G6PD deficiency..

Assalamualaikum

First of all, this is my new post. what i want to share is from my round today. my friend cover a bed with a patient's baby admitted for jaundice. the baby was a boy and diagnosed with G6PD deficiency. Below are the points that we all discuss during that time...really enjoy it.

Q: why only baby boy will be affected?

A: because this is sex linked inheritance. the gene is x-linked recessive. so the boy carry only one gene x and one gene y. so the percentange is 50 %. the girl only become carrier.

Q: What is the function of G6PD?

A: reduce NADP to NADPH in pentose 6 pathway. NADPH is needed for the production of gluthatione that is needed in maintain the RBC membrane from oxidant stress.

Q: Why a baby suffering from neonatal jaundice?

A: a baby with G6PD deficiency will prone to expose with oxidant material. jaundice usually appears by age 1-4 days, or slightly earlier than so-called physiologic jaundice. the RBC membrane will damage and called acute hemolysis. the unconjugated bilirubin will higher than conjugated one because the liver function of the baby cannot adapt the excess hemolysis.

Q: why we 'tahan' the baby?

A: to treat with phototeraphy. the phototeraphy will function as a second liver that help to eliminate bilirubin and to be secreted.

Q: What is the complication of neonatal jaundice? why?

A: the complication is kernicterus because the blood brain barrier (BBB) in newborns not well formed. so, the unconjugated bilirubin can passed through.

Q: so, what we do for the mother?

A: the mother will be counsel about G6PD deficiency, the nature, diets, exposures and risk of jaundice and its complication including kernicterus.

so, thats all the question has been asked by prof shuhaila and dr nasir

lets continue our discussions..

what are the lab findings that u look for?

1. feature of increase RBC breakdown - serum bilirubin, unconjugated, urinobilinogen, feacal stercobilinogen, serum haptoglobin..etc

2. feature of increase RBC production - reticulocytes, BM hyperplasia

3. feature of damaged RBC- morphology (FBP) - microspherocyte, fragments, peripheral blood film (presence of blister cell, reticulocyte, Heinz bodies.

what are principle mx?

1. avoid/stopped offending drug/element

2. treat underlying infx

3. severe anemia- blood transfusion

4. severe case of neonatal jaundice, phototeraphy and exchange transfusion is needed.

ok, thats all for today. thanks for reading..

a baby get a phototeraphy (not belong to this case ye..)