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