Paediatrics, what is Alagille Syndrome?
Alagille syndrome is a hereditary disease that mimics other forms of prolonged liver disease and affects infants and children
However, a group of unusual features in other organs distinguishes Alagille syndrome from other paediatric liver and biliary diseases: children with Alagille syndrome usually present with liver disease characterised by a progressive loss of intrahepatic bile ducts in the first year of life and a narrowing of extrahepatic bile ducts.
CHILD HEALTH: LEARN MORE ABOUT MEDICHILD BY VISITING THE BOOTH AT EMERGENCY EXPO
This causes an accumulation of bile in the liver and subsequent damage to the liver cells.
Alagille syndrome can evolve into fibrosis and then cirrhosis in approximately 30-50% of affected children
The disease presents with jaundice, pale, soft stools and stunted growth in the first three months of life.
Thereafter, there is persistent jaundice, itching, fatty deposits in the skin and stunted growth and development during early childhood.
The disease usually stabilises between the ages of 4 and 10 years, with symptoms improving.
Other features that help make the diagnosis are abnormalities affecting the cardiovascular system, spine, eyes and kidneys.
A narrowing of the pulmonary artery, which connects the heart with the lungs, leads to heart murmurs, but rarely to problems in heart function.
The bones of the spinal column may appear in the form of butterfly wings on X-ray, but almost never does this condition cause problems in the nerve function of the spinal cord.
Most children (around 90%) with Alagille syndrome have an unusual eye abnormality
An additional circular line on the surface of the eye requires a specialist eye examination, but does not lead to any visual disturbance.
In addition, some children may present with kidney abnormalities.
Many doctors believe that there are specific facial features shared by most children with Alagille syndrome, which makes them easily recognisable: a prominent, broad forehead, sunken eyes, a straight nose and a small, pointed chin.
Alagille syndrome is usually inherited from only one of the parents; there is a 50% chance that the child will develop it.
Every adult or child affected by this syndrome may have all or only some of the previously mentioned features.
Usually a parent or sibling of the child with Alagille syndrome will share the facial appearance, heart murmur or butterfly-shaped vertebrae, but will have a completely normal liver and bile ducts.
Treatment
Treatment for Alagille syndrome is essentially based on increasing bile flow out of the liver, maintaining normal growth and development of the child and preventing or correcting any specific nutritional deficits that may often develop.
As the bile flow from the liver to the intestine is slow in this disease, drugs are frequently prescribed to speed it up.
These drugs are able to reduce liver damage and improve the digestion of fats found in ingested food. In addition, itching (caused by the accumulation of bile in the blood and skin) can be relieved by the use of other medicines.
Changes in blood cholesterol are also treated with medicines prescribed to increase bile flow.
High levels of cholesterol in the blood can cause small yellow deposits of cholesterol on the skin of the knees, elbows, palms of the hands and feet, eyelids and other surfaces that are frequently rubbed.
Lowering the cholesterol level in the blood leads to an improvement of this situation.
However, although these deposits are aesthetically unpleasant, they are almost never associated with dangerous symptoms.
Some babies are able to grow adequately on breast milk if additional MCT oil is given.
Foods containing fat may cause soft, fatty stools in infancy, but the benefits that result from the absorption of calories and vitamins in fat counterbalance the inconvenience.
Parents of children with Alagille syndrome are often advised not to feed them a low-fat diet
Problems with fat digestion and absorption can result in a deficiency of fat-soluble vitamins, vitamins A, D, E and K.
Vitamin A deficiency can cause night blindness and red eyes.
Vitamin D deficiency can cause weakening and fractures of bones and teeth (rickets).
Vitamin E deficiency can cause a disabling disease of the nervous system and muscles, while vitamin K deficiency can cause bleeding.
Deficiency in these vitamins can be diagnosed through laboratory tests, and can be cured by administering massive oral doses of these vitamins.
If the child does not even absorb orally administered vitamins, intramuscular injections are necessary.
Sometimes, during childhood, an operation may be necessary to help establish the diagnosis of Alagille syndrome through a direct examination of the bile duct system.
Surgical reconstruction of the biliary system is not recommended because bile can still flow from the liver and there is currently no intervention that can correct the loss of intrahepatic bile ducts. In some cases, cirrhosis evolves to a stage where the liver loses its functionality.
In these cases, liver transplantation is considered.
Life expectancy
The general life expectancy for children with Alagille syndrome is not known, because it depends on several factors: the severity of liver fibrosis, the possible development of heart or lung disorders due to narrowing of the pulmonary artery, and the presence of infections or other problems related to poor nutrition.
Many adults with Alagille syndrome, however, lead normal lives.
Although Alagille syndrome was first described in English medical literature in 1975, it is now most frequently recognised among children with chronic forms of liver disease.
The diagnosis can be established with a microscopic examination of samples taken during a liver biopsy, a stethoscope examination of the child’s heart and chest, an eye examination, an X-ray of the spine and an ultrasound examination of the abdomen.
Treatment is primarily pharmacological and not surgical.
Children with Alagille syndrome have a better prognosis than other children with different liver diseases that may occur at the same age.
Read Also:
Emergency Live Even More…Live: Download The New Free App Of Your Newspaper For IOS And Android
Herpes Zoster, A Virus Not To Be Underestimated
Shingles, The Painful Return Of The Chickenpox Virus
What Is Impetigo In Adults And Children And How To Treat It
Ramsay Hunt Syndrome: Symptoms, Treatment And Prevention
Shingles: Symptoms, Causes And How To Ease The Pain
Paediatrics, What Is Reye’s Syndrome?