Rare inherited disorder that increases bilirubin content (bilirubin is the product left after old red blood cells are removed, this then removed by the liver), which is normally excreted by the liver into the bile.
DJS is inherited in an autosomal recessive pattern.
Recessive genetic disorders occur when an individual inherits a non-working gene from each parent.
If an individual receives one working gene and one non-working gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms.
The risk for two carrier parents to both pass the non-working gene and, therefore, have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier, like the parents, is 50% with each pregnancy. The chance for a child to receive working genes from both parents is 25%. The risk is the same for males and females.
NORD
Cause
Changes (mutations) in the ABCC2 gene.
This gene codes for a protein called multidrug resistance protein 2 (MRP2).
This protein moves substances out of the cell and is found mainly in the liver but is also present in the kidneys, the intestine, and the placenta. The normal functioning protein works to secrete bilirubin into the bile, which is then transported to the gallbladder where it is stored.
When the gall bladder is contracted during digestion, the bile is secreted into the intestine and then passes into the faeces.
Fever greater than 38°C or 100°F, hot sweaty and clammy?
General discomfort (muscle weakness), uneasiness or ill feeling (malaise) and/or fatigue (tiredness)?
Abdominal pain and/or are constant violently vomiting or vomiting longer than two days?
Weight loss?
Itchy skin (high levels of bile in the skin)?
A new rash that has appeared or existing rash getting worst (red palms or spider veins)?
Spider veins on hands and skin?
Red palms (long term liver disease)?
Bruising and bleeding (blood not clotting properly)?
Abdominal heaviness, swelling in abdomen and liver area (due to ascites where one has a fluid build up in the peritoneal cavity (a lining around the abdominal organs and intestines)?
Short of breath and/or breathing difficulties (due to swelling affecting diaphragm movement)?
Please talk to your healthcare professional (i.e. Medical Doctor/Pharmacist) for further advice
Detailed Information
Please copy and paste any key words from the title: Dubin-Johnson Syndrome in the following respective 'Medtick References and/or Sources' to find out more about the disease (this also may include diagnosis tests and generic medical treatments).
The Pharmaceutical Journal covers analysis, features, opinion, learning and careers articles, providing insight and knowledge about drugs, pharmacy practice, medicines use and healthcare policy in the context of the pharmacy profession and pharmaceutical science.
