Week 3 - F - Childhood Diseases Peer tutoring

Question 1

What is the gene that is mutated in cystic fibrosis?

Answer 1

CFTR on chromosome 7 - cystic fibrosis transmembrane regulator gene

Question 2

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

Answer 2

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

Question 3

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

Answer 3

Guthries test on day 5

Question 4

What else does guthrie’s test test for?

Answer 4

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

Question 5

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

Answer 5

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.

Question 6

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

Answer 6

Idiopathic thrombocytopenic purpura

Question 7

How does idiopathic thrombocytopenic purpura cause purpura?

Answer 7

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

Question 8

Projectile vomit and a hungry child? Usually right after feeding

Answer 8

Pyloric stenosis

Question 9

Karyotype 46XXY in boys Causes infertility What is this?

Answer 9

Kleinfelter’s syndrome

Question 10

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

Answer 10

Nephortic syndrome

Question 11

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

Answer 11

Down’s syndrome - karyotype = trisomy 21

Question 12

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

Answer 12

Henoch Schonlein Purpura - causes rash

Question 13

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?

Answer 13

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

Question 14

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

Answer 14

Below the age of 5

Question 15

What is the treatment of kawasaki disease?

Answer 15

IV aspirin and immunoglobulin

Question 16

What are the symptoms of KAWASAKI disease?

Answer 16

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Question 17

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

Answer 17

Turner’s syndrome

Question 18

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?

Answer 18

Henoch Schonlein Purpura

Question 19

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?

Answer 19

This is Nephrotic syndrome

Question 20

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

Answer 20

Pyloric stenosis

Question 21

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

Answer 21

Cystic fibrosis

Question 22

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

Answer 22

Sweat test - >60mmol/L

Question 23

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

Answer 23

Child has downs syndrome

Question 24

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

Answer 24

Heart failure secondary to VSD

Question 25

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

Answer 25

Turner's syndrome

Question 26

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

Answer 26

Rett's syndrome

Question 27

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

Answer 27

Regression - child starts to lose some of their abilities

Question 28

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?

Answer 28

Albinism - defect in gene that produces melanin

Question 29

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

Answer 29

This is Treacher Collins syndrome

Question 30

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

Answer 30

This is Goldenhar syndrome

Question 31

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

Answer 31

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

Question 32

What enzyme is deficient in phenylketonuria?

Answer 32

Phenylalanine hyrdoxylase on chromosome 1

Question 33

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

Answer 33

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

Question 34

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

Answer 34

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

Question 35

What are other signs of hirschsprung's disease?

Answer 35

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