Paediatrics random

Question 1

What is anaemia defined as for a neonate?

Answer 1

Hb less than 140g/L

Question 2

What is anaemia defined as for 1 month to 12 months of age?

Answer 2

Hb less than 100g/L

Question 3

What is anaemia defined as for 1 year to 12 years of age?

Answer 3

Hb less than 110g/L

Question 4

Anaemia results from what mechanisms?

Answer 4

• reduced cell production (ineffective erythropoiesis or red cell aplasia)
• increased red cell destruction (haemolysis)
• blood loss

Question 5

What are the causes of ineffective erythropoiesis?

Answer 5

Iron deficiency 
folic acid deficiency 
chronic inflammation (juvenile idiopathic arthritis)
chronic renal failure

Question 6

What are the causes of red cell aplasia?

Answer 6

Parvovirus B19 infection
Diamond blacken anaemia (congenital red cell aplasia)
Transient erythroblastopenia of childhood
Fanconi anaemia
aplastic anaemia
leukaemia

Question 7

what is a wilms tumour?

Answer 7

wilms nephroblastoma is one the most common childhood malignancies typically presenting in children under 5 years of age

Question 8

what are the features of a wilms’ tumour?

Answer 8

abdominal mass - most common presenting feature 
painless haematuria 
flank pain 
anorexia fever 
unilateral in 95% of cases

Question 9

what is alports syndrome?

Answer 9

Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. People with Alport syndrome experience progressive loss of kidney function. Almost all affected individuals have blood in their urine (hematuria), which indicates abnormal functioning of the kidneys.

Question 10

what are some features of CF?

Answer 10

neonatal period (around 20%): meconium ileus, less commonly prolonged jaundice
recurrent chest infections (40%)
malabsorption (30%): steatorrhoea, failure to thrive
other features (10%): liver disease

short stature
diabetes mellitus
delayed puberty
rectal prolapse (due to bulky stools)
nasal polyps
male infertility, female subfertility

Question 11

what is turners syndrome?

Answer 11

Turner’s syndrome is a chromosomal disorder affecting around 1 in 2,500 females. It is caused by either the presence of only one sex chromosome (X) or a deletion of the short arm of one of the X chromosomes. Turner’s syndrome is denoted as 45,XO or 45,X.

Question 12

what is hirschsprung’s disease?

Answer 12

Hirschsprung’s (HIRSH-sproongz) disease is a condition that affects the large intestine (colon) and causes problems with passing stool. The condition is present at birth (congenital) as a result of missing nerve cells in the muscles of the baby’s colon

Question 13

how is haemophilia A & B inherited?

Answer 13

x-linked recessive