Inheritied metabolic disorders Flashcards
What is G6PD (RF, SX)
Rare deficiency in important enzyme in pentose phosphate pathway (prevent damage to RBC)
X linked recessive - affects only MALES or homozygous females (rare)
RF -10-20% of central africa, mediterannae,, middle east, far east
Sx -
usually heamolytic crisis after a drug/medication/oxidative stress
main ones - antimalarials (quinine), Antibiotics (nitrofurantoin), analgesic (high dose asp), chemicals (fava beans, naphtalene moth balls), infections
in neonates -
neoantal jaundice requiring transfusion
Acute intravascular heamylysis -abdo pain, fever, malais, dark urine, jaundice, pallor
Ix and Mx of G6PD
nothing abnormal betweem episodes during- raised G6PD during reduced G6PD after episode blood film (acute)- heinz body, bite cells go to is -G6PD NOW and repeat in 1 month
Mx - pt education
teach about heamolyis sx- jaundice, dark urine, pallor
Avoidance of causative factors (chemicals and foods)
In acute heam - supportive fluids and care + folic acid
transfusion rarely needed