Dubin Johnson Syndrome: Yellow Skin for Life
Dubin Johnson syndrome, also known as Conjugated Hyperbilirubinemia, Hyperbilirubinemia type II or chronic idiopathic jaundice is a rare genetic disease that affects the liver and that some describe as a inherited disorder familial benign.
The syndrome was first described by Dubin and Johnson in 1954. Sufferers have an abnormal jaundice, or yellowing of mild, throughout his life. The jaundice may be aggravated by alcohol, stress, pregnancy, infection, oral contraceptives and other environmental factors.
Jaundice is a condition that can be caused by various genetic disorders, including Crigler-Najjar syndrome, Rotor syndrome, Gilbert syndrome or Dubin Johnson syndrome, among others.
Gastroenterologists, specialists in primary care and in some cases, pediatricians, specialists are usually done in diagnosing this rare disease.
Causes and symptoms and risk factors Dubin Johnson syndrome
Dubin Johnson syndrome is inherited, passed when both parents are carriers. To manifest disease, it is necessary the existence of a gene abnormality in one of the 22 autosomal chromosomes (not sexual) from each parent.
People who have a single abnormal gene are called carriers, and can transmit the disease but not have it. However, they may present a greater predisposition to sensitivity to radiation than the rest of the population.
In Dubin Johnson syndrome, transport of bilirubin from the liver into the biliary system is abnormal, so it accumulates in the liver, although liver function usually remains normal.
When bilirubin is not properly processed, it accumulates in the bloodstream and causes the skin and whites of the eyes to turn yellow (jaundice). Very high levels of bilirubin can damage the brain and other organs.
The main symptom of Dubin Johnson syndrome is a mild jaundice, which in most cases does not usually appear until puberty or adulthood.
Dubin Johnson syndrome is a chronic benign. Is often accompanied by symptoms such as functional dyspepsia (upset stomach), asthenia (general weakening) and sometimes a mild hepatomegaly (abnormally large size of the liver), dark urine, hyperbilirubinemia (increased bilirubin in blood) and stool without color.
Bilirubin levels rise abnormally to figures 2 and 5 mg / dl but can reach as high as 20 mg / dl.
Dubin Johnson Syndrome is a rare family that affects both men and women of various races and nationalities. Is inherited as an autosomal recesivoy mainly affects people with Jewish ancestry from the Middle East.
Prevention, diagnosis and treatment of Dubin Johnson syndrome
Genetic counseling may be valuable for prospective parents with a family history of Dubin-Johnson syndrome.
For those with Dubin Johnson syndrome are advised to avoid exaggerated fatigue and know that the conditions of stress or infectious processes can increase the jaundice.
The diagnosis of Dubin Johnson syndrome includes tests to assess liver function: Blood tests to check levels of bilirubin and detect the possible retention of Sulfobromophthalein, urinalysis and liver biopsy.
In most patients the outcome of the examination is normal, jaundice being the most prominent clinical sign. There may be a slight hepatomegaly (enlarged liver usually large).
No specific treatment is available that is effective for the Dubin Johnson syndrome.
Complications and prognosis of Dubin Johnson syndrome
Complications of Dubin Johnson syndrome are rare, but can decrease severe jaundice and liver function.
Dubin Johnson syndrome has a good prognosis and is compatible with normal life.
This syndrome generally does not shorten life expectancy of people and although the jaundice persists for life, does not require treatment.
