Clinically, the correct and rapid diagnosis of a disease is very important and sometimes it may mean the difference between life and death. This bears even greater truth when dealing with new-borns. Some significant congenital illnesses such as phenylketonuria (PKU) and glucose-6-phosphate dehydrogenase deficiency can be fatal as a result of missed or delayed detection. One major cause for alarm is the trend towards early discharge of a mother and her new-born. For instance in the United States it is now common to be discharged within 24 - 48 hours postnatally. 28.This is unquestionably driven more by economic reasons rather than health reasons.
The problem with infants with glucose-6-phosphate dehydrogenase deficiency is that they always seem fine until 5 days of age before showing any diagnostic symptoms such as jaundice, anaemia, decreased interest in feeding and lethargy. The elevated bilirubin levels, hyperbilirubinaemia with total serum bilirubin about 40mg/dL can lead to kernicterus, a well known cause of neonatal death. A higher risk of kernicterus is demonstrated in infants with haemolysis as opposed to infants without signs of haemolysis. Kernicterus is often fatal, and even if an infant were to recover he/she will certainly show some signs of neurologic damage or mental retardation e.g. bilateral high frequencies hearing loss, hypotonia, continuous lip-smacking, hypnotic staring spells, absence of visual tracking and intermittent sunset of the eyes and cerebral palsy. The reason for the rise in bilirubin levels in a glucose-6-phosphate dehydrogenase deficient subject may be two fold i.e. the increased haemolysis and impaired liver function where the enzyme deficiency is sufficiently severe to impair the catabolism of bilirubin. It is common practise to perform phototherapy and exchange transfusion in babies with severe jaundice where the bilirubin concentration is more than 380mmol/l i.e. 20mg/100ml. Precautions should also be taken thereon to avoid any drugs or substances which may precipitate kernicterus. 3. 20. 28.Similarly, in adult patients with glucose-6-phosphate dehydrogenase deficiency the symptoms of haemolysis do not appear immediately after exposure to oxidative stress. Haemolysis and jaundice typically begin within 2 to 3 days of taking such drugs.
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Prepared on 01 Jan 2008 by teekoonhien |
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