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MRCPCH Clinicals > Abdominal > Flashcards

Abdominal Flashcards

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
Q

What is Crigler-Najjar type II?

A

Moderate UGT deficiency

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26
Q

What is Crigler-Najjar type 1?

A

Severe UGT deficiency

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27
Q

How are Gilbert and Crigler-Najjar inherited?

A

Autosomal recessive, although Gilbert and Crigler-Najjar type II can be autosomal dominant

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28
Q

How is Alagille syndrome inherited?

A

Autosomal dominant

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29
Q

What are the features of Alagille syndrome?

A 
Intrahepatic biliary hypoplasia
Facial dysmorphism
Cardiac defects
Renal abnormalities
Butterfly vertebrae
Ocular anomalies
Pancreatic insufficiency
Craniosynostosis
Neurovascular abnormalities
Delayed gross motor milestones
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30
Q

What are the facial features of Alagille?

A 
Wide forehead
Deep set eyes
Long straight eyes
Prominent chin
Small, low-set ears
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31
Q

What are the cardiac defects of Alagille?

A

Peripheral pulmonary artery stenosis
Right sided defects
Septal defects

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32
Q

What are the ocular anomalies in Alagille?

A

Posterior embryotoxon, causing peripheral corneal opacification

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33
Q

What are the neurovascular abnormalities in Alagille?

A

Basilar artery anomalies and others

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34
Q

What are the genes associated with Alagille?

A

JAG1 on 20p12 and the NOTCH2 gene

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35
Q

How does Alagille syndrome present?

A 
Neonatal jaundice
Cholestasis
Pruritus
Xanthomata
Failure to thrive
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36
Q

What is the prognosis in Alagille?

A

50% regain normal liver function by adolescence; 15% need transplant

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37
Q

How is Alagille managed?

A 
Urso (increases volume of bile)
Cholestyramine (bile acid sequestrant)
Rifampicin and naltrexone for itching
Surgery
Transplant
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38
Q

What surgeries can be done for Alagille?

A

Partial external biliary diversion

Ileal exclusion

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39
Q

What are the general features of progressive familial intrahepatic cholestasis?

A

Presents with neonatal hepatitis, pruritus, faltering growth and progressive liver disease needing transplantation in the first few years of life

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40
Q

What is type 1 progressive familial intrahepatic cholestasis also known as?

A

Byler disease

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41
Q

What causes Byler disease?

A

Mutation of FIC1 gene on 18q21-22

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42
Q

What are the features of Byler disease?

A

Pancreatitis
Persistent diarrhoea
Short stature
Sensorineural hearing loss

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43
Q

What will investigations show in Byler disease?

A

Normal GGT and cholesterol
Elevated serum bile salts and sweat chloride
Low chenodeoxycholic acid in bile

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44
Q

What causes type 2 progressive familial intrahepatic cholestasis?

A

Mutations on chromosome 2q24, the bile salt export pump gene

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45
Q

What will the GGT be in type 2 progressive familial intrahepatic cholestasis?

A

Normal

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46
Q

What causes type 3 progressive familial intrahepatic cholestasis?

A

Mutations in the P-glycoprotine MDR-3 gene (ABCB4)

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47
Q

What are the lab findings in type 3 progressive familial intrahepatic cholestasis?

A

Elevated GGT

Bile phospholipids 15% normal

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48
Q

How is Alpha1-antitrypsin deficiency inherited?

A

Autosomal recessive

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49
Q

What causes Alpha1-antitrypsin deficiency liver disease?

A

PiZZ phenotype of the protease inhibitor on chromosome 14

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50
Q

When might Alpha1-antitrypsin levels be normal in Alpha1-antitrypsin deficiency and why?

A

Inflammatory illnesses - because it is an acute phase reactant

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51
Q

What does Alpha1-antitrypsin do?

A

Neutralises neutrophil elastase and prevents inflammation and tissue damage in the lung

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52
Q

How does Alpha1-antitrypsin deficiency cause liver disease?

A

Abnormal folding of the mutated alpha-1-antitrypsin molecule causes it to become trapped in the endoplasmic reticulum

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53
Q

How does Alpha1-antitrypsin deficiency liver disease present?

A 
Prolonged neonatal conjugated jaundice
Acholic stools
Bleeding due to vit K deficiency
Hepatomegaly
Splenomegaly develops with cirrhosis and portal hypertension
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54
Q

What is the prognosis of Alpha1-antitrypsin deficiency?

A

50% good prognosis, the others develop liver disease and need transplantation

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55
Q

How is tyrosinaemia type 1 inherited?

A

Autosomal recessive -gene is located on chromosome 15

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56
Q

What is the pathophysiology of tyrosinaemia type 1?

A

Deficiency of fumarlyacetoacetate hydroxylase, which prevents metabolism of tyrosine - toxic metabolites then accumulate and damage the liver, kidneys, heart and brain

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57
Q

How does tyrosinaemia type 1 present?

A

Infants with acute liver failure

Older children with chronic lung disease

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58
Q

How is tyrosinaemia type 1 diagnosed?

A

Succinylacetone in the urine
Increased plasma tyrosine, phenylalanine, and methionine
Newborn screening

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59
Q

How is tyrosinaemia type 1 managed?

A

Low protein diet
Vitamin D
Nitisinon which prevents formation of toxic metabolites, reverses damage

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60
Q

How is hereditary fructose intolerance inherited?

A

Autosomal recessive - abnormal gene is on chromosome 9

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61
Q

What causes the fructose intolerance in hereditary fructose intolerance?

A

The affected gene codes for fructose-bisphosphate aldolase, which catalyses the cleavage of fructose

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62
Q

How does hereditary fructose intolerance present?

A 
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
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63
Q

What will lab tests show in hereditary fructose intolerance?

A 
Fructosaemia
High bili and magnesium
Low phosphate
Glycosuria
Phosphaturia
Bicarbonaturia
High urinary pH
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64
Q

How is hereditary fructose intolerance managed?

A

Avoiding fructose and fasting, particularly during febrile episodes

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65
Q

What are some complications of chronic hepatitis?

A 
Hypersplenism
Encephalopathy
Oesophageal varices
Portal hypertension
Protein calorie malnutrition
Ascites
Thrombosis of portal vein
SBP
Coagulopathy
Hepatocellular carcinoma
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66
Q

What is the pathophysiology of hepatic encephalopathy?

A

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

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67
Q

What is the first stage of hepatic encephalopathy?

A

Prodrome: slow mentation, slight asterixis, minimal EEG change

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68
Q

What is the second stage of hepatic encephalopathy?

A

Impending compa - disorientation, drowsiness, slowing on EEG

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69
Q

What is the third stage of hepatic encephalopathy?

A

Stupor - very sleepy, confused, delirious, asterixis, grossly abnormal EEG

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70
Q

What is the fourth stage of hepatic encephalopathy?

A

Loss of consciousness, decorticate or decerebrate posturing, no asterixis, EEG shows delta waves and decreased amplitudes

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71
Q

How is hepatic encephalopathy managed?

A 
Decrease nitrogenous load to the bowel
Reduce bacterial production of ammonia in the colon
Review precipitating factors
Restrict protein
Consider BCAAs
Lactulose
Neomycin
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72
Q

What is TIPSS?

A

Can be used for vatical bleeding - a transjugular intrahepatic portosystemic stent shunt

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73
Q

What is the triad of hepatopulmonary syndrome?

A

Liver dysfunction
Intrapulmonary arteriovenous shunts
Arterial hypoxaemia

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74
Q

What are the features of hepatorenal syndrome?

A 
Oliguria
Factorial excretion of sodium <1%
Urine plasma:creatinine <10
Low GFR and raised creatinine
Absence of hypovolaemia
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75
Q

How is chronic hepatitis managed?

A 
Nutritional support
Vitamin supplementation
Sodium restriction
Dialysis 
Urso
Control of bleeding
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76
Q

Which antibodies might be present in autoimmune hepatitis?

A

Type 1: ANA, anti smooth muscle

Type 2: LKM-1

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77
Q

How is autoimmune hepatitis managed?

A

Steroids
Azathioprine
Liver transplant

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78
Q

What is the most common form of acute viral hepatitis?

A

Hep A

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79
Q

What kind of virus is hepatitis A?

A

Picornavirus - RNA

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80
Q

How does hep A spread?

A

Orofaecal

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81
Q

What is the incubation period for hep A?

A

2-6 weeks - infectivity begins during the prodromal phase, peaks at start of symptoms, then rapidly declines. Shedding can persist for 3 months

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82
Q

How does hep A present?

A

Usually asymptomatic, especially in younger people

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83
Q

What is the mortality rate for hep A and who is most at risk?

A

0.2-0.4% symptomatic cases, particularly <5 or >50 years

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84
Q

What are the complications of hep A?

A 
Liver failure
Prolonged cholestasis
Extrahepatic complications
Recurrent hepatitis
Neurological involvement e.g. GBS
Renal disease
Acute pancreatitis
Haematological disorders
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85
Q

How is hep A diagnosed?

A

Anti-HAV IgM indicates recent infection, peaks in acute illness and persists for 4-6 months
anti-HAV IgG appears early and persists lifelong

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86
Q

How is hep A managed?

A

Supportively + hydration

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87
Q

How long does it take to recover from hep A?

A

3-6 months

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88
Q

What protection does hep A IVIG offer?

A

6 months of protection, if given within 2-3 weeks of exposure

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89
Q

What is the worldwide prevalence of hep B carriage?

A

5%

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90
Q

How is hep B transmitted?

A

Perinatally, or horizontally via parenteral/sexual/environment

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91
Q

What is the risk of vertical transmission of hep B in HBeAg positive mothers?

A

70-90%

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92
Q

What are the possible outcomes of hep B infection?

A

Symptomatic acute hep B (resolves with immunity)

Asymptomatic chronic infection

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93
Q

How is chronic hep B infection defined?

A

HBsAg positive for at least 6 months

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94
Q

How many people with chronic hep B infection will get chronic liver disease as a result?

A

90%

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95
Q

What are the stages of chronic hep B infection?

A

Immune tolerance
Immune clearance
Residual non-replicative infection

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96
Q

What are the complications of chronic hep B infection?

A

Cirrhosis and hepatocellular carcinoma

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97
Q

In hep B, what does positive IgG and IgM core antibodies, surface antigen, and e antigen indicate?

A

Acute infection

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98
Q

In hep B, what does core antibody, surface antigen, and e antigen positivity indicate?

A

Chronic infection

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99
Q

How is hep B treated?

A

Interferon gamma
Pegylated interferon
Lamivudine, famiciclovir, adefovir

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100
Q

How many patients with hep B seroconvert with therapy?

A

50%

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101
Q

How is hep C transmitted?

A

blood products, occasionally vertical

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102
Q

How does hep C present?

A

Usually asymptomatic, but can lead to cirrhosis

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103
Q

How is hep C diagnosed?

A

Anti-HCV positive, HCV RNA positive in 2 consecutive samples

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104
Q

How is hep C managed?

A

Interferon alpha

Ribavirin

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105
Q

How many hep C patients seroconvert with therapy?

A

70%

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106
Q

What is the main cause of graft dysfunction following liver transplant?

A

Graft rejection

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107
Q

When does graft rejection in liver transplant commonly occur?

A

First 3 months

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108
Q

Which patients less commonly get liver graft rejection?

A

Children under 6 months, those receiving a live donor graft

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109
Q

How does late-acute liver graft rejection present?

A

Raised transaminases, fever, malaise, jaundice

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110
Q

How is late-acute liver graft rejection managed?

A

Pulsed steroids
Increased calcineurin inhibitors
Introduction of another immunosuppressant e.g. MMF
Anti T cell antibodies

111
Q

How is chronic liver transplant rejection defined?

A

Loss of >50% of bile ducts

112
Q

When does chronic liver graft rejection occur?

A

6 weeks to 6 months post transplant

113
Q

What are the complications of chronic liver graft rejection?

A

Biliary strictures
Cholangitis
Cholestasis

114
Q

How is chronic liver graft rejection managed?

A

Optimise immunosuppression
Dilatation of strictures
Retransplantation if severe

115
Q

What kind of infections are patients at risk of post-liver transplant?

A

up to 1 month post: bacterial or viral

2-6 months post: viral e.g. CMV, EBV

116
Q

What biliary complications can arise post liver transplant?

A

Cholangitis due to intrahepatic or extra hepatic strictures

117
Q

What hepatic vascular complications can arise post liver transplant?

A

Hepatic artery, vein or portal vein stenosis or occlusion

118
Q

What is post-liver-transplant lymphoproliferative disorder?

A

EBV-driven B cell proliferation, ranging from lymphohyperplasia to true lymphoma

119
Q

When does post-liver-transplant lymphoproliferative disorder occur?

A

3-12 months post transplant

120
Q

What are the risk factors for post-liver-transplant lymphoproliferative disorder?

A

EBV or CMV infection
Younger age
Immunosuppression

121
Q

What are the long term toxicities of calcineurin inhibitors?

A

Nephrotoxicity
Hypertension
Neurotoxicity
Hyperlipidaemia

122
Q

What are the side effects of calcineurin inhibitors?

A

Hypertrichosis

Gum hyperplasia

123
Q

What do calcineurin inhibitors do?

A

Inhibit production of cytotoxic T-lymphocytes and IL-2

124
Q

How is Wilson disease inherited?

A

Autosomal recessive

125
Q

What is the pathophysiology of Wilson disease?

A

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
Q

When does Wilson disease present?

A

Older children - rarely under 3

127
Q

How does Wilson disease present?

A

Liver disease in younger children, neuropsychiatric features in older children

128
Q

What are some extrahepatic features of Wilson disease?

A

Renal tubular dysfunction
Vitamin D resistant rickets
Haemolytic anaemia
Sunflower cataracts

129
Q

How is Wilson disease diagnosed?

A 
Low serum caeruloplasmin and copper
Increased urinary copper
Kayser-Fleischer rings
Elevated hepatic copper on liver biopsy
Gene testing
130
Q

How is Wilson disease treated?

A

Penicillamine or Trientine, which both promote urinary copper excretion
Zinc reduces copper absorption
Pyridoxine prevents peripheral neuropathy

131
Q

What stool markers can be tested in inflammatory bowel disease?

A

Alpha-1-antitrypsin
Faecal calprotectin
MC+S

132
Q

What is the value of stool markers in IBD?

A

Measure of mucosal inflammation

133
Q

What FBC abnormality is often seen in Crohn’s disease?

A

Leucocytosis

134
Q

In which of Crohn’s and UC is CRP more likely to be elevated?

A

Crohn’s

135
Q

Which infection can mimic inflammatory bowel disease and with which features?

A

Yersinia - colitis, erythema nodosum, and arthralgia

Also TB

136
Q

What will the endoscopy findings be in UC?

A

Oedematous, hyperaemic and friable mucosa

137
Q

What will the endoscopy findings be in Crohn’s?

A

Aphthous or serpiginous ulcers, erythema, skip lesions, cobblestone mucosa

138
Q

What is the name of the rare fatal lymphoma associated with IBD patients exposed to biologics or immunomodulators?

A

Hepatosplenic T cell lymphoma

139
Q

What is coeliac disease?

A

A specific T-lymphocyte intolerance of gluten

140
Q

Which conditions show elevated incidence of coeliac?

A 
Down
Turner
T1DM
Addison
IgA
141
Q

What is the gold standard for diagnosis of coeliac disease?

A

Small bowel biopsy

142
Q

What will a small bowel biopsy show in coeliac disease?

A

Partial or complete villous atrophy
Crypt hyperplasia
Increased intraepithelial lymphocytes

143
Q

What serology can be sent for coeliac disease?

A

Anti TTG IgA

Anti endomysial antibodies

144
Q

Which HLA types are associated with coeliac disease?

A

HLA-DQ2 and HLA-DQ8

145
Q

Which skin/mucosal features are associated with coeliac disease?

A

Dermatitis herpetiformis

Recurrent aphthous stomatitis

146
Q

Which children should be screened for coeliac disease?

A 
Autoimmune thyroid
T1DM
IBS
Dermatitis herpetiformis
1st degree relative affected
HLA matched siblings
Monozygotic twins
147
Q

What are the dietary sources of iron?

A

cereals, red meat, fresh fruit, green vegetables

148
Q

Where is iron absorbed?

A

Proximal small bowel

149
Q

What kind of anaemia does iron deficiency cause?

A

Hypochromic microcytic

150
Q

What do iron studies show in IDA?

A

Low serum iron and high transferrin

151
Q

What are the dietary sources of folate?

A

liver, green vegetables, cereals, orange, milk, yeast, mushrooms

152
Q

Where is folate absorbed?

A

Proximal small bowel

153
Q

What does folate deficiency cause?

A

Megaloblastic anaemia, poor weight gain, chronic diarrhoea, thrombocytopenia

154
Q

How do you test for folate status?

A

Serum folate reflects recent changes

Red cell folate indicates total body stores

155
Q

What are the dietary sources of vitamin B12?

A

Foods of animal origin

156
Q

Where is B12 absorbed?

A

Terminal ileum

157
Q

What facilitates B12 absorption?

A

Intrinsic factor

158
Q

What lab abnormalities does B12 deficiency cause?

A

Megaloblastic anaemia

Increased methylmalonic acid in urine

159
Q

What are the clinical features of B12 deficiency?

A

Glossitis
Peripheral neuropathy
Subacute combined degeneration of the cord
Optic atrophy

160
Q

What do you need to supplement B12 with, other than B12?

A

Folic acid

161
Q

What are the dietary sources of zinc?

A

beef, liver, eggs, nuts

162
Q

What are the clinical features of zinc deficiency?

A 
Anaemia
Growth retardation
Periorofacial dermatitis
Immune deficiency
Diarrhoea
163
Q

What is acrodermatitis enteropathica?

A

Autosomal recessive condition with impaired gut absorption of zinc

164
Q

What are the clinical features of acrodermatitis enteropathica?

A 
Those of zinc deficiency plus reddish tinted hair with alopecia
Candidal infection
Paronychia and dystrohpic nails
Poor wound healing
Ocular changes
165
Q

What is the treatment for acrodermatitis enteropathica?

A

Zinc supplementation

166
Q

What are the effects of vitamin A deficiency

A 
Night blindness
Poor growth
Xerophthalmia
Follicular hyperplasia
Impaired resistance to infection
167
Q

What are the effects of excess vitamin A?

A 
Carotenaemia
Hyperostosis with bone pain
Hepatomegaly
Alopecia
Desquamation of palms
Raised ICP in acute intoxication
168
Q

What are the dietary sources of vitamin A?

A

Milk, fat, fruit and vegetables, eggs, liver

169
Q

What function does vitamin E serve?

A

Antioxidant

170
Q

What are the dietary sources of vitamin E?

A

Green vegetables and vegetable oil

171
Q

What are the effects of vitamin E deficiency?

A

Ataxia
Peripheral neuropathy
Retinitis pigmentosa

172
Q

How is abetalipoproteinaemia inherited?

A

Autosomal recessive

173
Q

What is the pathophysiology of abetalipoproteinaemia?

A

Failure of chylomicron formation with impaired absorption of long-chain fats with fat retention in the enterocyte

174
Q

How does abetalipoproteinaemia present?

A

Faltering growth
Abdominal distension
Foul smelling, bulky stools
Symptoms of vit E deficiency

175
Q

How is abetalipoproteinaemia diagnosed?

A

Low serum cholesterol
Very low plasma triglycerides
Acanthocytes on peripheral blood film
Absence of betalipoprotein in the plasma

176
Q

How is abetalipoproteinaemia treated?

A

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
Q

What is vitamin D needed for?

A

Calcium homeostasis and bone growth

178
Q

What are the sources of vitamin D?

A

fish oil, vegetable oil, skin synthesis by UVB light, egg yolks

179
Q

What re the two main forms of vitamin D?

A

Ergocalciferol (D2)

Cholecalciferol (D3)

180
Q

Where does ergocalciferol come from?

A

Irradiated fungi e.g. yeast

181
Q

What has to happen to vitamin D to become active?

A

2 sequential hydroxylations - to 25-dydroxyvitamin D in the liver, then 1,25-dihydroxyvitamin D in the kidney

182
Q

What are the clinical features of vitamin D deficiency?

A 
Rickets
Impaired bone growth and formation
Bowing of long bones
Enamel hypoplasia
Kyphoscoliosis
Pelvic deformity
183
Q

What are the biochemical features of vitamin D deficiency?

A

Decreased calcium absorption
Low plasma calcium
High ALP
Raised PTH

184
Q

What is the most accurate measure of body vitamin D levels?

A

Serum 25-hydroxyvitamin D

185
Q

What are the dietary sources of vitamin K?

A

cows’ milk, green leafy vegetables, pork, very little in breast milk

186
Q

What does vitamin K deficiency cause in newborns?

A

Haemorrhagic disease of the newborn

187
Q

What are the clinical features of haemorrhagic disease of the newborn?

A 
Bleeding from umbilical stump
Haematemesis and melaena
Epistaxis
Excessive bleeding from puncture sites
Intracranial bleeding
188
Q

When does haemorrhagic disease of the newborn usually present?

A

Day 2 or 3

189
Q

How is haemorrhagic disease of the newborn diagnosed?

A

Prolonged prothrombin and partial thromboplastin times

Normal thrombin time and fibrinogen

190
Q

How does cow’s milk protein intolerance present?

A

Vomiting, diarrhoea, colic, constipation

Less commonly: respiratory symptoms, dermatological, behavioural

191
Q

How is cow’s milk protein intolerance diagnosed?

A

Clinically - skin prick and IgE RAST not always helpful

192
Q

How many children with cow’s milk protein intolerance will be able to go back to a normal diet?

A

80-90% by third birthday

193
Q

What causes sucrose-isomaltase deficiency?

A

Lack of enzyme required for hydrolysis of sucrose and alpha-limit dextrins in small intestine

194
Q

What are the symptoms of sucrose-isomaltase deficiency?

A

Watery diarrhoea and/or faltering growth when complex carbohydrates are introduced; symptoms may be mild

195
Q

How is sucrose-isomaltase deficiency diagnosed?

A

Reducing substances in stool negative, diagnosis is confirmed with stool chromatography

196
Q

What are some acquired causes of disaccharide malabsorption?

A

Post-enteritis
Post neonatal surgery
Malnutrition
Late-onset lactose intolerance

197
Q

Which is more common, congenital or late-onset lactose intolerance?

A

Late-onset

198
Q

What is the problem in late-onset lactose intolerance?

A

Deficiency of lactase (brush border enzyme)

199
Q

How does late-onset lactose intolerance present?

A

Explosive stools

200
Q

How is late-onset lactose intolerance diagnosed?

A

Stool chromatography, reducing substances in the stool

201
Q

How is glucose-galactose malabsorption inherited?

A

Autosomal recessive

202
Q

How does glucose-galactose malabsorption present?

A

Rapid-onset watery diarrhoea from birth

203
Q

How is glucose-galactose malabsorption diagnosed?

A

Clinically, but reducing substances in stool will be positive. Responds to stopping glucose, and relapses when it’s reintroduced.

204
Q

How is glucose-galactose malabsorption treated?

A

Use fructose as main carbohydrate instead

205
Q

What does hydrogen breath testing look for?

A

Carbohydrate malabsorption

206
Q

How does hydrogen breath testing work?

A

Malabsorbed carbohydrate should pass to the colon and be metabolised by bacteria, releasing hydrogen gas which is absorbed and released in breath

207
Q

How does congenital microvillous atrophy present?

A

Intractable diarrhoea with poor weight gain from birth; poor tolerance of even minimal enteral intake

208
Q

What is the prognosis for congenital microvillous atrophy?

A

Poor survival rate with long term PN dependence. Can be cured by intestinal transplant

209
Q

What is the pathophysiology of tufting enteropathy?

A

Primary intestinal epithelial dysplasia with presence of ‘tufts’ of extruding epithelial cells on biopsy

210
Q

What is the prognosis in tufting enteropathy?

A

PN dependent in early life but intestinal function can improve with age

211
Q

Which problems are associated with tufting enteropathy?

A 
Choanal atresia
Oesophageal disease
Imperforate anus
Short stature
Delayed bone age
Punctate keratitis
212
Q

How is congenital chloride diarrhoea inherited?

A

Autosomal recessive

213
Q

How does congenital chloride diarrhoea present?

A

Severe watery diarrhoea present at birth, history of polyhydramnios

214
Q

What is the defect in congenital chloride diarrhoea?

A

Failure of chloride reabsorption in exchange for bicarbonate in the ileum

215
Q

What are the lab findings in congenital chloride diarrhoea?

A

Serum sodium and chloride are low with metabolic alkalosis

Stool pH and chloride are high

216
Q

How is congenital chloride diarrhoea treated?

A

Sodium and potassium chloride supplements

217
Q

What is the prognosis for congenital chloride diarrhoea?

A

Good if diagnosed early

218
Q

How is giardiasis diagnosed?

A

Stool examination for cysts or examination of duodenal aspirate on endoscopy

219
Q

How is giardiasis treated?

A

Metronidazole

220
Q

What faecal elastase level suggests exocrine pancreatic insufficiency?

A

<150ug/g

221
Q

What might cause a false positive faecal elastics result?

A

Watery stool

222
Q

How is Schwachman-Bodian-Diamond syndrome inherited?

A

Autosomal recessive

223
Q

What is the gene for Schwachman-Bodian-Diamond syndrome?

A

7q11

224
Q

What are the main features of Schwachman-Bodian-Diamond syndrome?

A 
Pancreatic insufficiency
Neutropenia
Short stature
Metaphyseal dysostosis
Hepatic dysfunction
Increased frequency of infections
Haematological abnormalities
225
Q

How does bowel bacterial overgrowth present?

A

Steatorrhoea and fat-soluble vitamin deficiency

226
Q

What are the risk factors for bowel bacterial overgrowth?

A 
Previous GI surgery
Strictures
Short bowel syndrome
Loss of ileo-caecal valve
Repeated courses of antibiotics
227
Q

What is the first choice antibiotic for bowel bacterial overgrowth?

A

Metronidazole

228
Q

What is the defect in intestinal lymphangiectasia?

A

Functional obstruction of lymph flow through the thoracic duct and into the IVC

229
Q

How does intestinal lymphangiectasia present?

A

Fat malabsorption and protein-losing enteropathy

230
Q

Intestinal lymphangiectasia can be secondary to which diseases?

A

Pancreatitis
Pericarditis
Post-fontan
Malignancy

231
Q

What will a small bowel biopsy show in intestinal lymphangiectasia?

A

Patchy areas of dilated lymphatics in absence of other pathology

232
Q

What is the treatment for intestinal lymphangiectasia?

A

Medium chain triglycerides, which are absorbed directly into the portal vein

233
Q

Is paediatric Crohn’s more or less aggressive than adult?

A

More

234
Q

Where in the gut does Crohn’s affect?

A

Anywhere from mouth to anus

235
Q

How common is stricturing/penetrating disease in Crohn’s?

A

25% within 4 years of presentation

236
Q

What are the features which are specific to Crohn’s vs UC?

A 
Panenteric
Skip lesions
Transmural
Granulomas
Perianal disease
237
Q

What is the best intervention for remission induction in Crohn’s?

A

EEN (exclusive enteral nutrition) with elemental or polymeric diet

238
Q

What are the medication options for remission induction in Crohn’s?

A

Steroids
Infliximab
Adalimumab

239
Q

What is infliximab?

A

Chimeric monoclonal anti-TNF-antibody

240
Q

What is the mechanism of action of infliximab?

A

Binds to soluble TNF alpha and its precursor, neutralising their actions

241
Q

How might Crohn’s patients become resistant to infliximab?

A

20% develop antibodies; can reduce the chance of this by also giving immunomodulators

242
Q

What is adalimumab?

A

Monoclonal anti TNF alpha antibody

243
Q

What are the side effects of anti TNF alpha antibodies?

A 
Autoimmune like syndromes
Malignancy
Pancytopenia
Liver dysfunction
Eczema and psoriasis
Heart failure
Infusion and injection site reactions
Neurological syndromes
244
Q

What are the options for maintenance of Crohn’s disease?

A

Immunomodulators
Methotrexate
Biologics

245
Q

Which immunomodulators are used in Crohn’s disease?

A

6-mercaptopurine, azathioprine

246
Q

What might you want to test before starting 6-marcaptopurine in Crohn’s disease?

A

TPMT activity - reduced in some, which can lead to metabolising to thioguanine instead of 6-MMP, which is toxic in excess

247
Q

What are the side effects of methotrexate?

A 
Nausea
Anorexia
Stomatitis
Diarrhoea
Headache
Dizziness
Fatigue
Altered mood
248
Q

What can reduce the side effects of methotrexate?

A

Folic acid supplementation

249
Q

What are the features specific to UC vs Crohn’s?

A

Colon only

Crypt abscesses

250
Q

What are the first line drugs for mild/distal UC?

A

Oral and rectal sulfasalazine or mesalazine

251
Q

What screening should children with UC have?

A

Endoscopies - higher risk of colonic malignancies

252
Q

When is the peak incidence of intussusception?

A

6-9 months

253
Q

Where does intussusception normally occur?

A

Ileocaecal

254
Q

What is a Meckel diverticulum?

A

Remnant of the vitello-intestinal duct, which can contain ectopic gastric, pancreatic or colonic tissue

255
Q

What scan helps diagnose a Meckel diverticulum?

A

Technetium scan

256
Q

How can a Meckel diverticulum present?

A

Intermittent painless PR bleed, intussusception, perforation

257
Q

How does polyposis usually present?

A

Painless rectal bleeding

258
Q

How is Peutz Jeghers syndrome inherited?

A

Autosomal dominant

259
Q

What are the features of Peutz Jeghers syndrome?

A

Diffuse GI hamartomas
Hyperpigmentation of buccal mucosa and lips
Increased risk of malignancy

260
Q

How are Gardener syndrome and familial adenomatous polyposis coli inherited?

A

Both autosomal dominant

261
Q

What is the mutation in Gardener syndrome and familial adenomatous polyposis coli?

A

APC gene on 5q21

262
Q

What are the features of Gardener syndrome?

A

Adenomatous polyposis plus bony lesions, subcutaneous tumours and cysts

263
Q

What is the management for Gardener syndrome and familial adenomatous polyposis coli?

A

Endoscopic surveillance, usually prophylactic colectomy at end of 2nd decade

264
Q

What does Grolin syndrome cause?

A

Hamartomas

265
Q

What does Turcot syndrome cause?

A

Multiple colorectal adenomas with primary brain tumour

266
Q

What is Hirschsprung disease?

A

Absence of ganglion cells in the myenteric plexus of the distal bowel

267
Q

How common is Hirschsprung disease?

A

1:5000; males more than females

268
Q

Where is the gene for Hirschsprung?

A

Chromosome 10

269
Q

Which syndrome is Hirschsprung particularly associated with?

A

Down

270
Q

What is the definitive test for Hirschsprung?

A

Rectal biopsy

271
Q

How is Hirschsprung treated?

A

Surgical - excision of affected area

272
Q

How is Shwachman-Diamond syndrome inherited?

A

Autosomal recessive

273
Q

What are the features of Shwachman-Diamond syndrome?

A 
Marrow failure
Recurrent infections
Increased risk of myelodysplasia and malignant transformation
Short stature
Skeletal anomalies
274
Q

What are the features of Johanson-Blizzard syndrome?

A 
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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