Introduction
Alagille Syndrome is an genetic disease that closely resembles other sorts of disease seen in infants and young children. However, a gaggle of bizarre features affecting other organs distinguishes Alagille syndrome from the opposite liver and biliary diseases of infants.
What are the symptoms of Alagille Syndrome?
Symptoms of Alagille Syndrome are jaundice; pale, loose stools; and poor growth within the primary three months of life. Later, there is persistent jaundice, itching, fatty deposits in the skin, and stunted growth and development during early childhood. The disease often stabilizes between ages four and ten with an improvement in symptoms.
Other features, which help establish the diagnosis, include abnormalities within the kidneys, circulatory system , eyes, and spine. Narrowing of the vessel connecting the guts to the lungs results in cardiac murmur s but rarely causes problems in heart function. The shape of the bones of the spinal column may look like the wings of a butterfly on x-ray, but this shape almost never causes any problems with function of the nerves in the spinal cord.
More than 90% of youngsters with Alagille syndrome have an unusual abnormality of the eyes. An extra, circular line on the surface of the attention are often detected during a specialized eye examination. In addition, some children may have some changes in kidney function.
Many physicians believe that there's a selected facial appearance shared by most of the youngsters with Alagille syndrome that creates them easily recognizable. The features include a prominent, broad forehead; deep-set eyes; a straight nose; and alittle pointed chin.
What causes Alagille Syndrome?
Alagille Syndrome may be a genetic condition (associated with the Notch signaling pathway and Jagged1 gene) that causes narrowed and malformed bile ducts within the liver. Bile that can't flow through the deformed ducts builds up within the liver and causes scarring. The connective tissue prevents the liver from working properly to eliminate wastes from the bloodstream.
How is Alagille Syndrome diagnosed?
A diagnosis of Alagille Syndrome usually depends upon finding several different components of the syndrome in a private . Generally, the syndrome involves five distinct findings, including reduced bile flow, congenital heart condition , bone defects, a thickening of a line on the surface of the attention , and particular countenance . Diagnosis can be confirmed by genetic analysis.
How is Alagille Syndrome treated?
Treatment of Alagille Syndrome focuses on trying to extend the flow of bile from the liver, maintaining the child’s normal growth and development pattern, and correcting any of the nutritional deficiencies that often develop. Because bile be due the liver to the intestine is slowed in Alagille syndrome patients, medications designed to extend the flow of bile are frequently prescribed.
While reduced bile flow into the intestine results in poor digestion of dietary fat, a selected sort of fat can still be digested, and thus infant formulas containing high levels of medium-chain triglycerides (MCT) are usually substituted for conventional formulas. Some infants can grow adequately on breast milk if additional MCT oil is given. There are no other dietary restrictions.
Problems with fat digestion and absorption may lead to deficiency of fat-soluble vitamins (A, D, E, and K). Deficiencies of those vitamins are often diagnosed by blood tests and may usually be corrected by large oral doses. If the child’s system cannot absorb vitamins given orally , vitamin injections into the muscle could also be necessary.
Sometimes surgery is important during infancy to assist establish the diagnosis of Alagille syndrome by interrogation of the common bile duct system and thru liver biopsy. However, surgical reconstruction of the common bile duct system isn't recommended because bile can still be due the liver, and there's presently no procedure which will correct for the loss of the bile ducts within the liver. Occasionally, liver cirrhosis advances to a stage where the liver fails to perform its functions. Liver transplantation is then considered.
Who is at risk for Alagille Syndrome?
Alagille syndrome is usually inherited only from one parent and there's a 50% chance that every child will develop the syndrome. The genetic basis has recently been defined and therefore the “Alagille gene” has been found. Each affected adult or child may have all or only a couple of of the features of the syndrome. Frequently, a parent, brother, or sister of the affected child will share the facial appearance, heart murmur, or butterfly vertebrae, but have a totally normal liver and bile ducts.
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