Week 3 - F - Childhood Diseases Peer tutoring Flashcards
What is the gene that is mutated in cystic fibrosis?
CFTR on chromosome 7 - cystic fibrosis transmembrane regulator gene
What are the signs and symptoms of cystic fibrosis? Which organism is common in cystic fibrosis?
Child will have steatorrhea Recurrent infections due to bronchiectasis - due to pseudomonas aerguinosa Nasal polyps and meconium ileus are also signs
What day of birth is cystic fibrosis tested for? WHat is the test name?
Guthries test on day 5
What else does guthrie’s test test for?
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
What is meconeum ileus? What do most child with this disease have?
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.
What is the disease where antibodies begin attacking your platelets which cause palpable purple spots and can get bleeding? Cause is unkown
Idiopathic thrombocytopenic purpura
How does idiopathic thrombocytopenic purpura cause purpura?
When the platelts stop the blood from clotting can cause beleeding of small blood vessels leading to pupura on skin
Projectile vomit and a hungry child? Usually right after feeding
Pyloric stenosis
Karyotype 46XXY in boys Causes infertility What is this?
Kleinfelter’s syndrome
Disease usually diagnosed in children Causes preoteinuria, oedema, hyperlipidaemia and hypoalbuminaemia What is this?
Nephortic syndrome
Child with increased web space between big and second toe with a single palmar crease What is this and what is the karyotype?
Down’s syndrome - karyotype = trisomy 21
Child with tummy pain, peeing blood and palpable red spots Purpura usually over buttocks and extensor surfaces Usually is self limiting What is this?
Henoch Schonlein Purpura - causes rash
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?
Kawasaki’s disease - medium vessel vasculitis causing anuerysms at the cornary arteriess
Which age group is typically affected by Kawasaki’s disease?
Below the age of 5
What is the treatment of kawasaki disease?
IV aspirin and immunoglobulin
What are the symptoms of KAWASAKI disease?
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Karyotype 46 X - only affects females Short stature, wide neck and delayed puberty What is this?
Turner’s syndrome
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?
Henoch Schonlein Purpura
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?
This is Nephrotic syndrome
A 2 week old boy presents with projectile vomiting, weigt loss, a palpable epigastric mass during feeding and visible persitalsis. What is this?
Pyloric stenosis
Child with a defect in the DeltaF508 gene coding for CFTR?
Cystic fibrosis
What does the sodium chloride on the sweat test have to be in cystic fibrosis?
Sweat test - >60mmol/L
A child with Brushfield spots on the iris, low set ears and a prominent tongue What is this? What are brushfield spots?
Child has downs syndrome
A 1 year old boy presents with hepatomegaly, tachycardia and tachypnoea and a harsh systolic murmur best heard over the lower left sternal edge?
Heart failure secondary to VSD
On examination you notice girl has a webbed neck, broad chest,, wide spaced nipples and absent secondary characteristics What is this?
Turner’s syndrome
80% of those affected have a mutation of the MECP2 gene on the X chromosome - therefore almost always seen in girls What is this?
Rett’s syndrome
In rett’s sydrome, the child has normal growth before stage one where they rapidly slow down in the development What is stage 2?
Regression - child starts to lose some of their abilities
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?
Albinism - defect in gene that produces melanin
Abnormally drooping eyelids, microtia (sometimes acrotia), macrostomia (enlarged mouth) Gene mutation on chromosome 5 What is this?
This is Treacher Collins syndrome
What condition is similar to treacher collins sydrome however only affects one side of the face? unilateral microtia
This is Goldenhar syndrome
mutation of phenylalanine hydroxylase gene on chromosome 1 Detected by guthries test What are symptoms of this disease?
Phenylketonuria Fair hair, fits, eczema, musty urine, low IQ
What enzyme is deficient in phenylketonuria?
Phenylalanine hyrdoxylase on chromosome 1
(Loss of paternal contribution of long arm of chromosome 15) What is this and what are features?
This is Prader Willi syndrome Causes constant feeding required, hypogonadism, mental retardation, obesity
MEconeum ileus can be a sign of cystic firbrosis in kids What else is it a sign of?
Hirschsprung’s disease is a rare condition that causes poo to become stuck in the bowels. It mainly affects babies and young children.
What are other signs of hirschsprung’s disease?
Meconeum ileus for greater than 48hours Swollen belly Bile green vomit
