Fanconi Anemia In Children - What Is It? Symptoms And Treatment

2024 Author: Josephine Shorter | [email protected]. Last modified: 2023-12-16 21:43

Fanconi anemia in children

When faced with the diagnosis of Fanconi's anemia for the first time, any person will ask a completely logical question - what is it and how this pathology manifests itself. Fanconi anemia is a very rare genetic disease. In this case, a person suffers from circulatory disorders, which is expressed in a decrease in the number of all blood cells.

For the first time, the disease became known in 1927 thanks to the Swiss pediatrician Guido Fanconi. He described the case history of three boys from the same family who suffered from pancytopenia, and they also had certain disabilities in physical development.

Fanconi's anemia is rarely diagnosed, in about five out of 1 million people a year. South Africans are the most affected. The overwhelming majority of cases are boys.

Content:

• Causes of Fanconi anemia in children
• Symptoms of Fanconi anemia in children
• Diagnostics
• Treatment

Causes of Fanconi anemia in children

The etiology of Fanconi's anemia comes down to genetic abnormalities. This gene mutation is inherited in an autosomal recessive way. If both parents are carriers of the mutated gene, then the probability of having a sick child is equal to 25%. In rare cases, Fanconi's anemia can only be transmitted to boys from the mother.

Modern science knows 15 genes, defects in which can lead to the development of the disease. One of them is located on the X chromosome, and the rest on autosomes. They code for proteins that are required for DNA repair.

As a result, the following changes occur in the patient's body:

• The structure of stem cells is disrupted.
• Chromosomes become brittle.
• All three growths of hematopoiesis in the bone marrow are affected and are unable to perform their function.
• Blood cells take a long time to mature.
• Adult erythrocytes die prematurely.

Symptoms of Fanconi anemia in children

For the first time, the disease manifests itself at the age of 4-10 years; Fanconi anemia is rarely diagnosed at birth.

Its early symptoms include:

• Bleeding that develops spontaneously.
• The appearance of subcutaneous hematomas.
• Pallor of the skin, pallor of the mucous membranes.
• Increased fatigue, lethargy.

The child is sick more often than his peers, since his immune system does not work at full strength. Development of lymphadenopathy is possible.

Most people with Fanconi anemia have birth defects. They are diagnosed in about 75% of patients.

These include:

• Hyperpigmentation of the skin with the appearance of characteristic bronze-brown spots and coffee-with-milk spots. Excessive deposition of melanin in the basal layer of the epidermis leads to a change in skin color.
• Poor condition of teeth and nails.
• Low stature.
• Small head.
• Clubfoot, congenital dislocation of the hip, absence of fingers on the hands, or their shortening, poor development of the radius, cervical rib.
• Mental development disorders.
• Strabismus, ptosis.
• Underdevelopment of the eyes (one or two).
• Deafness.
• Genital hypoplasia, monorchism, abnormal location of the urethra.
• Pathologies of kidney development: the presence of two pelvis or ureters, underdevelopment of organs, the formation of a kidney in the form of a horseshoe, the presence of cysts in the kidneys.
• Heart defects.

These developmental disorders may not always be present and not in full, even if members of the same family suffer from Fanconi anemia. The older a person becomes, the more the hematopoietic functions of the bone marrow are impaired.

In the period from 15 to 25 years, patients have a high risk of developing cancer pathologies:

• Leukemia.
• Carcinoma of the tongue.
• Tumors of the esophagus.
• Liver tumors.

Diagnostics

The diagnosis of Fanconi anemia is within the competence of specialists. It will not be possible to diagnose on your own. The disease can occur in people who do not have congenital malformations and only manifest in adulthood. Therefore, in addition to external symptoms, a family history should be carefully examined.

A general blood test in the early stages of the development of the disease will give a picture of thrombocytopenia and leukopenia. As the pathology progresses, the level of fetal hemoglobin increases against the background of a decrease in all blood cells (pancytopenia).

To confirm the diagnosis, a test with diepoxybutane or mitomycin C is performed. The effect of accumulation of peripheral blood mononuclear cells in the G2 / M phase is also revealed. Confirmation of pathology allows the establishment of mutated genes.

Examination of patients involves performing a myelogram (examination of bone marrow cells using a puncture).

Treatment

Fanconi's anemia treatment is based on stem cell transplantation, androgen administration and replacement therapy.

If the level of ferritin in the blood exceeds 1000 ng / ml, then chelation therapy is performed. With a decrease in the number of neutrophils less than 500 cells / ml, androgens (oxymethalone, methandrostenolone) and hematopoietic growth factors are prescribed. The effect of the treatment will be noticeable no earlier than a month after its start. Severe hypoxia requires platelet and / or erythrocyte mass transfusion. In some cases, the spleen is removed.

If the child has not undergone a bone marrow transplant, then he is given vaccinations with non-living vaccines, and a Mantoux test is performed.

The presence of malignant neoplasms complicates the course of the disease. This makes therapy difficult and often ineffective, especially when radiation therapy is required. The patient's cells are highly sensitive to this effect, which leads to high toxicity and the likelihood of death.

The average life expectancy for people with Fanconi anemia is 30 years, although it all depends on how deeply damaged the bone marrow is.

The patient should be registered with a hematologist, which allows monitoring of his health, early detection and treatment of cancerous growths, hemorrhagic complications and infections.

General principles of management of patients with Fanconi anemia:

• Sparing mode of life.
• Avoid contact with carcinogens such as hair dyes, organic solvents, etc.
• Hypothermia protection.
• Timely treatment of viral and bacterial infections.
• Good quality food.
• Once a year, the patient should be examined by narrow specialists (cardiologist, nephrologist, ophthalmologist, etc.). You will need to visit a hematologist once every 1-3 months or even more often.
• A myelogram is performed once a year, and an ultrasound of the internal organs is performed once every six months.

In some cases, children are transferred to home schooling, they are limited in physical activity.

A child with Fanconi's anemia is recognized as a disabled child. In adulthood, a person must undergo a MREK to obtain a disability.

The only method that makes it possible to get rid of Fanconi's anemia is a bone marrow transplant. However, this procedure is fraught with difficulties. It is quite difficult to find a donor; an identical twin is an ideal carrier of bone marrow for transplantation. The transplant requires radiation or chemotherapy, which can provoke serious complications, up to and including death.

The measures for the prevention of Fanconi's anemia are reduced to the implementation of genetic studies at the stage of pregnancy planning.

Without treatment, 80% of patients die within 2 years after diagnosis. After 4 years, this figure is equal to 100%. Therefore, the treatment of children with Fanconi anemia is a vital necessity.

The author of the article: Sokolova Praskovya Fedorovna | Pediatrician

Education: Diploma in the specialty "General Medicine" received at the Volgograd State Medical University. A specialist certificate was immediately received in 2014.