Fanconi Anemia

Fanconi anemia is a rare genetic disease that is characterized by metabolic disorders and the development of various symptoms, including anemia, problems with the intestines, bones and teeth.

Fanconi syndrome was first described in 1932 by Swiss pediatrician Joseph Fanconi. He observed children with developmental disorders of bones, teeth and intestines. Anemia was also detected in some patients. It was later determined that Fanconi syndrome is a hereditary disease associated with a gene mutation on chromosome 17.

In Fanconi syndrome, the production of red blood cells is impaired, leading to anemia. There may also be problems with the intestines and teeth, which are associated with insufficient production of certain enzymes.

Treatment of Fanconi syndrome involves taking medications to improve metabolism and prevent complications. Surgery may also be required to correct some problems.

The prognosis for Fanconi syndrome depends on the severity of the disease and the presence of complications. Some patients can live quite a long time, but many die at an early age due to complications associated with anemia and other disorders.

Fanconi anemia is a severe hereditary developmental disorder associated with improper cell division at all stages of the process. Oncogenic disease has not made it possible to exclude the hereditary nature of the disease, although no data on the genetic basis of the disease have yet been obtained. The disease was discovered by the Swiss pediatrician J.B. Fanconi, the father of the outstanding neurophysiologist A. Fanconi, and was first described in 1905. Subsequently in the literature "F. a." has been repeatedly called "Fanconich syndrome", emphasizing the complex of symptoms observed in affected patients. Until 1937, this disease was considered the most severe childhood disease, since children with F. a. lived on average from several months to 4 years. However, since effective treatment methods appeared: intravenous administration of pyrimidine, supporting iron supplements, the average life expectancy of children with F.a. has grown to adulthood and is estimated in decades. The average life expectancy of such a person can exceed 60 years and even longer. With F. a. Two main types can be distinguished: F. Fancopi syndrome, or “white” F., and F. Visco anemia, or X-linked lethal type. At first, this disease was considered one of the types of aplastic blood, but then its more severe and rare form was diagnosed - Fanponi aleukia.

The main discovery for science and medicine associated with this bloody disease was the identification of a deficiency of the pandan-imidylate transaminase (PEMT) form of the enzyme metabolism of fatty acids, proteins and carbohydrates. This enzyme was first discovered only in the 20s of the last century (g.s.) in an experiment. Therefore, it is so important to remember and know the name of this enzyme. If it happens that a patient is diagnosed with a deficiency of this important enzyme in childhood, then there is every chance of saving this unfortunate person if he falls into the hands of a scientist who knows what medicine to take. However, there is no hope for a cure with F.A. and the parents are now experiencing the same torment, trying to support the life of their sick child. The main problem of F. a. is the harmful effect of pandan - imidylotecyl-trans-enzyme on erythroid growth with the formation of abnormal megaloblasts in the bone marrow. Along with giant erythroblasts, which can extend to the periphery and linger in the capillaries of the bone marrow and skeletal bones, large segmented neutrophils and erythrocytes with an abundance of granules and an increased DNA/DNA ratio are found in the peripheral blood.