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Krabbe disease is a rare and still poorly known genetic disease of the nervous system. It belongs to the group of fatal diseases and mainly affects infancy children, whose life expectancy does not even reach two years. Unfortunately, no effective treatment for Krabbe’s disease has yet been developed – only its symptoms are minimized to keep the patient alive as long as possible.
Choroba Krabbego causes a lack of galactocerebrosidase, i.e. the enzyme needed for the proper metabolism of myelin. Its absence causes disorders of the nervous system, including the work of the brain. It is congenital in nature, but it is diagnosed at about 4-6 months of a child’s life.
What does Krabbe’s disease manifest?
Choroba Krabbego mainly manifested by the aforementioned lack of the enzyme necessary for the proper metabolism of myelin, i.e. galactocerebridose. As a result, its failure causes damage to brain cells. The myelin sheath has a protective function that covers the nerve fibers. No myelin – during krabbego disease – leads to permanent damage to the nervous system in a short time. Other symptoms include: high fever for no apparent reason, abnormal body weight of the child, problems with holding the head, poor psychomotor development of the child, convulsions and vomiting, stiff limbs, loss of sight or hearing.
What are the causes of Krabbe disease in children?
Choroba Krabbego is an inherited disease caused by a mutation in the GALC gene located on the 14th chromosome. It develops in a child when the gene is inherited from both parents. However, it is difficult to diagnose the possession of this gene in adult humans because its mutation is not associated with any discomfort. Moreover, the probability of meeting of partners possessing a recessive gene is very low. A recessive gene is found in an average of one in 150 people. Nevertheless, it is extremely important, when planning offspring, to perform a prenatal test that completely excludes this possibility.
Prognosis for Krabbe Disease – Any Chance?
Unfortunately choroba Krabbego is a fatal disease. Without the possibility of treating its causes, any prognosis for the child’s recovery is impossible. Choroba Krabbego is not yet undergoing gene therapy, in which the defective gene can be replaced by a healthy one. This chance only arises in the case of children who, even before the onset of symptoms, received umbilical cord blood stem cells.
Treatment krabbego disease it is therefore only intended to alleviate the symptoms and stabilize the child’s life. Diagnose krabbego disease in its early stage, it makes it possible to slow down its later development. Then either a bone marrow transplant is performed or the aforementioned stem cell transplant is performed. People with this extremely rare disease were taken care of by the Polish Association of Mucopolysaccharidosis (MPS) and Rare Diseases.