Metabolic Medicine

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Work smart: MRCPCH Part 1 B

Question: 2 of 10 / Overall score: 70%
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The findings of K+ = 2.5 mmol/l (3.5-4.9) and HCO3 = 10.0

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mmol/l (20-28) are compatible with:
62.62%
Times answered
145
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True / False
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Primary hyperaldosteronism
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Renal tubular acidosis
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Urinary diversion into the colon
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Pancreatic fistula
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Respiratory failure
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Correct
Correct
Correct
Incorrect answer selected

Correct
Hypokalaemia, a decrease in the measured level of

potassium in the serum, may be caused by:
1.
Increased loss:
a) Renal: diuretic, Bartter Syndrome, hormonal

(Cushing's, hyperaldosteronism, thyrotoxicosis), or
renal tubular acidosis. The latter may be proximal
(complete bicarbonate loss Fanconi's Syndrome),
or distal (partial bicarbonate loss). Apart from renal
tubular acidosis, all the others are associated with
an alkalosis systematically.
b) Extra-renal loss: diarrhoea, laxative or enema
abuse, vomiting, biliary drainage, or
enterocutaneous fistulae. In addition, is the rare
familial hypokalaemic periodic paralysis.
c) Fluid shift: diabetic ketoacidosis. Most of the
latter groups are associated with acidosis.
2.
Decreased Intake: a) Hypokalaemia can also result from

decreased intake.
Copyright 2002 Dr Colin Melville

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64.52%

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Times answered
605
Nitric oxide:
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Is inactivated by oxygen free radicals

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Is increased by cyclic AMP activation.

Correct
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Is generated from glutamine

answer selected
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Is produced by both inducible and constitutive

forms of nitric oxide synthase
Correct
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Raises systemic vascular resistance

answer selected
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Incorrect
Incorrect
Nitric oxide is produced from l-arginine by nitric oxide

synthase and is produced by the vascular endothelium in
response to haemodynamic stress. It produces smooth
muscle relaxation and reduced vascular resistance.
Nitric oxide is a free radical and may be inactivated through
interaction with other oxygen free radicals, e.g. oxidised
LDL.
It causes the production of cGMP as a second messenger.
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A 7-year-old boy presents with tall stature. On

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investigation, his bone age is accelerated by one year.

The following should be considered:
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Marfan's syndrome
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Hyperthyroidism
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Congenital adrenal hyperplasia

answer selected
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Beckwith-Wiedemann syndrome
answer selected
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Precocious puberty
Incorrect answer
Correct
Incorrect
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Correct
The majority of tall children have a familial determinant for

it. Other causes include:
Hormonal
excess adrenal androgens
excess sex steroids
excess pituitary growth hormone (very rare)
hyperthyroidism.
Syndromes
Marfan's
homocystinuria
Klinefelter's
Sotos
Beckwith-Wiedemann syndrome.
In this case it would be unusual for congenital adrenal
hyperplasia to present so late, but in boys who are not salt
losers, a late presentation is possible.
Beckwith-Wiedemann syndrome can cause tall stature, but
presents in the neonatal period, not at seven years.
The accelerated bone age suggests a hormonal rather than
syndromic cause.
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69.64%
Times answered
139
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4
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63.72%

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Periarticular calcification is a recognised consequence of:
Times answered
183
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Chronic tophaceous gout
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Haemochromatosis
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Rotator cuff lesions of the shoulder

answer selected
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Renal osteodystrophy
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Mixed connective tissue disease
Correct
Correct
Incorrect
Correct
Correct
Metastatic calcification can occur for a variety of reasons,

particularly post-inflammation, metabolic, or tumour.
The pattern may be very helpful diagnostically.
Examples include:
Renal osteodystrophy causing cutaneous vascular

and visceral calcification
Tumours such as neuroblastoma, teratoma or
Wilm's
Thyroid medullary carcinoma
Retinoblastoma
Osteosarcoma
Enchondroma.
Post-inflammation causes include:
Dermatomyositis (tissue)
Constrictive pericarditis (pericardium)
Meconium peritonitis (peritoneum)
Chronic pancreatitis (pancreas).
Infections:
Tuberculosis
Varicella zoster (VZ) pneumonia
Parasitic infiltration of the liver
Intracranial calcification from Toxoplasma
Cytomegalovirus (CMV).
Metabolic causes:
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Basal ganglia calcification (hypoparathryoidism)

Mitochondrial myopathy, encephalopathy, lactic
acidosis, stroke-like episodes (MELAS)
Petrelli (Zellweger)
Metastatic (chronic nephritis)
Hyperparathyroidism
Idiopathic hypercalcaemia
Hypervitaminosis D
Adrenals (Addison's, post-haemorrhage, Wolman's)
Intracranial (osteopetrosis, Sturge-Weber).
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Questions
Which of the following syndromes are associated with glucose

intolerance?
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True / False
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Ataxia telangiectasia
Correct
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Cockayne Syndrome
selected
Incorrect answer
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Duchenne Muscular Dystrophy

answer selected
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Huntington's Chorea
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Prader-Willi Syndrome
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65.17%
Times answered
174
Average user rating

4
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Incorrect
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Correct
Correct
Glucose intolerance is relatively common in pregnancy, in

the premature, and in the obese. Secondary diabetes can
occur in chronic pancreatitis, acromegaly,
phaeochromocytoma or Cushing's Disease. It is also
associated with ataxia telangiectasia, Werner and Cockayne
Syndromes (associated with premature aging) and insulinresistance occurs in Prader-Willi Syndrome. It is also
associated with familial combined hyperlipidaemia, and
familial hypertriglyceridaemia.
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76.42%
Times answered
212
Microalbuminuria in diabetes mellitus:

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Improves with exercise.
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Can be completely reversed with improved

diabetic control.
Correct
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Is a marker of renovascular disease.

Correct
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Means the loss in urine of protein with a lower

molecular weight than albumin.
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Can be screened for using an early morning spot

sample of urine.
Correct
Correct
A critical stage in the development of diabetic renal disease

is the onset of microalbuminuria, defined as an albumin
excretion rate of 30-300mg per day. Albumin/Creatinine
ratio in a spot urine is a reasonable screening test for it.
Microalbuminuria predicts progression to renal failure and
early cardiovascular mortality in both Type 1 and Type 2
diabetes patients. Microalbuminuria is associated with
constellation of other risk factors for small and large vessel
damage which includes raised blood pressure, poor
glycaemic control, plasma lipid and clotting factor
abnormalities, left ventricular hypertrophy, and insulin
resistance. Treatment with ace inhibitors corrects
albuminuria and prevents progression to persistent
proteinuria. Blood glucose control significantly reduces the
risk of progression from normal albuminuria to
microalbuminuria. The treatment of microalbuminuria
appears highly cost beneficial and substantially increases
life expectancy. All diabetic patients aged 12-70 years
should be screened and the development of
microalbuminuria should alert the physician to set in motion
a programme of assessment, monitoring and correction of
all risk factors for renal and cardiovascular disease.
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Which of the following may be responsible for a hypokalaemic

alkalosis?
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feeds that are too concentrated
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congenital pyloric stenosis
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cystic fibrosis
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previous urinary diversion

selected
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renal failure
Correct
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Correct
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Incorrect answer
Metabolic alkalosis with hypokalemia is seen in pyloric stenosis

because of the loss of stomach acid with K and HCl, and cystic
fibrosis as in pseudo Bartter syndrome. Renal failure and urinary
diversion cause metabolic acidosis. Bartter syndrome is a form
of renal K wasting with elevated renin and aldosterone, the K is
usually <2.5.
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74.16%
Times answered
185
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4
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27%
3%
16%
14%
40%
A 2 month old baby is admitted with seizures and failure to

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thrive. Follwoing a seizure he is found to have a blood

glucose concentration of 1.2 mmol/L (3.0-6.0). Other
biochemistry reveals a lactic acidosis and hyperlipidaemia.
Community
What is the most likely diagnosis?

(Please select 1 option)
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Times answered
167
Examination reveals hepatomegaly with palpable kidneys.
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Gaucher's disease
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McArdle's disease
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Niemann-Pick disease
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Pompe Disease
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Von Gierke disease
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4
Correct
This baby has hypoglycaemia accounting for fits, associated

with lactic acidosis and hepatomegaly which would point to
a diagnosis of von Gierke's disease. This is a glycogen
storage disease due to deficiency of glucose-6phosphatase. Glycogen is stored in both liver and kidney
causing enlargement. Both Gaucher and Niemann-Pick
disease are lipid storage disorders. McArdle's disease is a
glycogen storage disease affecting muscle rather than liver
as is Pompe's disease. Neither would be expected to
produce profound hypoglycaemia.
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6%
22%
22%
9%
42%
Which one of the following is true regarding protein metabolism?

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There are 5 essential amino acids.
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The absence of any of the essential amino acids results

in a negative nitrogen balance
This is the correct
answer
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Protein constitutes about 30-45% of total daily calorie

intake in infants and children
Incorrect answer
selected
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Essential amino acids can be synthesized in the liver

and kidneys
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Human milk as the only food provides an insufficient

source of protein for a 1-year-old healthy infant
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Times answered
178
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There are 9 essential amino acids; all are required to maintain

nitrogen balance. Carbohydrates constitute 30-45% of total
caloric intake in children. Essential amino acids cannot be
synthesised and must be obtained from the diet. Human milk
contains the proteins casein, lactoglobulin and lactalbumin,
which provide a sufficient source of protein.
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Glucose-6-phosphate dehydrogenase deficiency:
81.80%
Times answered
200
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True / False
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Causes drug-induced haemolysis
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Is an indication for splenectomy
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Is inherited as a sex-linked condition

Correct
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Is more pronounced in mature red blood cells

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Is not clinically manifest in girls
Correct
Correct
Correct
Drugs which cause haemolysis include
aspirin
antimalarials
antibacterials
sulphonamides.
Splenectomy is not helpful in the management of this
condition.
Young red blood cells have near normal enzymatic capacity.
G6PDH deficiency is X-linked recessive. It can manifest in
females if there are two copies of the abnormal gene, or if
Lyonisation results in one gene being expressed, or if the
mutation leads to an inhibitor of G6PD rather than a
deficiency.
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Respiratory and metabolic acidosis both exist in a
66.28%
Times answered
172
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True / False
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Preterm infant with hyaline membrane disease

Correct
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Term infant with meconium aspiration

syndrome
Correct
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One-week-old infant early in presentation of

cyanotic congenital heart disease
Incorrect
answer selected
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One-month-old infant with diarrhoea

Correct
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Two-year-old child with acute salicylate

overdose
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Severe respiratory disease associated with hypoxia can lead

to metabolic acidosis, as in HMD and MAS.
An infant with diarrhoea may get metabolic acidosis, but
not respiratory, as can an infant with CCHD.
In acute salicylate overdose there is respiratory alkalosis,
with later metabolic acidosis (this also occurs in chronic
poisoning).
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10%
30%
24%
16%
20%
At 2 months of age a boy is referred with abdominal mass.

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This has been found at the routine 6 week surveillance

review. He was born at term weighing 3.7 kg, and the
parents were first cousins.
Times answered
285
Community
On examination he has low-set ears, frontal bossing, a

Help
depressed nasal bridge and long philtrum. He has 4 cm

hepatomegaly and 3 cm splenomegaly. He has poor head
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control. Although he smiled at 6 weeks he has not made

further developmental progress.
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Hunter syndrome
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Hurler syndrome
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Gangliosidosis
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San Filippo syndrome
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Zellweger syndrome
This is the correct answer
The consanguinity, dysmorphic features,

hepatosplenomegaly and developmental arrest suggest a
storage disease. These include lipidoses,
mucopolysaccharidoses and glycogenoses.
In this case the features are most characteristic of infantile
GM1 Gangliosidosis, 50% of whom have a macular cherry
red spot.
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1%
6%
2%
84%
7%
A 15 month old girl presents with a generalised convulsion

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lasting 8 minutes. She has previously been well and

apyrexial, though she drinks about 3 litres/day of dilute
juice. She was born at 37+4/40 weighing 3.9kg and there
Community
were no neonatal problems.
Help
On examination she is apyrexial but remains drowsy. She is

on the 75% for height and weight. Respiratory rate is
Shop
20/min and pulse is 100/min. There are no specific

abnormalities to find. BM stix is 4.5 mmol/l.
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Drug ingestion
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Hypocalcaemia
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Hypoglycaemia
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Hyponatraemia
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Idiopathic epilepsy
Correct
She has had an afebrile generalised seizure. The history of

polydipsia makes hyponatraemia the likely diagnosis. A large
number of electrolyte disturbances can cause fits including
hypoglycaemia, hyponatraemia, hypocalcaemia and
hypomagnesaemia.
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Times answered
257
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51.53%
Times answered
273
Theme: Storage disorders.

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GM1 Gangliosidosis
Hunter syndrome
Hurler syndrome
I-cell syndrome
Marfan syndrome
Moroteaux-Lamy syndrome
Morquio syndrome
Average user rating

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H Sanfilippo syndrome
I
Scheie syndrome
For each scenario choose the most likely diagnosis:

A 2-year-old girl presents with coarse facies, stiff joints, mental
retardation and cloudy corneas.
Hunter syndrome
Incorrect - The correct answer is Hurler syndrome
In the 2-year-old girl there is MR, coarse facies and cloudy

corneas, and this suggests Hurler's.
A 4-year-old boy presents with coarse facies, stiff joints, short

stature and clear corneas.
Morquio syndrome
Incorrect - The correct answer is Hunter syndrome
In the 4-year-old boy there is coarse facies, no MR and clear

corneas, characteristic of Hunter's.
A 3-year-old girl presents with mild coarse facies, severe kyphosis,

knock knees and cloudy corneas.
Scheie syndrome
Incorrect - The correct answer is Morquio syndrome
In the 3-year-old girl there is no MR, but coarse facies and

severe joint involvement, suggesting Morquio syndrome.
The mucopolysaccharidoses are a group of disorders

associated with deposition of abnormal metabolites in the
tissues, principally the liver, brain and joints. The specific
manifestations depend on the precise defect.
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53.86%
Times answered
328
Theme: Abdominal pain.

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Abdominal migraine
Familial Mediterranean fever
Gastro-oesophageal reflux
Giardiasis
Inflammatory bowel disease
Meckel's diverticulum
Pancreatitis
Average user rating

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H Peptic ulcer disease

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Recurrent abdominal pain of childhood
For each scenario choose the most likely diagnosis:
A 9 month old boy presents with abdominal pain and black

offensive stools. On examination he appears pale.
Meckel's diverticulum
Correct
In the 9 month old boy the major symptom is melaena. The

pallor suggests significant bleeding. At this age the most likely
diagnosis is Meckel's diverticulum.
A 12-year-old girl presents with a 1 year history of central

abdominal pain lasting 1-3 hours at a time.
Abdominal migraine
Incorrect - The correct answer is Recurrent abdominal pain of

childhood
The 12-year-old girl suggests recurrent abdominal pain of

childhood . In abdominal migraine there may be specific
precipitants, and associated headache and a family history.
A 3-year-old boy presents with a 3 day history of fever, abdominal

pain and pain and swelling of knees and ankles. He has had two
similar episodes in the past. On examination he has a 3cm liver.
Familial Mediterranean fever
Correct
The 3-year-old boy has recurrent episodes of abdominal pain,

fever and arthritis. There is hepatomegaly. All these point to
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Familial Mediterranean Fever.
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40%
10%
2%
2%
46%
A 17-year-old male who appears tall and thin for his age,
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presents with a high arch palate, chest wall deformities and

livedo reticularis. Which of the following is also associated
with this syndrome?
Times answered
135
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Autosomal Dominance
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Methionine accumulation
answer
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Osteopetrosis
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Positive Guthrie test
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Upward dislocation of the lens

This is the correct
This syndrome is most likely to be homocystinuria. Marfan's

syndrome is associated with upward dislocation of the lens,
but not with livedo reticularis, which is seen in
Homocystinuria due to the venous thrombosis in the small
vessels of the skin. Homocystinuria is associated with
downward dislocation of the lens, and is an Autosomal
Recessive disorder. Osteoporosis, and not osteopetrosis is
seen in homocystinuria. A positive Guthrie testis associated
with Phenylketonuria. Reduced activity of cystathionine synthase results in accumulation of homocysteine and
methionine, interfering with collagen cross-linking, which is
the cardinal feature of Homocystinuria.
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Question: 7 of 7
The following findings suggest a diagnosis of Pompe's Disease
Questions Total
rather than Von Gierke's Disease:

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14
True / False
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3cm liver
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Infantile onset
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Hypotonia
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Hypertrophic cardiomyopathy
i
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n
j
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n
Absence of hypoglycaemia
Overall Score
Correct
Correct
78.0%
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Correct
Correct
Correct
Von Gierke's Disease (glucose-6 phosphatase deficiency) has infant

onset, with liver enlargement, growth failure, and hypoglycaemia. It
is treated with long-acting carbohydrates, and the prognosis is
good. Pompe's Disease (lysosomal a-glucosidase deficiency), again
has infant onset, with a lesser degree of liver enlargement than Von
Gierke's Disease, but a predominant effect on muscle. This results
in hypotonia, a hypertrophic cardiomyopathy, and death from heart
failure.
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- MRCPCH Part 1 B
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Question: 6 of 7
Recognised features of distal RTA are:
Questions Total
True / False
13
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i
j
k
l
m
n
j
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l
m
n
Hypokalaemia
i
j
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l
m
n
j
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m
n
Nephrocalcinosis
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n
i
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n
Inability to reduce urine below 7
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n
i
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n
Inability to form ammonia in distal tubular cells

Correct
i
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n
j
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n
More severe manifestations than proximal RTA

Correct
Overall Score
Correct
Correct
Distal RTA results from a deficiency of hydrogen iron secretion by

the distal tubular and collecting duct. There is decreased formation
of carbonic acid then carbon dioxide, resulting in a loss of
bicarbonate of up to 10% of the filtered load. The pH of the urine
cannot be reduced below 5.8, and there is secondary
hyperchloraemia and hypokalaemia. Because less bicarbonate is
wasted in distal and proximal RTA, the hypokalaemia is less severe.
Nephrocalcinosis and nephrolithiasis may occur.
Aetiology:
1.
Primary: Sporadic or AD or AR.
2.
Secondary:
a) Intestinal nephritis (obstructive, pyelonephritis, transplant

rejection, sickle cell disease, medullary sponge kidney).
b) Toxins (amphotericin, lithium, toluene)
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Question: 5 of 7
In relation to Maple Syrup Urine Disease:
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j
k
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m
n
i
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n
It may present with prolonged jaundice.
i
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n
It usually presents with severe metabolic acidosis,

hypoglycaemia and seizures.
Correct
j
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n
i
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n
The urine has a characteristic fishy smell.
i
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n
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There is increased excretion of branch chain amino acids

in the urine.
Correct
i
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There is a high risk of early death during acute illnesses.

Correct
Correct
Correct
Maple Syrup Urine Disease usually presents with severe metabolic

acidosis, hypoglycaemia, and seizures. There is increased excretion
of the branch chain amino acids, leucine, isoleucine and valine,
resulting in a characteristic maple syrup smell in the urine. Delayed
diagnosis can result in learning difficulties and neurological
dysfunction, and acute illnesses may precipitate a rapid decline.
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76.1%
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Question: 3 of 7
Which of the following enzyme defects is associated with a
Questions Total
characteristic body odour?

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j
k
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n
Phenylalanine aminotransferase
Overall Score
j
k
l
m
n
Galactose0-phosphate-uridyltransferase
71.3%
j
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m
n
Ornithine transcarbamylase deficiency
j
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l
m
n
Fumaryl acetoacetase
i
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n
Branched chain ketoacid decarboxylase
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The following inborn errors of amino acid metabolism are associated

with abnormal odours: Glutaric acidaemia type II (sweaty feet),
hawkinsinuria (swimming pool), isovaleric acidaemia (sweaty feet),
maple syrup urine disease (maple syrup), methionine malabsorption
(cabbage), multiple carboxylase deficiency (tomcat urine),
oasthouse urine disease (hops-like), phenylketonuria (mousy or
musty), trimethylaminuria (rotting fish), tyrosinaemia (rancid, fishy
or cabbage-like). In addition, ketones may be smelt in diabetic
ketoacidosis, and some intermediary disorders of fatty acid
metabolism can result in fishy smells. The general rule is that if a
child smells peculiar he requires a metabolic work-up.
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Question: 1 of 7
Theme: Abnormal eye movements.
Questions Total
Albinism
Cataract
Coloboma
Congenital nystagmus
Hyperbilirubinaemia
Lactic acidosis
Ocular dysmetria
Overall Score
64.1%
H Opsoclonus
I
Spasmus nutans
For each scenario choose the most likely diagnosis.

A 9-month-old boy presents with abnormal eye appearance. His right eye
has a 'keyhole'-like appearance, and he has limited fixation with that eye.
Coloboma
Correct
The 9-month-old has a coloboma. This is usually isolated, but can be

part of CHARGE syndrome.
From birth, a 6-month-old girl has been noted to have rhythmic oscillation of
both eyes. She tends to tilt her head.
Albinism
Incorrect - The correct answer is Congenital nystagmus
The 6-month-old has nystagmus. This may be congenital, associated

with head tilting, or sensory, related to impaired vision.
A 15-month-old child presents with fever and decreased conscious level. On

examination he has chaotic conjugate eye movements.
Ocular dysmetria
Incorrect - The correct answer is Opsoclonus
The 15-month-old has opsoclonus, which can complicate encephalitis

(as here), hydrocephalus or be a presenting feature of neuroblastoma.
In considering abnormal eye movements the key questions are
age of onset
whether neurological or visual impairment are present
whether eye movements are rhythmic.
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Work smart: MRCPCH Part 1 B

The findings of K+ = 2.5 mmol/l (3.5-4.9) and HCO3 = 10.0

mmol/l (20-28) are compatible with:

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Renal tubular acidosis

Urinary diversion into the colon

Incorrect answer selected

Hypokalaemia, a decrease in the measured level of

a) Renal: diuretic, Bartter Syndrome, hormonal

Decreased Intake: a) Hypokalaemia can also result from

Copyright 2002 Dr Colin Melville

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Work smart: MRCPCH Part 1 B

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Is inactivated by oxygen free radicals

Is increased by cyclic AMP activation.

Is generated from glutamine

Is produced by both inducible and constitutive

Raises systemic vascular resistance

Nitric oxide is produced from l-arginine by nitric oxide

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Work smart: MRCPCH Part 1 B

A 7-year-old boy presents with tall stature. On

investigation, his bone age is accelerated by one year.

Congenital adrenal hyperplasia

The majority of tall children have a familial determinant for

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Work smart: MRCPCH Part 1 B

Periarticular calcification is a recognised consequence of:

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Chronic tophaceous gout

Rotator cuff lesions of the shoulder

Mixed connective tissue disease

Metastatic calcification can occur for a variety of reasons,

Renal osteodystrophy causing cutaneous vascular

Basal ganglia calcification (hypoparathryoidism)

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Work smart: MRCPCH Part 1 B

Which of the following syndromes are associated with glucose

Duchenne Muscular Dystrophy

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Glucose intolerance is relatively common in pregnancy, in

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Work smart: MRCPCH Part 1 B

Microalbuminuria in diabetes mellitus:

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Improves with exercise.

Can be completely reversed with improved

Is a marker of renovascular disease.

Means the loss in urine of protein with a lower

Can be screened for using an early morning spot

A critical stage in the development of diabetic renal disease

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Work smart: MRCPCH Part 1 B

Which of the following may be responsible for a hypokalaemic

feeds that are too concentrated

congenital pyloric stenosis

previous urinary diversion

Incorrect answer selected

Incorrect answer selected

Metabolic alkalosis with hypokalemia is seen in pyloric stenosis

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