Diferencia entre revisiones de «Enfermedades metabólicas producidas por enzimas defectuosas/Fucosidosis»
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La forma de detectar fucosidosis es por medio de una evaluación de la genética. Un equipo de la genética considera el historial médico y las características clínicas de un paciente para determinar qué tipo de prueba genética es apropiado. Para el diagnóstico de una enfermedad del almacenaje de la glicoproteína, un análisis de orina debe demostrar los oligosacáridos crecientes. Para determinarse si el paciente tiene Fucosidosis, el análisis de orina se debe seguir por una biopsia del análisis o de la piel de sangre. La muestra de la sangre o de la piel debe demostrar las cantidades disminuidas de la enzima alfa fucosidasa.
Actualmente, no hay curación para parar la progresión de síntomas de Fucosidosis.
== Fucosidosis ==
Introduction
Fucosidosis is a lysosomal storage disease which was first described by Dr. Durand and colleagues in 1966. It has some similarities to the mucopolysaccharide diseases and so affected children and adults and their families are welcome to join the MPS Society.
What causes Fucosidosis?
Cells in our bodies are constantly being renewed and used materials must be broken down and excreted. Proteins called enzymes are essential in this process, but sometimes the genetic instructions for producing one of the enzymes are faulty. Fucosidosis takes its name from the enzyme which is defective - alpha-L-fucosidase. Without the enzyme, used materials cannot be completely broken down and remain stored in the body, causing progressive damage to cells. Babies may show little sign of the disease, but as more and more cells become damaged, symptoms start to appear.
How common is Fucosidosis?
The disease is very rare and to date fewer than one hundred cases have been reported worldwide. Around a third of these people are of Italian extraction. The UK MPS Society has four families with affected children as members. Fucosidosis also occurs in English springer spaniel dogs.
Prenatal diagnosis
If you already have a child with Fucosidosis it is possible to have tests during a subsequent pregnancy to find out whether the baby you are carrying is affected. It is important to consult your doctor early in the pregnancy if you wish tests to be arranged.
Is there a cure?
At present there is no cure for Fucosidosis, but the gene responsible has been located and research may find a way to treat the patients in the future.
How does the disease progress?
Fucosidosis will affect children differently; a minority will be severely affected, but in most cases change will be gradual and easier to adjust to. A very small number of children will die before the age of five, but the majority will live longer, some at least into their thirties.
Earlier reports divided the disease into two distinct types according to severity, but this division is now thought to be unnecessary. The disease has a range of symptoms but this does not mean that your child will experience them all, or that he or she will be severely affected by them.
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