongoing loss
Precaution to be taken when correcting Hypo or Hypernatremia associated with diarrhoea
It should be corrected slowly over a period of 12hrs.
Complications of gastroenteritis
Dehydration
Shock - Hypovolemic
Symptoms and Sx - Cold peripheries, Prolonged capillary refilling time, tachycardia, thready pulse, decreased Bp.
Sepsis
Acute Renal Failure
Hemolytic Uremic Syndrome
How do you Mx gastroenteritis complicated with hypovolemic shock?
Fluid bolus 10 - 20ml/kg of Normal saline and reasses BP. 2nd bolus of normal saline. If failed might need Iv Colloids ( Blood, albumin, FFP). If failed, vasoconstrictor drugs should be used.
What happens in Hemolytic uremic syndrome?
Hemolysis - Haemoglobin decreases, Bilirubin increases resulting jaundice.
Uraemia - Increased urea and creatinine
Low platelets leading to bleeding.
What is Post-gastroenteritis Xd?
Following an episode of gastroenteritis, temporary lactose intolerance may develop. Lasts for about 14 days.
Confirmed by the presence of non-absorbed sugar in the stools.
ORS and a normal diet helps manage.
Composition of ORS/ Jeewanie
Na - 75mmol/L
K - 20mmol/L
Glucose - 75mmol/l
Cl - 65mmol/L
Citrate - 10mmol/L
Total - 245mmol/L
How long can a ORS/ Jeewanie can be kept after mixed with water?
Maximum of 24hrs
Should be prepared fresh every 24hrs
What is Food Poisoning?
Condition where at least 2 people gets affected after consuming the same food product.
Intussusception
Invagination of proximal bowel into a distal segment. Commonly ileum passing into the caecum through the ileocecal valve.
At what age may intussusception develop?
Peak presentation between 4M to 2 years.
In SL - After 6M
May occur at any age
Causes of Intussusception
Following a diarrhoea
After a viral infection causing enlargement of peyer’s patches
As a complication of HSP
C/F of Intussusception
Paroxysmal, Severe, colicky abdominal pain - during episodes child becomes pale and draws up his legs. Recovers between painful episodes but becomes increasingly lethargic.
Vomiting - maybe bile stained depending on site of obstruction
Palpable sausage shaped mass in abdomen
Passage of characteristic redcurrant jelly stool containing blood stained mucus - Occurs later in illness
Intermittent crying
Ix for Intussusception
USS abdomen - Best
Xray will show intestinal obstruction
Mx of Intussusception
If no signs of peritonitis -
Reduction of Intussusception by RECTAL AIR INSUFFLATION by a radiologist.
Hydrostatic reduction
Surgery if reduction with air/water is not successful or if peritonitis is presnt.
If child is in shock - IV fluid resuscitation (often pooling of fluid in the gut which may lead to hypovolemic shock)
Complications of Intussusception if not Mx
Stretching and constricting mesentery results in venous obstruction, causing engorgement and bleeding from the bowel mucosa, fluid loss and subsequent bowel perforation, peritonitis and gut necrosis.
Intussusception can be a killer
What are the signs of 2 of Meckel Diverticulum?
2 feet from ileocecal valve
2 inches in length
2 types of mucosa
2 yrs of age common
2% of individuals
What is Meckel Diverticulum?
An ileal remnant of the vitello-intestinal duct.
Contains ectopic gastric mucosa and pancreatic tissue.
C/F of Meckel Diverticulum?
Generally asymptomatic
May present with bleeding - Painless (maybe life threatening) due to acid secretion by ectopic gastric mucosa
Intussusception, volvulus or diverticulitis maybe present.
Ix and Rx of Meckel Diverticulum
Ix - Meckel Scan
Rx - Surgical Resection
Coeliac disease
Sensitivity to the gliadin fraction of gluten in the proximal small intestinal mucosa
Examples for gluten containing food
Wheat
Rye
Barley
Rice is gluten free
Coeliac disease is AKA?
Gluten sensitive enteropathy
C/F of coeliac disease
Classic presentation is at 8 - 24M (Generally after 6M after the introduction of weaning food)
Short stature
Growth Failure
Distended Abdomen
Wasted Buttocks
Coeliac disease Dx
Positive serology - IgG or IgA tissue transglutaminase and endomysial antibodies
Flat mucosa on jejunal or duodenal biopsy - Increased intraepithelial lymphocytes, VILLOUS ATROPHY AND CRYPT HYPERTROPHY
Resolution of Sx and catch up on growth upon gluten withdrawal
Mx of Coeliac Disease
Gluten free diet for life
Complications of Coeliac Disease and their causes
Steatorrhea - Fat Malabsorption
Petechiae & Ecchymosis - Vitamin K malabsorption
Type 1 Diabetes, Hypothyroidism - Association with other autoimmune diseases
Edema - Protein malabsorption
Peripheral Neuropathy - Vitamin B12 malabsorption
Anemia - Fe, Folate & B12 malabsorption
Tetany, Osteomalacia - Vitamin D, Ca malabsorption
Causes of Viral Hepatitis
Hepatitis Viruses A B C D E
EBV
What is the only type of DNA Hepatitis virus?
Hep B
What is the “Sinhala” name of Hep A?
Sengamale
Speciality in the structure of Hep D?
A defective RNA virus, depends on Hep B for replication
Routes of transmission of the Hep Viruses
A & E - Faeco-oral
B, C, D - Perinatal transmission from carrier mothers, Infected blood and blood product transfusion, Needle stick injuries with infected blood, Renal dialysis, Unprotected sex among adults
C/Features of Hep A and E
Maybe asx
Mild illness.
D, V
Recover clinically and biochemically within 2-4W
Complications of Hep A
Prolonged cholestatic hepatitis (Self-limiting)
Fulminant hepititis
Chronic Liver disease do not occur with Hep A. T/F
T
Viral markers of Hep A and B
A - IgM antibody
B - anti-HBc positive in acute infection
What does HbsAg denote?
An ongoing infection
Rx of Hep A
Fluids given
No Rx and no evidence that bed rest or change of diet is effective
Close contacts should be given prophylaxis with human normal Ig or vaccinated within 2 weeks of the onset of illness
Prevention of Hep A
Hep A vaccine is not given to every child
Give vaccine to child before going to an area prevalent in Hep A.
C/F Hep B
Infants who contract HBV perinatally are asymptomatic.
90% become chronic carriers
Older children maybe asymptomatic or features of acute hepatitis
Complications of Hep B
Fulminant hepatic failure (1-2%)
Chronic carriers
30-50% of chronic carrier children will get chronic HBV liver disease which may progress into cirrhosis in 10%.
Long term risk of HCC
Rx of Hep B
No Rx for acute HBV infection
In chronic infection - Interferons, lamivudine. Poor eficacy
Prevention of Hep B
All pregnant women should have antenatal screening for HBsAg.
Babies of all HBsAg + mothers should get Hep B vaccine.
If mother is HBsAg + HBeAg +, Vaccine and Hep B Ig should be given to baby
If HBsAg only - Vaccine
HBe normally does not occur alone
Sex education
C/F of Hep C
Seldom causes an acute infection
Majority become chronic carriers
Complications of Hep C
20 - 25% risk of progression to cirrhosis or HCC
Rx of Hep C
Combination of Pegylated interferon and ribavirin
Rx is not started before 4yrs of age, as it may resolve spontaneously following vertically acquired infections
C/F and complications of Hep D
Co-infection with Hep B or as a superinfection causing an acute exacerbation of chronic hepatitis B infection.
50-70% of Patients develop cirrhosis.
What is the normal PCM dose for children?
15mg/kg
What is acute liver failure in children?
Development of massive hepatic necrosis with subsequent loss of liver function, with or W/O hepatic encephalopathy
Causes of acute liver failure in children
Infections. - Viral Hep A, B, C
Poison/drugs - PCM, isoniazid, halothane, Amanita phalloides (Poisonous mushrooms)
Metabolic - Wilson’s disease
Autoimmune Hepatitis
Reye Xd - due to Aspirine
C/F of acute liver failure in children
Jaundice - Due to bilirubin not excreted
Hypoglycemia - No gluconeogenesis
Bleeding - Depleted clotting factors
Hepatic encephalopathy - Increased ammonia
Raised Intracranial Pressure - Cerebral edema
Acute kidney injury - Hepatorenal Xd
Reduced plasma oncotic pressure - Impaired albumin synthesis
Raised liver transaminases - Damage to hepatocytes
Complications of acute liver failure in children
Cerebral Edema
Haemorrhage from gastritis or coagulopathy
sepsis
pancreatitis
Ix for acute liver failure in children
Liver enzymes - Elevated. AST (SGOT) ALT (SGPT)
PT/INR - Increased
Blood glucose level
acute liver failure in children MX
Monitor Acid base balance, blood glucose and coagulation times
Maintain blood glucose >4mmol/L with IV dextrose
Preventing Sepsis with broad-spectrum antibiotics and antifungals
Preventing haemorrhage with IV Vit. K, FFP or cryoprecipitate and H2 R blocking drugs or PPI - Gut acidity provokes bleeding
Treating Cerebral edema by fluid restriction and Manitol diuresis.
Urgent transfer to a specialist liver unit
Some children might need liver transplantation
What is Reye Xd?
An acute non-inflammatory encephalopathy with microvesicular fatty infiltration of the liver
Cause of Reye Xd
Close association with aspirin therapy < 12Yrs of age
Jaundice is found in Reye Xd. T/F?
F
Causes of Chronic Liver Disease in Children
Chronic Hepatitis - Post Viral hep B C, Autoimmune hepatitis, Drugs (nitrofurantoin, NSAIDS), IBD (Ulcerative Colitis)
Wilson’s disease (>3yrs)
Alpha1 - Antitrypsin Deficiency
Cystic Fibrosis
Neonatal Liver disease
Congenital Liver Disease (Hepatitis) - When the mother has some viral infection during pregnancy
C/F of Chronic Liver Disease in Children
Varies from acute hepatitis to the development of hepatosplenomegaly, cirrhosis and portal hypertension with lethargy and malnutrition.
Complications of Chronic Liver Disease in Children
Causes Cirrhosis which can lead to -
Portal HTN: Splenomegaly, esophageal varices, ascites, spontaneous bacterial peritonitis (SBP)
Hepatic encephalopathy
HCC
Hepatorenal Xd
CLD Mx
Supportive Mx -
Correction of Nutrition with high protein diet provided that the child is not in acute liver failure, high carbohydrate diet
Administer Fat soluble vitamins
Emollients for pruritis due ti jaundice
Mx of encephalopathy by Rx the precipitating factor (Sepsis, GI hemorrhage) by protein restriction or by using oral lactulose to reduce ammonia reabsorption by increasing colonic transit.
Antibiotics
Liver Transplantation Indications -
Severe malnutrition unresponsive to intensive nutritional therapy
Recurrent complications (Bleeding varices, resistant ascites)
Failure of growth and development
Poor quality of life
What’s the pathophysiology of Hepatic encephalopathy?
Normally - Proteins are broken down into peptides, which are broken down into AA. They break down into ammonia and CO2. NH3 enters the liver and excreted via the kidney in the form of urea.
Since the liver is not functioning in CLD, NH3 levels increase and collects in the brain leading to encephalopathy.
What is Wilson’s Disease?
Autosomal recessive
Common in consanguineous marriages (Blood relatives, same village).
Reduced synthesis of copper binding protein ceruloplasmin and defective excretion of copper in bile.
Copper accumulates in liver, brain (Basal ganglia), kidney and cornea.
Wilson Disease C/F
Acute hepatitis, fulminant hepatitis, cirrhosis, portan HTN
Neuropsychiatric features from 2nd decade - Deterioration of school performance, mood,, behavior change
Extrapyramidal Signs - Incoordination, tremor, dysarthria
Renal tubular dysfunction
Vit D resistant Rickets
Hemolytic anemia
Copper accumulation of Cornea - Kayser Fleischer rings (Amber coloured rings): Not seen before 7yrs of age
Ix of Wilson Disease
Low S. Ceruloplasmin and copper in blood
Urinary copper excretion is increased when penicillamine is given (Penicillamine challenge test)
Dx is confirmed by the finding of elevated hepatic Cu on liver biopsy or identification of the gene mutation
Wilson Disease Mx
Penicillamine or trientine - Both promote urinary excretion of Cu reducing hepatic and CNS Cu,
Zn to reduce Cu absorption
Pyridoxine to prevent peripheral neuropathy
Liver transplantation is considered for children with acute liver failure or severe end-stage liver disease
Avoid Cu containing diets (Chocolate, Fish, Nuts)
Manifestations of Acute Hepatitis
Nausea
Anorexia
Abdominal Pain
Jaundice
Tenderness R/hypochondrium
Cirrhosis + Bronchiectasis + Pancreatic insufficiency
Cystic Fibrosis
Cirrhosis + Young onset COPD
Alpha 1 antitrypsin Def.
Cirrhosis + Ulcerative Colitis
Primary Sclerosing Cholangitis
Cirrhosis + Autoimmune disease
Autoimmune Hepatitis
Cirrhosis + Extrapyramidal features + Hemolytic Anemia + Vit D Resistant Rickets
Wilson Disease
Cirrhosis + Skin hyperpigmentation + hypogonadism + HF + DM
Hemochromatosis
Cirrhosis + Child Abuse
Hep B
Cirrhosis + Hypoglycemia + Massive Hepatosplenomegaly + Doll like face (Fat cheeks) + Short Stature
Glycogen Storage Disease
Cirrhosis + Hypoglycemia + Cataracts
Galactosemia
Hep V that does not cause chronic hepatitis
A
Vaccines are available for what Hep Viruses?
A & B
Liver failure which does not have Jaundice
Reye Xd?
What is given to reduce Cu absorption in Wilson Disease?
Zn
Ix to Dx hepatic encephalopathy
Ammonia Levels?
Ix to Dx coagulopathy in liver disease
Clotting times?
Fluid of choice in Acute Liver Disease
Inflammatory bowel disease consists of
Crohn’s
Ulcerative colitis
Crohn’s affects… of the GIT
Any part
Ulcerative colitis affects… of the GIT
Only the colon and rectum
Skip lesions are seen in
Crohn’s disease
T/F
The entire colon and rectum is involved in Ulcerative colitis
T
Deep ulcers and fissures are called as
Cobblestone appearance
The mucosa in ulcerative colitis is …. colour
Red
Transmural inflammation is seen in
Crohn’s
In ulcerative colitis inflammation is limited to
the mucosa
Non- caseating granuloma is seen in
Crohn’s
Crypt abscesses are seen and goblet cells are reduced in
Ulcerative colitis
Extra- intestinal manifestations are more common in (UC/Crohns?)
Crohns
Classic Sx in Inflammatory bowel disease
Abd pain
bloody mucoid diarrhea
weight loss
Systemic Sx seen in Crohn’s
Fever
Lethargy
LOW
Growth failure
Extra- intestinal manifestations seen in Crohn’s
Oral lesions or perianal skin tags
Uveitis
Arthralgia
Erythema nodosum
Delayed menarche
Extra- intestinal manifestations seen in ulcerative colitis
erythema nodosum
arthritis
pyoderma gangrenosum
Ix done for inflammatory bowel disease
Upper GI endoscopy
ileocolonoscopy
Mx of Ulcerative colitis
Aminosalicylate ( Mesalazine)
Colectomy
Mx of Crohn’s
Polymeric diet
Steroids if diet change is ineffective
