Week 3 - F - Childhood Diseases Peer tutoring Flashcards

1
Q

What is the gene that is mutated in cystic fibrosis?

A

CFTR on chromosome 7 - cystic fibrosis transmembrane regulator gene

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2
Q

What are the signs and symptoms of cystic fibrosis? Which organism is common in cystic fibrosis?

A

Child will have steatorrhea Recurrent infections due to bronchiectasis - due to pseudomonas aerguinosa Nasal polyps and meconium ileus are also signs

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3
Q

What day of birth is cystic fibrosis tested for? WHat is the test name?

A

Guthries test on day 5

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4
Q

What else does guthrie’s test test for?

A

Sometimes/Chris/Cares/Poorly/Meanwhile/Mhairi/Is/Greatly/Happy S - sickle cell disease C - Cystic fibrosis C - Congenital hypothyroidism P - Phenylketonuria M - Maple syrup urine disease M - medium chain Acetylo CoA dehydrogenase deficiency I - isovaleric acidaemia G - Glutaric acid type 1 H - homoscystinuria

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5
Q

What is meconeum ileus? What do most child with this disease have?

A

Meconeum is the first bowel movement to pass in a child within 48 hours - it is a green stool Meconium ileus is a bowel obstruction that occurs when the meconium in your child’s intestine is even thicker and stickier than normal meconium, creating a blockage in a part of the small intestine called the ileum. Most infants with meconium ileus have a disease called cystic fibrosis.

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6
Q

What is the disease where antibodies begin attacking your platelets which cause palpable purple spots and can get bleeding? Cause is unkown

A

Idiopathic thrombocytopenic purpura

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7
Q

How does idiopathic thrombocytopenic purpura cause purpura?

A

When the platelts stop the blood from clotting can cause beleeding of small blood vessels leading to pupura on skin

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8
Q

Projectile vomit and a hungry child? Usually right after feeding

A

Pyloric stenosis

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9
Q

Karyotype 46XXY in boys Causes infertility What is this?

A

Kleinfelter’s syndrome

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10
Q

Disease usually diagnosed in children Causes preoteinuria, oedema, hyperlipidaemia and hypoalbuminaemia What is this?

A

Nephortic syndrome

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11
Q

Child with increased web space between big and second toe with a single palmar crease What is this and what is the karyotype?

A

Down’s syndrome - karyotype = trisomy 21

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12
Q

Child with tummy pain, peeing blood and palpable red spots Purpura usually over buttocks and extensor surfaces Usually is self limiting What is this?

A

Henoch Schonlein Purpura - causes rash

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13
Q

CRASH C - onjunctivitis R - ash A - denopathy (cervical mainly) S - strawberry tongue H - ands and feet erythema and then desquamation What is this and where does it tend to cause aneursyms?

A

Kawasaki’s disease - medium vessel vasculitis causing anuerysms at the cornary arteriess

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14
Q

Which age group is typically affected by Kawasaki’s disease?

A

Below the age of 5

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15
Q

What is the treatment of kawasaki disease?

A

IV aspirin and immunoglobulin

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16
Q

What are the symptoms of KAWASAKI disease?

A

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17
Q

Karyotype 46 X - only affects females Short stature, wide neck and delayed puberty What is this?

A

Turner’s syndrome

18
Q

5 year old boy presents with a symmetrical rash (over buttocks, extensor surfaces and ankles), red, swollen and tender knees: with vomiting and diarrhoea What is this?

A

Henoch Schonlein Purpura

19
Q

A 6 year old boy presents with swollen legs, scrotum and puffy eyes. On examination he is found to have preteinuria and hypercholesterolaemia. What is this?

A

This is Nephrotic syndrome

20
Q

A 2 week old boy presents with projectile vomiting, weigt loss, a palpable epigastric mass during feeding and visible persitalsis. What is this?

A

Pyloric stenosis

21
Q

Child with a defect in the DeltaF508 gene coding for CFTR?

A

Cystic fibrosis

22
Q

What does the sodium chloride on the sweat test have to be in cystic fibrosis?

A

Sweat test - >60mmol/L

23
Q

A child with Brushfield spots on the iris, low set ears and a prominent tongue What is this? What are brushfield spots?

A

Child has downs syndrome

24
Q

A 1 year old boy presents with hepatomegaly, tachycardia and tachypnoea and a harsh systolic murmur best heard over the lower left sternal edge?

A

Heart failure secondary to VSD

25
Q

On examination you notice girl has a webbed neck, broad chest,, wide spaced nipples and absent secondary characteristics What is this?

A

Turner’s syndrome

26
Q

80% of those affected have a mutation of the MECP2 gene on the X chromosome - therefore almost always seen in girls What is this?

A

Rett’s syndrome

27
Q

In rett’s sydrome, the child has normal growth before stage one where they rapidly slow down in the development What is stage 2?

A

Regression - child starts to lose some of their abilities

28
Q

Congenital disorder characterised by the complete or partial absence of pink in the skin Often associated by a number of eye problems Can burn in sun and see nystagmus in eyes What is this?

A

Albinism - defect in gene that produces melanin

29
Q

Abnormally drooping eyelids, microtia (sometimes acrotia), macrostomia (enlarged mouth) Gene mutation on chromosome 5 What is this?

A

This is Treacher Collins syndrome

30
Q

What condition is similar to treacher collins sydrome however only affects one side of the face? unilateral microtia

A

This is Goldenhar syndrome

31
Q

mutation of phenylalanine hydroxylase gene on chromosome 1 Detected by guthries test What are symptoms of this disease?

A

Phenylketonuria Fair hair, fits, eczema, musty urine, low IQ

32
Q

What enzyme is deficient in phenylketonuria?

A

Phenylalanine hyrdoxylase on chromosome 1

33
Q

(Loss of paternal contribution of long arm of chromosome 15) What is this and what are features?

A

This is Prader Willi syndrome Causes constant feeding required, hypogonadism, mental retardation, obesity

34
Q

MEconeum ileus can be a sign of cystic firbrosis in kids What else is it a sign of?

A

Hirschsprung’s disease is a rare condition that causes poo to become stuck in the bowels. It mainly affects babies and young children.

35
Q

What are other signs of hirschsprung’s disease?

A

Meconeum ileus for greater than 48hours Swollen belly Bile green vomit