Paeds - GI Flashcards

1
Q

what is GORD?

A

gastro-oesophageal reflux disease - when there is the inappropriate effortless passage of gastric contents into the oesophagus

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

what are the causes of reflux in infancy?

A

it is associated with slow gastric emptying, liquid diet, horizontal position, and low resting lower oesophageal sphincter pressure.

lower oesophageal sphincter dysfunction (hiatus hernia) may cause reflux
increased gastric pressure 
external gastric pressure
gastric hypersecretion of acid 
food allergy 
cerebral palsy
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

what age group is GORD common in?

A

common in the first 5 years of life but usually all symptoms clear by 12 months.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

how does GORD present?

A
regurgitation 
non-specific irritability 
cough 
hoarseness
stridor
lower respiratory disease - aspiration pneumonia, asthma 
dystonic neck posturing
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

what are the complications of GORD?

A
oesophageal stricture 
barrett's oesophagus 
faltering growth 
anaemia 
lower resp disease
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

how is GORD managed in children?

A

usually diagnosed clinically
nuse infants on a head up slope of 30 degrees
thicken milk feeds in infants, small frequent meels, avoid food before sleep, avoid fatty foods, cirtus juices, caffeine and fizzy drinks
add drugs if severe - ranitidine or omeprazole

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

what causes pyloric stenosis in children?

A

idiopathic hypertrophic pyloric stenosis

hypertrophy of the pylori muscle causing outlet obstruction

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

when does pyloric stenosis usually present?

A

usually in the third or fourth week of life

** it is more common in boys

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

what is the presentation of pyloric stenosis in infants?

A

projectile vomiting, non-bilious, may contain altered blood (coffee ground) or fresh blood from oesophagitis. Vomiting will occur within an hour of feeding and the baby is immediately hungry. If they present early (2nd/3rd week) then vomiting may not be projectile.
weight loss
constipation
dehydration, malnutrition and jaundice are late sings
palpable mass in the upper abdomen

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

what tests would you perform to diagnose pyloric stenosis?

A

test feed - peristalsis seen during feed, the pyloric tumour is usually easiest felt early in the feed or after the baby has vomited
US - if tumour cannot be felt, USS will confirm or exclude the diagnosis
biochemistry - hypochloraemic, hypokalaemic metabolic alkalosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

how is pyloric stenosis managed in children?

A

rehydrate and correct the alkalosis before surgery
IV fluids
withold feeds - the stomach should be emptied with an NGT
Ramsteds’s pyloromyotomy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

what is crohn’s disease?

A

it is a type of inflammatory bowel disease that may affect any part of the GI tract but terminal ilium and proximal colon are commenest sites of involvement
bowel involvement is non-continuous (skip lesions)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

how does crohns disease present?

A
abdominal pain 
diarrhoea +/- blood/mucus 
weight loss
lethary 
fever
oral lesions 
perianal skin tag
uvitis 
erythema nodosum
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

what investigations woud you perform for crohns disease?

A

FBC - anaemia may be present, leukocytosis is associated with acute or chronic inflammation, thrombocytosis is a useful marker for active inflammation

iron studies, B12, and folate

there may be hypoalbuminaemia, hypocholesterolaemia, and hypocalcaemia

raised ESR and CRP

stool samle - to rule out and infectious cause

endoscopy

CT or MRI - helps to localise disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

how do you treat crohns disease?

A

mildly active disease
- observation with monitoring or budesonide

moderately active disease

  • budesonide and/or 5-ASA, secondary option prednisolone. Antibiotics can be added if septic complications are suspected
  • 2nd line - immunomodulator therapy - azathioprine

in moderate to severe disease oral prednisolone or IV methylprednisolone can be used to induce remission
antibitoics - ciprofloxacin or metronidazole can also be useful

infliximab may be usuaful if conventional treatments dont work

surgical management: local surgical resection for severe localised disease e.g. strictures, fistula, may be indicated

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

what is ulcerative colitis?

A

a form of inflammatory bowel disease, inflammation always starts at the rectum and never spreads beyod the ileocaecal valve and is continuous.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

what is the presentation of UC?

A
bloody diarrhoea 
urgency 
tenesmus 
abdominal pain, particularly in the lower left quadrant 
weight loss
growth failure 

in children it is usually pancolitis where as in adults it is usally confined to the distal colon

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

how is UC managed?

A

amino salicylates are used to induce remession (mesalazine)
oral corticosteroid can also be used
more agressive disease may need immunomodulator therapy (azathioprine) to remain remession

if severe - manage in hospital

*methotrexate is not reccomened in UC

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

how is UC diagnosed?

A
colonoscopy 
biopsies 
stool studies 
FBC
ESR
CRP
barium enema - will show loss of haustrations, superficial ulceration and in long-standing disease - the colon is narrow and short
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

what are the viral causes of gastroenteritis?

A

rotavirus (most common)
caliciviruses (norovirus and sapovirus)
adenovirus
astrovirus

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

what is the presentation of gastroenteritis?

A
vomiting 
non-bloody diarrhoea 
cramping abdominal pain 
low grade fever 
dehydration
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

what are the risk factors for dehydration in gastroenteritis?

A
  • infants under the age of 6 months or those born with a low birth weight
  • if they have passed more than 6 diarrhoeal stools in the previous 24 hours
  • if they have vomited three times of more in the past 24 hours
  • if they have been unable to tolerate/not been offered extra fluids
  • if they have malnutrition
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

what are the different classifications of dehydration?

A

mild: (less than 5% loss of body weight): skin turgor may be dcreased, dry mucous membranes, low urine output, HR increased, BP normal, perfusion normal, pale, may be irritable
moderate: (5-10% loss of body weight): skin turgor decreased, very dry mucous membranes, oliguric, HR increased, BP may be normal, prolonged cap refil, grey skin colour, lethargic
severe: (10-15% loss of body weight): poor skin turgor with tenting, parched mucous membranes, anuric, increased HR, BP decreased, prolonged cap refil, mottled skin, comatose

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

what are the red flag signs of hypovolaemic shock?

A

appears unwell or deteriorating, altered responsiveness, tachycardia, tachypnoea, skin turgor reduced

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

what is isonatraemic and hyponatraemic dehydration?

A

Isonatraemic - losses of sodium and water are proportional and the plasma sodium levels remains within a normal range
hyponatraemic - if the child with diarrohea drinks large quantities of water, it leads to a fall in plasma sodium - this leads to a shift of water from extra cellular to intracellular compartments which increases cellular volume - may result in convulsions

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

what is hypernatraemic dehydration?

A

water losses exceeds the relaitve sodium loss and the plasma sodium concentration increases
the extracellular fluid becomes hypertonic with respect to intracellular fluid and this leads to a shift of water into the extracellular space from the intracellular compartments
this form of dehydration is hard to see as there is not signs of extracellular fluid delpetion.
This type of dehydration occurs when there is high insensible water loss (when water is lost through the skin - high fever or hot dry enviroment) or from perfuse, low sodium diarrhoea.
water is drawn out of the brain and cerebral shrinkage within rigid skull may lead to jittery movement, increased muscle tone with hyperreflexia, altered consciousness, seizures and multiple small cerebral haemorrhages

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

how do you treat viral gastroenteritis?

A

fluids - oral rehydration solution

mild dehydration - less than 5% loss of body weight give 50mls/kg plus maintenance fluids

moderate (less than 10%) - 100ml/kg plus maintenece

if shock add fluid bolus

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

what are some common causes of bacterial gastroenteritis?

A

it is most common in children under 2

salmonella 
campylobacter jejuni
shigella 
E. coli
clostridium difficile 
Bacillus cereus 

sources of infection include contaminated water, poor food hygiene, faecal-oral route

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

what is the presentation of bacterial gastroenteritis?

A
watery diarrhoea
vomiting
cramping abdo pain 
fever 
dehydration 
electrolyte disturbance 
malaise 
blood and mucus in diarrhoea 
abdo pain may mimic appendicitis or IBD
tenesmus
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

what are the complications of bacterial gastroenteritis?

A
bacteraemia 
secondary infections - pneumonia, osteomyelitis, meningitis 
Reiter's syndrome 
GBS
haemolytic-uraemic syndrome 
reactive arthropathy 
haemorrhagic colitis
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

what investigations would you perform for bacterial gastroenteritis?

A

stool +/- culture
stool clostridium difficile toxin
sigmoidoscopy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

what are the classical symptoms of appendicitis?

A

anorexia
abdominal pain - initially central but localises to the RIF
low-grade fever

nausea
diminished bowel signs

*younger children or children with a retrocaecal/pelvic appendix may present atypically

it is uncommon in children under the age of 4 - however if these children do get it, it often presents when perforated

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

what investigations would you order for appendicitis?

A

FBC - mild leukocytosis (increase in WCC)
pelvic or abdominal CT
USS
urinalysis - to rule out other causes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

how do you treat appendicitis?

A

appendectomy plus supportive care

IV antibiotics - cefoxitin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

what is a congenital diaphragmatic hernia?

A

it is characterised by the herniation of abdominal viscera into the chest cavity due to incomplete formation of the diaphragm - this can result in pulmonary hypoplasia and hypertension which can cause respiratory distress shortly after birth

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

what is the most common type of congenital diaphragmatic hernia?

A

left-sided posterolateral Bochdalek hernia (85%)

- there is left sided herniation of abdominal contents through the posterolateral foramen of the diaphragm

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

on physical examination what signs would you find suggesting a congenital diaphragmatic hernia?

A

the apex beat and the heart sounds will be displaced to the right side of the chest wall, with poor air enrty to the left side

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

how are congenital diaphragmatic hernias diagnosed?

A

usually diagnosed on antenatal USS, but the prognosis for the foetus is poor
if the diagnosis is not made antenataly and the baby present at birth, clinical finding may include resp distress, scaphoid abdomen and apparent dextrocardia.
diagnosis can be confirmed with x-ray

39
Q

how is a congenital diaphragmatic hernia managed?

A

initial management: sedation, paralysis, endotracheal intubation and mechanical ventilation with 100% oxygen.
NGT placement
avoid bag mask valve ventilation
after stabilisation the hernia is repaired surgically - however often the more pressing problem is lung hypoplasia - where the pressing of the herniated viscera has prevented the lungs developing - lung hypoplasia =high mortality

*only arounf 50% of newborn survive

40
Q

what is a hiatus hernia and what are the two types of hiatus hernia?

A

herniation of the stomach into the chest wall through the oesophageal hiatus in the diaphragm
sliding
rolling

41
Q

how is a hiatus hernia diagnosed?

A

radiologically by barium meal

42
Q

what are the features of an inguinal hernia?

A

a reducible swelling in the groin, often extending to the scrtoum
more common in boys and preterm babies
most commonly on the right side due to later descent of the right testis
15% are bilateral
symptoms are rare

43
Q

what is the treatment of an inguinal hernia?

A

reduce following opiod analgesia and sustained compression. Surgery is delayed for 24-48 hours to allow resolution of oedema.
If reduction is impossible, emergency surgery is reuired because of the risk of strangulation of bowel and damage to the testis

44
Q

what is the definition of constipation?

A

infrequent passage of stool associated with pain and difficulty or delay in defaecation

45
Q

what are the nice guidelines for constipation in children under the age of 1 and children older than 1?

A

children less than 1:

  • fewer than 3 complete stools per week (type 3 or 4 on bristol stool chart - rabbit dropping or hard large stools) - this does not apply for children who are exclusively breastfed as these infants may not pass stools for several days
  • distress on passing stools, bleeding associated with stool straining

children older than 1:

  • fewer than 3 complete stools per week, overflowing soiling, rabbit dropping, large infrequent hard stools that can block the toilet
  • poor apetite that improves with the passage of a large stool, waxing and wining of abdominal paain with passage of stool, straining, anal pain
46
Q

what are some causes of constipation?

A
often idiopathic 
other causes:
low fibre diet
lack of mobility and exercise
poor colonic motility 
medications - opiates and anticholinergics 
anal fissure
Hirschsprung's disease 
hypothyroidism
hypercalcaemia 
sexual abuse
47
Q

what is the presentations of constipation?

A
difficult or painful defecation 
long interval between passing stools 
faecal incontinence
overflow faecal incontinence 
palpable faecal mass in abdomen 
otherwise healthy child 
abdominal distension 
abdominal pain
48
Q

what are the reg flag symptoms with constipation?

A
  • failure to pass meconium withing 24 hours of life - indicates hirschsprung disease
  • failure to thrive/grow - indicates hypothyroidism or coeliac disease
  • gross abdominal distension -> indicated hirschprung disease or other gastrointestinal dysmotility
  • abdnormal lower limb neurology defromity -> lumbosacral pathology
  • sacral dimple over the natal cleft, over the spider naevus, hairy patch, central pit or discoloured skin -> spina bifida
  • abdnormality of appearance or postion of anus –> abnormal anatomy
  • bruising -> sexual abuse
  • fistulae, abscesses or fissures -> perianal crohn disease
49
Q

how do you treat constipation?

A

dietary modification (increase fluids and fibre)
start with a osmotic laxative (lactulose/ movicol)
add a stimulant laxative (senna)

if they are over one year of age a stool softener can be added - macrogol laxitive - polyethylene glycol lus electrolytes
* if they are under 4 years old had have faecal impactation a stimulant laxative should not be used

occasionally retention is so severe that evacuation is only possible using enemas or by manual evacuate under an anaesthetic

50
Q

what is Hirschsprung disease?

A

the absence of ganglionic cells from the myenteric and submucosal plexuses of part of the large bowel results in a narrow, contracted segment.
The abnormal bowel extends from the rectum for a variable distance proximally, ending in a normally innervated dilated colon.
in most cases it is onfined to the rectum or sigmoid - short segmen disease
however sometimes it involves the entire colon - long segment disease

51
Q

how do hirschsprung’s disease present?

A

usually withing the first few days of life with intestinal obstruciton - failure to pass meconium in the first 24 hours
later abdominal distension and later bile stained vomiting develop

  • sometimes children with short segment disease will resent later on in childhood with chronic constipation.
52
Q

how is hirschsprung’s disease diagnosed?

A

abdominal x-ray will show intestinal obstrucion
anorectal manometry or barium studies may be useful in giving the surgeon an idea of the length of the aganglionic segment but are unreliable for diagnostic purposes
rectal biopsy will show no ganglionic cells in the submucosa

53
Q

who is hirschsprung’s disease common in?

A

male and down syndrome

54
Q

how is hirschsprung’s disease managed?

A

management is surgically, initially colostomy followe by anastomosing normally innervated bowel to the anus (pull-through procedure)

55
Q

what is the most impotant complication of hirschsprung’s disease?

A

hirschsprung’s enterocolitis - a dramatic gastroenteric illness characterised my abdominal distension, bloody watery diarrhoea, circulatory collapse and septicaemia. usually associated with clostridium diffcile toxin in the stools - mortality is 10%

56
Q

what is coeliac disease?

A

autoimmune disease triggered by dietary gluten peptides

is an enteropathy due to lifelong intolerance to intolerance to gluten

57
Q

what part of gluten causes coeliac disease?

A

the gliadin fraction of gluten provokes a damaging response in the proximal small intestine mucosa

58
Q

what are the risk factors for coeliac disease?

A
a positive family history 
type 1 diabetes 
down syndrome 
IgA deficiency 
autoimmune thyroid disease
59
Q

how does coeliac disease present?

A

the classical initial features include:

  • pallor
  • diarrhoea
  • pale, bulky floating stools
  • anorexia
  • failur to thrive
  • irritibilty

later there is
apathy, gross motor developmental delay, ascites, peripheral oedema, anaemia, delayed puberty, arthralgia, hypotonia, muscle waisting, specific nutrtional disorders

60
Q

how is coeliac disease diagnosed?

A

often is it diagnosed on screening of children at increased risk
diagnosis suggested by positive serology, conformation depends upon the demonstration of mucosal changes - jejunal biopsy showing subtotal villous atrophy, increased intraepithelial lymhocytes, crypt hypertrophy
-anti-endomysial IgA antibodies
- tissue transglutaminase IgA antibody
- anti-gliadin antibodies

61
Q

how do you manage coeliac disease?

A

gluten free diet

calcium and vitamin D deficiency

62
Q

how do you manage a coeliac crisis?

A

rehydration
correction of electrolyte abdormalities
corticosteroids

63
Q

what is failure to thrive?

A

suboptimal weight gain in infants and toddlers
growth falls away from standardized wight or height centile
weight is the most sensitive indicator in infants and young children, height is the best indicator in older children

*under stress - head circumfrance growth is more preserved than linear growth

64
Q

what are the classifications of failure to thrive?

A

mild - falls across two centile lines

severe - falls acorss three centile lines

65
Q

sometimes after birth the infants birth may drop, what does this mean?

A

birth weight reflects intrauterine enviroment - it is a poor guid to the childs correct genetic potential and weight may naturally fall until the correct level is attained.

66
Q

what are some causes of failure to thrive?

A

usually classified as organic or non-organic

organic include: impaired suck/swallow - oro-motor dysfunction, neurological disorder e.g. cerebral palsy, chronic ilness, malabsorption, inadequate retention - vomiting or severe GORD, failure to utilise nutrients , increased requirements - thyrotoxicosis

non-organic - broad spectrum of psychosocial and enviromental deprivation - neglect, socioeconomic deprivation, mothers poor mental health

67
Q

what is marasmus?

A

severe protein malnutrition

68
Q

what is Kwashiorkor?

A

severe protein malnutrition where there is generalised oedma as well as wasting

69
Q

what measurements do WHO reccomend for nutritional status?

A

weight for height (a maasurement of wasting and an index of acute malnutrition)
mid upper arm cirumfrance
height for age - a measurment of stunting and an index of chronic malnutrition

70
Q

what are some signs of kwashiorkor?

A

bilateral pitting oedema
a flacky-paint skin rash with hyperkeratosis (thickened skin) and desquamation
distened abdomen and enlarged liver
angular somatitis
hair which is sparse and depigmented
diarrhoea, hypothermia, bradycardia and hypotension
low plasma albumin, potassium, glucose and magnesium

71
Q

how would you treat kwashiorkor?

A

uncomplicated:
community based therapy with ready to use therapeutic food and also a broad spectrum antibiotic - amoxicillin

complicated:
empirical antibiotic therapy (gentamicin and ampicillin)
vitiman A supplementation
shock - oxygen and fluids
dehydration - rehydration solution for malnutrition (ReSoMal)
hypoglycaemia - supplemental glucose or sucrose
correct electrolyte imbalance
hypothermia - gental waming - especially at night

72
Q

what is intussusception?

A

common cause of intestinal obstruction in young children and is defined as the prolapse of one part of the intestine into the lumen of the adjoining distal part.

73
Q

what is the most common region for intussusception to occur and at what age does it commonly occur?

A

the ileocaecal region

most commonly occuring in infants aged between 3 and 12 months

74
Q

what is the presentation of intussusception?

A

paroxysmal severe colicky pain and pallor, during episodes the child becomes pale
they initially recover between painful periods but subsequently become increasingly lethargic
vomiting
red current jelly stool
abdo distension and shock

75
Q

what investigations would you perform for intussusception?

A

x ray
USS - will show target sign/doughnut sign
diagnostic enema

76
Q

how do you manage intussusception?

A

fluid resuscitation
unless there are signs of peritonitis, contast enema redcution should be tried first
antibiotics should be given - clindamycin and gentamicin

if fails or contraindicated surgical reduction will be required

77
Q

what is meckel’s diverticulum?

A

congenital diverticulum of the small intestine - it is a remnant of the omphalmoesenteric duct (also called the vitellointestinal duct) and contains ectopic ileal, gastric or pancreatic mucose

occurs in 2% of the population
is 2 feet from the ileocaecal valve
is 2 inches long

78
Q

how does Meckel’s diverticulum present?

A

usually asymptomatic
abdominal pain which may mimic appendicitis
rectal bleeding
intestinal obstruction

79
Q

what investigations would you consider for Meckel’s diverticulum?

A

FBC
technetium scan - most useful to diagnose meckel’s diverticulum
USS
abdominal Xray

80
Q

how do you manage meckel’s diverticulum?

A

only treat if symptomatic

excision of the diverticulum

81
Q

what is toddlers diarrhoea?

A

chronic non-specific diarrhoea that occurs from 6 months to five years
stools vary in consistency and often contain undigested food
affected children are often well and thriving and there are no precipitating dietary factors

82
Q

how do you treat toddlers diarrhoea?

A

reassurance, dietary (increase fat intake, normalise fibre intake, reduce milk, fruit juice and sugary drink intake), loperamide may sometimes be needed.

83
Q

what is infant colic?

A

a common set of benign symptoms seen in young children
typically occurs in infants less than three months
characterised by excessive cry and pulling up of the legs which is often worse in the evening
often accompanied by excessive flatus
occurs in upto 40% of infants and usually the cause is unknown
if it is persistant then it may be due to cow’s milk protein allergy or gasto-oesophageal reflux

84
Q

what is biliary atresia?

A

is a progressive idiopathic, necroinflammatory process that may involve a segment or the entire biliary tree.
there is destruction or absence of the extrahepatic biliary tree and intrahepatic biliary ducts

85
Q

what are the features of biliary atresia?

A

neonatal jaundice
babies have a normal birth weight but fail to thrive as disease progresses
pale stools and dark urine
bruising - due to vitamin k deficiency related to chroni cholestasis
hepatomegaly - not until disease has progressed, splenomegaly will often develop secondary to portal hypertension
there is obstruciton of the bile ducts which causes bile to go to the liver and cause increase of conjugated bilirubin in the blood

86
Q

how is biliary atresia diagnosed?

A

serum total and conjugated bilirubin
prothrombin time, INR
FBC - in advanced disease - low platelets and low WBC
LFTs
abdominal USS - will demonstrate contracted or absent gallbladder
liver biopsy will show extrahepatic biliary obstruction - although features may overlap with neonatal hepatitis

87
Q

how is biliary atresia treated?

A

kasai procedure AKA hepatoportoenterostomy - although even when successful can prgress to cirrhosis and portal hypertension

88
Q

what is wilson’s disease?

what is it caused by?

A

an autosomal recessive disorder
caused by a defect in the ATP7B gene located on chromosome 14
reduced synthesis of ceruloplasmin (the copper binding protein) and defective excretion of copper in the bile, which leads to an accumulation of copper in the liver, brain, kidney and cornea.

89
Q

how does wilson’s disease present?

A

rarely presents in children under the age of three - usually symptoms present between the ages of 10-25
those presenting in childhood - a hepatic presentation is more likely
they may present with any form of liver disease - acute hepatitis, fulminant hepititis, cirrhosis and portal hypertension.
neuropsychiatric features - are more common in those presenting from the second decade onwards - they include deterioration in school performance, mood and behaviour changed, extrapyramidal signs such as lack of coordination, tremour and dysathria.
renal tubular dysfunction with vitamin D resistant rickets and haemolytic anaemia also occur.
copper can accumulate in the cornea - kayser fleischer rings - not seen before the age of 7
blue nails

90
Q

how do you diagnose wilsons disease?

A

low serum ceruloplasmin
LFTs
24 hour urine copper
liver biopsy - elevated liver copper

91
Q

how do you treat wilson’s disease?

A

with penicillamine or trientine - both promote urinary copper excretion
zinc - to reduce copper absorption

can be fatal from hepatic complications if left untreated

92
Q

what are choleductal cysts?

A

cystic dilations of the extrahepatic biliary system

93
Q

how do choleductal cysts present?

A

25% present in infancy with cholestasis, in the oder age group they present with abdominal pain, a palpable mass and jaundice or cholangitis

94
Q

how do you diagnose and treat choleductal cyst?

A

diagnosis with USS or radionuclide scanning

treatment is with surgical excision of the cyst