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MRCPCH Clinicals > Abdominal > Flashcards

Abdominal Flashcards

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1
Q

Mass in Wilm’s tumour

A

Renal, sometimes visible, doesn’t cross midline

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2
Q

Mass in neuroblastoma

A

Irregular, firm, may cross midline, child usually very unwell

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3
Q

What is the most common cause of liver failure in children?

A

Biliary atresia

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4
Q

What is the main indication for liver transplant in children?

A

Biliary atresia

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5
Q

What other anomalies is biliary atresia associated with?

A 
Cardiac defects
Polysplenia
IVC abnormalities
Pre-duodenal portal vein
Situs inversus
Malrotation
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6
Q

What is biliary atresia?

A

Destruction or absence of extrahepatic and intrahepatic bile ducts, causing cholestasis, fibrosis and cirrhosis

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7
Q

How does biliary atresia present?

A

Jaundice and failure to thrive

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8
Q

What is the management for biliary atresia?

A

Kasai procedure
Low dose antibiotics to prevent cholangitis
Nutritional support

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9
Q

What is the Kasai procedure?

A

Portoenterostomy: removal of the fibroses biliary tree and formation of a Roux-en-Y anastomosis where a loop of jejunum is anastomosed to the cut surface of th ports hepatic, facilitating drainage of bile from any remaining patent ductules

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10
Q

When should a Kasai procedure be done?

A

ASAP - only usually successful if done before 60 days

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11
Q

What are the complications of biliary atresia?

A

Recurrent cholangitis
Cirrhosis
Portal hypertension

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12
Q

What is the prognosis of biliary atresia?

A

<20% survive long term with their own liver

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13
Q

What are the types of biliary atresia?

A

I - obliteration of CBD
II - CBD and common hepatic duct
III - most common - entire extra hepatic biliary tree

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14
Q

What are the tests of liver synthetic function?

A

Albumin, PT, INR

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15
Q

What are the tests of biliary excretion?

A

Total and direct bilirubin

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16
Q

What are the tests of cholestasis?

A

GGT, ALP

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17
Q

What are the tests of hepatocellular damage?

A

AST and ALT

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18
Q

Where is AST produced?

A

Cytosol and mitochondria of the liver, heart, skeletal muscle, kidney, pancreas, and red cells

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19
Q

Where is ALT produced?

A

Cytosol of liver and muscle cells

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20
Q

What does an ALT:AST ratio >1 suggest?

A

Fibrosis

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21
Q

What does ALP reflect?

A

Biliary epithelial damage

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22
Q

What is Gilbert syndrome?

A

A mild deficiency of UGT activity

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23
Q

What is the cause of Gilbert syndrome?

A

Polymorphism with TA repeats in the TATA box in white people; exon mutations in Asian individuals on 2q37

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24
Q

How common is Gilbert syndrome?

A

7% of the population

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25
What is Crigler-Najjar type II?
Moderate UGT deficiency
26
What is Crigler-Najjar type 1?
Severe UGT deficiency
27
How are Gilbert and Crigler-Najjar inherited?
Autosomal recessive, although Gilbert and Crigler-Najjar type II can be autosomal dominant
28
How is Alagille syndrome inherited?
Autosomal dominant
29
What are the features of Alagille syndrome?
``` Intrahepatic biliary hypoplasia Facial dysmorphism Cardiac defects Renal abnormalities Butterfly vertebrae Ocular anomalies Pancreatic insufficiency Craniosynostosis Neurovascular abnormalities Delayed gross motor milestones ```
30
What are the facial features of Alagille?
``` Wide forehead Deep set eyes Long straight eyes Prominent chin Small, low-set ears ```
31
What are the cardiac defects of Alagille?
Peripheral pulmonary artery stenosis Right sided defects Septal defects
32
What are the ocular anomalies in Alagille?
Posterior embryotoxon, causing peripheral corneal opacification
33
What are the neurovascular abnormalities in Alagille?
Basilar artery anomalies and others
34
What are the genes associated with Alagille?
JAG1 on 20p12 and the NOTCH2 gene
35
How does Alagille syndrome present?
``` Neonatal jaundice Cholestasis Pruritus Xanthomata Failure to thrive ```
36
What is the prognosis in Alagille?
50% regain normal liver function by adolescence; 15% need transplant
37
How is Alagille managed?
``` Urso (increases volume of bile) Cholestyramine (bile acid sequestrant) Rifampicin and naltrexone for itching Surgery Transplant ```
38
What surgeries can be done for Alagille?
Partial external biliary diversion | Ileal exclusion
39
What are the general features of progressive familial intrahepatic cholestasis?
Presents with neonatal hepatitis, pruritus, faltering growth and progressive liver disease needing transplantation in the first few years of life
40
What is type 1 progressive familial intrahepatic cholestasis also known as?
Byler disease
41
What causes Byler disease?
Mutation of FIC1 gene on 18q21-22
42
What are the features of Byler disease?
Pancreatitis Persistent diarrhoea Short stature Sensorineural hearing loss
43
What will investigations show in Byler disease?
Normal GGT and cholesterol Elevated serum bile salts and sweat chloride Low chenodeoxycholic acid in bile
44
What causes type 2 progressive familial intrahepatic cholestasis?
Mutations on chromosome 2q24, the bile salt export pump gene
45
What will the GGT be in type 2 progressive familial intrahepatic cholestasis?
Normal
46
What causes type 3 progressive familial intrahepatic cholestasis?
Mutations in the P-glycoprotine MDR-3 gene (ABCB4)
47
What are the lab findings in type 3 progressive familial intrahepatic cholestasis?
Elevated GGT | Bile phospholipids 15% normal
48
How is Alpha1-antitrypsin deficiency inherited?
Autosomal recessive
49
What causes Alpha1-antitrypsin deficiency liver disease?
PiZZ phenotype of the protease inhibitor on chromosome 14
50
When might Alpha1-antitrypsin levels be normal in Alpha1-antitrypsin deficiency and why?
Inflammatory illnesses - because it is an acute phase reactant
51
What does Alpha1-antitrypsin do?
Neutralises neutrophil elastase and prevents inflammation and tissue damage in the lung
52
How does Alpha1-antitrypsin deficiency cause liver disease?
Abnormal folding of the mutated alpha-1-antitrypsin molecule causes it to become trapped in the endoplasmic reticulum
53
How does Alpha1-antitrypsin deficiency liver disease present?
``` Prolonged neonatal conjugated jaundice Acholic stools Bleeding due to vit K deficiency Hepatomegaly Splenomegaly develops with cirrhosis and portal hypertension ```
54
What is the prognosis of Alpha1-antitrypsin deficiency?
50% good prognosis, the others develop liver disease and need transplantation
55
How is tyrosinaemia type 1 inherited?
Autosomal recessive -gene is located on chromosome 15
56
What is the pathophysiology of tyrosinaemia type 1?
Deficiency of fumarlyacetoacetate hydroxylase, which prevents metabolism of tyrosine - toxic metabolites then accumulate and damage the liver, kidneys, heart and brain
57
How does tyrosinaemia type 1 present?
Infants with acute liver failure | Older children with chronic lung disease
58
How is tyrosinaemia type 1 diagnosed?
Succinylacetone in the urine Increased plasma tyrosine, phenylalanine, and methionine Newborn screening
59
How is tyrosinaemia type 1 managed?
Low protein diet Vitamin D Nitisinon which prevents formation of toxic metabolites, reverses damage
60
How is hereditary fructose intolerance inherited?
Autosomal recessive - abnormal gene is on chromosome 9
61
What causes the fructose intolerance in hereditary fructose intolerance?
The affected gene codes for fructose-bisphosphate aldolase, which catalyses the cleavage of fructose
62
How does hereditary fructose intolerance present?
``` Fatty liver Refusal to eat sweet foods Neonatal hypoglycaemia and lactic acidosis Cirrhosis Failure to thrive GI bleeding Hypoglycaemia attacks Vomiting Seizures Proximal renal tubular acidosis ```
63
What will lab tests show in hereditary fructose intolerance?
``` Fructosaemia High bili and magnesium Low phosphate Glycosuria Phosphaturia Bicarbonaturia High urinary pH ```
64
How is hereditary fructose intolerance managed?
Avoiding fructose and fasting, particularly during febrile episodes
65
What are some complications of chronic hepatitis?
``` Hypersplenism Encephalopathy Oesophageal varices Portal hypertension Protein calorie malnutrition Ascites Thrombosis of portal vein SBP Coagulopathy Hepatocellular carcinoma ```
66
What is the pathophysiology of hepatic encephalopathy?
Portosystemic shunting - neurotoxic metabolites from the gut are shunted around the cirrhotic liver rather than being removed by the liver Altered blood brain barrier (more permeable) Toxic metabolic then affect the CNS
67
What is the first stage of hepatic encephalopathy?
Prodrome: slow mentation, slight asterixis, minimal EEG change
68
What is the second stage of hepatic encephalopathy?
Impending compa - disorientation, drowsiness, slowing on EEG
69
What is the third stage of hepatic encephalopathy?
Stupor - very sleepy, confused, delirious, asterixis, grossly abnormal EEG
70
What is the fourth stage of hepatic encephalopathy?
Loss of consciousness, decorticate or decerebrate posturing, no asterixis, EEG shows delta waves and decreased amplitudes
71
How is hepatic encephalopathy managed?
``` Decrease nitrogenous load to the bowel Reduce bacterial production of ammonia in the colon Review precipitating factors Restrict protein Consider BCAAs Lactulose Neomycin ```
72
What is TIPSS?
Can be used for vatical bleeding - a transjugular intrahepatic portosystemic stent shunt
73
What is the triad of hepatopulmonary syndrome?
Liver dysfunction Intrapulmonary arteriovenous shunts Arterial hypoxaemia
74
What are the features of hepatorenal syndrome?
``` Oliguria Factorial excretion of sodium <1% Urine plasma:creatinine <10 Low GFR and raised creatinine Absence of hypovolaemia ```
75
How is chronic hepatitis managed?
``` Nutritional support Vitamin supplementation Sodium restriction Dialysis Urso Control of bleeding ```
76
Which antibodies might be present in autoimmune hepatitis?
Type 1: ANA, anti smooth muscle | Type 2: LKM-1
77
How is autoimmune hepatitis managed?
Steroids Azathioprine Liver transplant
78
What is the most common form of acute viral hepatitis?
Hep A
79
What kind of virus is hepatitis A?
Picornavirus - RNA
80
How does hep A spread?
Orofaecal
81
What is the incubation period for hep A?
2-6 weeks - infectivity begins during the prodromal phase, peaks at start of symptoms, then rapidly declines. Shedding can persist for 3 months
82
How does hep A present?
Usually asymptomatic, especially in younger people
83
What is the mortality rate for hep A and who is most at risk?
0.2-0.4% symptomatic cases, particularly <5 or >50 years
84
What are the complications of hep A?
``` Liver failure Prolonged cholestasis Extrahepatic complications Recurrent hepatitis Neurological involvement e.g. GBS Renal disease Acute pancreatitis Haematological disorders ```
85
How is hep A diagnosed?
Anti-HAV IgM indicates recent infection, peaks in acute illness and persists for 4-6 months anti-HAV IgG appears early and persists lifelong
86
How is hep A managed?
Supportively + hydration
87
How long does it take to recover from hep A?
3-6 months
88
What protection does hep A IVIG offer?
6 months of protection, if given within 2-3 weeks of exposure
89
What is the worldwide prevalence of hep B carriage?
5%
90
How is hep B transmitted?
Perinatally, or horizontally via parenteral/sexual/environment
91
What is the risk of vertical transmission of hep B in HBeAg positive mothers?
70-90%
92
What are the possible outcomes of hep B infection?
Symptomatic acute hep B (resolves with immunity) | Asymptomatic chronic infection
93
How is chronic hep B infection defined?
HBsAg positive for at least 6 months
94
How many people with chronic hep B infection will get chronic liver disease as a result?
90%
95
What are the stages of chronic hep B infection?
Immune tolerance Immune clearance Residual non-replicative infection
96
What are the complications of chronic hep B infection?
Cirrhosis and hepatocellular carcinoma
97
In hep B, what does positive IgG and IgM core antibodies, surface antigen, and e antigen indicate?
Acute infection
98
In hep B, what does core antibody, surface antigen, and e antigen positivity indicate?
Chronic infection
99
How is hep B treated?
Interferon gamma Pegylated interferon Lamivudine, famiciclovir, adefovir
100
How many patients with hep B seroconvert with therapy?
50%
101
How is hep C transmitted?
blood products, occasionally vertical
102
How does hep C present?
Usually asymptomatic, but can lead to cirrhosis
103
How is hep C diagnosed?
Anti-HCV positive, HCV RNA positive in 2 consecutive samples
104
How is hep C managed?
Interferon alpha | Ribavirin
105
How many hep C patients seroconvert with therapy?
70%
106
What is the main cause of graft dysfunction following liver transplant?
Graft rejection
107
When does graft rejection in liver transplant commonly occur?
First 3 months
108
Which patients less commonly get liver graft rejection?
Children under 6 months, those receiving a live donor graft
109
How does late-acute liver graft rejection present?
Raised transaminases, fever, malaise, jaundice
110
How is late-acute liver graft rejection managed?
Pulsed steroids Increased calcineurin inhibitors Introduction of another immunosuppressant e.g. MMF Anti T cell antibodies
111
How is chronic liver transplant rejection defined?
Loss of >50% of bile ducts
112
When does chronic liver graft rejection occur?
6 weeks to 6 months post transplant
113
What are the complications of chronic liver graft rejection?
Biliary strictures Cholangitis Cholestasis
114
How is chronic liver graft rejection managed?
Optimise immunosuppression Dilatation of strictures Retransplantation if severe
115
What kind of infections are patients at risk of post-liver transplant?
up to 1 month post: bacterial or viral | 2-6 months post: viral e.g. CMV, EBV
116
What biliary complications can arise post liver transplant?
Cholangitis due to intrahepatic or extra hepatic strictures
117
What hepatic vascular complications can arise post liver transplant?
Hepatic artery, vein or portal vein stenosis or occlusion
118
What is post-liver-transplant lymphoproliferative disorder?
EBV-driven B cell proliferation, ranging from lymphohyperplasia to true lymphoma
119
When does post-liver-transplant lymphoproliferative disorder occur?
3-12 months post transplant
120
What are the risk factors for post-liver-transplant lymphoproliferative disorder?
EBV or CMV infection Younger age Immunosuppression
121
What are the long term toxicities of calcineurin inhibitors?
Nephrotoxicity Hypertension Neurotoxicity Hyperlipidaemia
122
What are the side effects of calcineurin inhibitors?
Hypertrichosis | Gum hyperplasia
123
What do calcineurin inhibitors do?
Inhibit production of cytotoxic T-lymphocytes and IL-2
124
How is Wilson disease inherited?
Autosomal recessive
125
What is the pathophysiology of Wilson disease?
Reduced synthesis of caeruloplasmin, the copper binding protein, leads to defective excretion of copper in bile, and accumulation of copper in the liver, brain, kidney and cornea
126
When does Wilson disease present?
Older children - rarely under 3
127
How does Wilson disease present?
Liver disease in younger children, neuropsychiatric features in older children
128
What are some extrahepatic features of Wilson disease?
Renal tubular dysfunction Vitamin D resistant rickets Haemolytic anaemia Sunflower cataracts
129
How is Wilson disease diagnosed?
``` Low serum caeruloplasmin and copper Increased urinary copper Kayser-Fleischer rings Elevated hepatic copper on liver biopsy Gene testing ```
130
How is Wilson disease treated?
Penicillamine or Trientine, which both promote urinary copper excretion Zinc reduces copper absorption Pyridoxine prevents peripheral neuropathy
131
What stool markers can be tested in inflammatory bowel disease?
Alpha-1-antitrypsin Faecal calprotectin MC+S
132
What is the value of stool markers in IBD?
Measure of mucosal inflammation
133
What FBC abnormality is often seen in Crohn's disease?
Leucocytosis
134
In which of Crohn's and UC is CRP more likely to be elevated?
Crohn's
135
Which infection can mimic inflammatory bowel disease and with which features?
Yersinia - colitis, erythema nodosum, and arthralgia | Also TB
136
What will the endoscopy findings be in UC?
Oedematous, hyperaemic and friable mucosa
137
What will the endoscopy findings be in Crohn's?
Aphthous or serpiginous ulcers, erythema, skip lesions, cobblestone mucosa
138
What is the name of the rare fatal lymphoma associated with IBD patients exposed to biologics or immunomodulators?
Hepatosplenic T cell lymphoma
139
What is coeliac disease?
A specific T-lymphocyte intolerance of gluten
140
Which conditions show elevated incidence of coeliac?
``` Down Turner T1DM Addison IgA ```
141
What is the gold standard for diagnosis of coeliac disease?
Small bowel biopsy
142
What will a small bowel biopsy show in coeliac disease?
Partial or complete villous atrophy Crypt hyperplasia Increased intraepithelial lymphocytes
143
What serology can be sent for coeliac disease?
Anti TTG IgA | Anti endomysial antibodies
144
Which HLA types are associated with coeliac disease?
HLA-DQ2 and HLA-DQ8
145
Which skin/mucosal features are associated with coeliac disease?
Dermatitis herpetiformis | Recurrent aphthous stomatitis
146
Which children should be screened for coeliac disease?
``` Autoimmune thyroid T1DM IBS Dermatitis herpetiformis 1st degree relative affected HLA matched siblings Monozygotic twins ```
147
What are the dietary sources of iron?
cereals, red meat, fresh fruit, green vegetables
148
Where is iron absorbed?
Proximal small bowel
149
What kind of anaemia does iron deficiency cause?
Hypochromic microcytic
150
What do iron studies show in IDA?
Low serum iron and high transferrin
151
What are the dietary sources of folate?
liver, green vegetables, cereals, orange, milk, yeast, mushrooms
152
Where is folate absorbed?
Proximal small bowel
153
What does folate deficiency cause?
Megaloblastic anaemia, poor weight gain, chronic diarrhoea, thrombocytopenia
154
How do you test for folate status?
Serum folate reflects recent changes | Red cell folate indicates total body stores
155
What are the dietary sources of vitamin B12?
Foods of animal origin
156
Where is B12 absorbed?
Terminal ileum
157
What facilitates B12 absorption?
Intrinsic factor
158
What lab abnormalities does B12 deficiency cause?
Megaloblastic anaemia | Increased methylmalonic acid in urine
159
What are the clinical features of B12 deficiency?
Glossitis Peripheral neuropathy Subacute combined degeneration of the cord Optic atrophy
160
What do you need to supplement B12 with, other than B12?
Folic acid
161
What are the dietary sources of zinc?
beef, liver, eggs, nuts
162
What are the clinical features of zinc deficiency?
``` Anaemia Growth retardation Periorofacial dermatitis Immune deficiency Diarrhoea ```
163
What is acrodermatitis enteropathica?
Autosomal recessive condition with impaired gut absorption of zinc
164
What are the clinical features of acrodermatitis enteropathica?
``` Those of zinc deficiency plus reddish tinted hair with alopecia Candidal infection Paronychia and dystrohpic nails Poor wound healing Ocular changes ```
165
What is the treatment for acrodermatitis enteropathica?
Zinc supplementation
166
What are the effects of vitamin A deficiency
``` Night blindness Poor growth Xerophthalmia Follicular hyperplasia Impaired resistance to infection ```
167
What are the effects of excess vitamin A?
``` Carotenaemia Hyperostosis with bone pain Hepatomegaly Alopecia Desquamation of palms Raised ICP in acute intoxication ```
168
What are the dietary sources of vitamin A?
Milk, fat, fruit and vegetables, eggs, liver
169
What function does vitamin E serve?
Antioxidant
170
What are the dietary sources of vitamin E?
Green vegetables and vegetable oil
171
What are the effects of vitamin E deficiency?
Ataxia Peripheral neuropathy Retinitis pigmentosa
172
How is abetalipoproteinaemia inherited?
Autosomal recessive
173
What is the pathophysiology of abetalipoproteinaemia?
Failure of chylomicron formation with impaired absorption of long-chain fats with fat retention in the enterocyte
174
How does abetalipoproteinaemia present?
Faltering growth Abdominal distension Foul smelling, bulky stools Symptoms of vit E deficiency
175
How is abetalipoproteinaemia diagnosed?
Low serum cholesterol Very low plasma triglycerides Acanthocytes on peripheral blood film Absence of betalipoprotein in the plasma
176
How is abetalipoproteinaemia treated?
Sub medium chain triglycerides for long chain, as these are absorbed via the portal vein rather than the thoracic duct High doses of fat soluble vitamins
177
What is vitamin D needed for?
Calcium homeostasis and bone growth
178
What are the sources of vitamin D?
fish oil, vegetable oil, skin synthesis by UVB light, egg yolks
179
What re the two main forms of vitamin D?
Ergocalciferol (D2) | Cholecalciferol (D3)
180
Where does ergocalciferol come from?
Irradiated fungi e.g. yeast
181
What has to happen to vitamin D to become active?
2 sequential hydroxylations - to 25-dydroxyvitamin D in the liver, then 1,25-dihydroxyvitamin D in the kidney
182
What are the clinical features of vitamin D deficiency?
``` Rickets Impaired bone growth and formation Bowing of long bones Enamel hypoplasia Kyphoscoliosis Pelvic deformity ```
183
What are the biochemical features of vitamin D deficiency?
Decreased calcium absorption Low plasma calcium High ALP Raised PTH
184
What is the most accurate measure of body vitamin D levels?
Serum 25-hydroxyvitamin D
185
What are the dietary sources of vitamin K?
cows' milk, green leafy vegetables, pork, very little in breast milk
186
What does vitamin K deficiency cause in newborns?
Haemorrhagic disease of the newborn
187
What are the clinical features of haemorrhagic disease of the newborn?
``` Bleeding from umbilical stump Haematemesis and melaena Epistaxis Excessive bleeding from puncture sites Intracranial bleeding ```
188
When does haemorrhagic disease of the newborn usually present?
Day 2 or 3
189
How is haemorrhagic disease of the newborn diagnosed?
Prolonged prothrombin and partial thromboplastin times | Normal thrombin time and fibrinogen
190
How does cow's milk protein intolerance present?
Vomiting, diarrhoea, colic, constipation | Less commonly: respiratory symptoms, dermatological, behavioural
191
How is cow's milk protein intolerance diagnosed?
Clinically - skin prick and IgE RAST not always helpful
192
How many children with cow's milk protein intolerance will be able to go back to a normal diet?
80-90% by third birthday
193
What causes sucrose-isomaltase deficiency?
Lack of enzyme required for hydrolysis of sucrose and alpha-limit dextrins in small intestine
194
What are the symptoms of sucrose-isomaltase deficiency?
Watery diarrhoea and/or faltering growth when complex carbohydrates are introduced; symptoms may be mild
195
How is sucrose-isomaltase deficiency diagnosed?
Reducing substances in stool negative, diagnosis is confirmed with stool chromatography
196
What are some acquired causes of disaccharide malabsorption?
Post-enteritis Post neonatal surgery Malnutrition Late-onset lactose intolerance
197
Which is more common, congenital or late-onset lactose intolerance?
Late-onset
198
What is the problem in late-onset lactose intolerance?
Deficiency of lactase (brush border enzyme)
199
How does late-onset lactose intolerance present?
Explosive stools
200
How is late-onset lactose intolerance diagnosed?
Stool chromatography, reducing substances in the stool
201
How is glucose-galactose malabsorption inherited?
Autosomal recessive
202
How does glucose-galactose malabsorption present?
Rapid-onset watery diarrhoea from birth
203
How is glucose-galactose malabsorption diagnosed?
Clinically, but reducing substances in stool will be positive. Responds to stopping glucose, and relapses when it's reintroduced.
204
How is glucose-galactose malabsorption treated?
Use fructose as main carbohydrate instead
205
What does hydrogen breath testing look for?
Carbohydrate malabsorption
206
How does hydrogen breath testing work?
Malabsorbed carbohydrate should pass to the colon and be metabolised by bacteria, releasing hydrogen gas which is absorbed and released in breath
207
How does congenital microvillous atrophy present?
Intractable diarrhoea with poor weight gain from birth; poor tolerance of even minimal enteral intake
208
What is the prognosis for congenital microvillous atrophy?
Poor survival rate with long term PN dependence. Can be cured by intestinal transplant
209
What is the pathophysiology of tufting enteropathy?
Primary intestinal epithelial dysplasia with presence of 'tufts' of extruding epithelial cells on biopsy
210
What is the prognosis in tufting enteropathy?
PN dependent in early life but intestinal function can improve with age
211
Which problems are associated with tufting enteropathy?
``` Choanal atresia Oesophageal disease Imperforate anus Short stature Delayed bone age Punctate keratitis ```
212
How is congenital chloride diarrhoea inherited?
Autosomal recessive
213
How does congenital chloride diarrhoea present?
Severe watery diarrhoea present at birth, history of polyhydramnios
214
What is the defect in congenital chloride diarrhoea?
Failure of chloride reabsorption in exchange for bicarbonate in the ileum
215
What are the lab findings in congenital chloride diarrhoea?
Serum sodium and chloride are low with metabolic alkalosis | Stool pH and chloride are high
216
How is congenital chloride diarrhoea treated?
Sodium and potassium chloride supplements
217
What is the prognosis for congenital chloride diarrhoea?
Good if diagnosed early
218
How is giardiasis diagnosed?
Stool examination for cysts or examination of duodenal aspirate on endoscopy
219
How is giardiasis treated?
Metronidazole
220
What faecal elastase level suggests exocrine pancreatic insufficiency?
<150ug/g
221
What might cause a false positive faecal elastics result?
Watery stool
222
How is Schwachman-Bodian-Diamond syndrome inherited?
Autosomal recessive
223
What is the gene for Schwachman-Bodian-Diamond syndrome?
7q11
224
What are the main features of Schwachman-Bodian-Diamond syndrome?
``` Pancreatic insufficiency Neutropenia Short stature Metaphyseal dysostosis Hepatic dysfunction Increased frequency of infections Haematological abnormalities ```
225
How does bowel bacterial overgrowth present?
Steatorrhoea and fat-soluble vitamin deficiency
226
What are the risk factors for bowel bacterial overgrowth?
``` Previous GI surgery Strictures Short bowel syndrome Loss of ileo-caecal valve Repeated courses of antibiotics ```
227
What is the first choice antibiotic for bowel bacterial overgrowth?
Metronidazole
228
What is the defect in intestinal lymphangiectasia?
Functional obstruction of lymph flow through the thoracic duct and into the IVC
229
How does intestinal lymphangiectasia present?
Fat malabsorption and protein-losing enteropathy
230
Intestinal lymphangiectasia can be secondary to which diseases?
Pancreatitis Pericarditis Post-fontan Malignancy
231
What will a small bowel biopsy show in intestinal lymphangiectasia?
Patchy areas of dilated lymphatics in absence of other pathology
232
What is the treatment for intestinal lymphangiectasia?
Medium chain triglycerides, which are absorbed directly into the portal vein
233
Is paediatric Crohn's more or less aggressive than adult?
More
234
Where in the gut does Crohn's affect?
Anywhere from mouth to anus
235
How common is stricturing/penetrating disease in Crohn's?
25% within 4 years of presentation
236
What are the features which are specific to Crohn's vs UC?
``` Panenteric Skip lesions Transmural Granulomas Perianal disease ```
237
What is the best intervention for remission induction in Crohn's?
EEN (exclusive enteral nutrition) with elemental or polymeric diet
238
What are the medication options for remission induction in Crohn's?
Steroids Infliximab Adalimumab
239
What is infliximab?
Chimeric monoclonal anti-TNF-antibody
240
What is the mechanism of action of infliximab?
Binds to soluble TNF alpha and its precursor, neutralising their actions
241
How might Crohn's patients become resistant to infliximab?
20% develop antibodies; can reduce the chance of this by also giving immunomodulators
242
What is adalimumab?
Monoclonal anti TNF alpha antibody
243
What are the side effects of anti TNF alpha antibodies?
``` Autoimmune like syndromes Malignancy Pancytopenia Liver dysfunction Eczema and psoriasis Heart failure Infusion and injection site reactions Neurological syndromes ```
244
What are the options for maintenance of Crohn's disease?
Immunomodulators Methotrexate Biologics
245
Which immunomodulators are used in Crohn's disease?
6-mercaptopurine, azathioprine
246
What might you want to test before starting 6-marcaptopurine in Crohn's disease?
TPMT activity - reduced in some, which can lead to metabolising to thioguanine instead of 6-MMP, which is toxic in excess
247
What are the side effects of methotrexate?
``` Nausea Anorexia Stomatitis Diarrhoea Headache Dizziness Fatigue Altered mood ```
248
What can reduce the side effects of methotrexate?
Folic acid supplementation
249
What are the features specific to UC vs Crohn's?
Colon only | Crypt abscesses
250
What are the first line drugs for mild/distal UC?
Oral and rectal sulfasalazine or mesalazine
251
What screening should children with UC have?
Endoscopies - higher risk of colonic malignancies
252
When is the peak incidence of intussusception?
6-9 months
253
Where does intussusception normally occur?
Ileocaecal
254
What is a Meckel diverticulum?
Remnant of the vitello-intestinal duct, which can contain ectopic gastric, pancreatic or colonic tissue
255
What scan helps diagnose a Meckel diverticulum?
Technetium scan
256
How can a Meckel diverticulum present?
Intermittent painless PR bleed, intussusception, perforation
257
How does polyposis usually present?
Painless rectal bleeding
258
How is Peutz Jeghers syndrome inherited?
Autosomal dominant
259
What are the features of Peutz Jeghers syndrome?
Diffuse GI hamartomas Hyperpigmentation of buccal mucosa and lips Increased risk of malignancy
260
How are Gardener syndrome and familial adenomatous polyposis coli inherited?
Both autosomal dominant
261
What is the mutation in Gardener syndrome and familial adenomatous polyposis coli?
APC gene on 5q21
262
What are the features of Gardener syndrome?
Adenomatous polyposis plus bony lesions, subcutaneous tumours and cysts
263
What is the management for Gardener syndrome and familial adenomatous polyposis coli?
Endoscopic surveillance, usually prophylactic colectomy at end of 2nd decade
264
What does Grolin syndrome cause?
Hamartomas
265
What does Turcot syndrome cause?
Multiple colorectal adenomas with primary brain tumour
266
What is Hirschsprung disease?
Absence of ganglion cells in the myenteric plexus of the distal bowel
267
How common is Hirschsprung disease?
1:5000; males more than females
268
Where is the gene for Hirschsprung?
Chromosome 10
269
Which syndrome is Hirschsprung particularly associated with?
Down
270
What is the definitive test for Hirschsprung?
Rectal biopsy
271
How is Hirschsprung treated?
Surgical - excision of affected area
272
How is Shwachman-Diamond syndrome inherited?
Autosomal recessive
273
What are the features of Shwachman-Diamond syndrome?
``` Marrow failure Recurrent infections Increased risk of myelodysplasia and malignant transformation Short stature Skeletal anomalies ```
274
What are the features of Johanson-Blizzard syndrome?
``` Pancreatic insufficiency due to fatty replacement GI anomalies e.g. imperforate anus Deafness Unusual whorls of tissue in scalp Absent nasal cartilage Hypothyroidism ```

MRCPCH Clinicals (17 decks)

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