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Kostmann's syndrome: causes, symptoms, diagnosis, treatment
Last reviewed: 23.04.2024
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Kostmann's syndrome (children's genetically determined agranulocytosis) is the most severe form of hereditary neutropenia.
[1]
Causes of Costman's Syndrome
The type of inheritance is autosomal recessive, there may be sporadic cases and a dominant type of inheritance. In some patients, a mutation of the gene encoding the formation of neutrophil elastase (ELA-2 gene) was detected predominantly in sporadic forms. The level of the genetic defect has not yet been found. Some patients with Costman's syndrome (13-27%) have a point mutation of the granulocyte colony-stimulating factor receptor gene. These patients belong to the high-risk group of myelodysplastic syndrome and acute myeloid leukemia.
[2]
Symptoms of Costman's syndrome
Kostmann's syndrome is the debut of the disease in the first months of life or during the newborn period in the form of severe recurrent bacterial infections: stomatitis, chronic gingivitis, repeated pneumonia, including destructive ones. Typical is deep agranulocytosis (<0, 3x10 9 / L neutrophils). Myelogram is characteristic: only fissile neutrophil cells, promyelocytes and / or myelocytes are retained, the number of eosinophils and monocytes is increased. In promyelocytes, there are atypical nuclei, large azurophilic granules and vacuoles in the cytoplasm. Without special treatment, patients died before 2-3 years.
Treatment of Costman's syndrome
The main treatment for Costman's syndrome is recombinant granulocyte colony-stimulating factor (filgrastim and lenograstim) at a therapeutic dose of 6-100 μg / kg per day, the drug is administered subcutaneously. The maintenance dose is selected individually to maintain an absolute number of neutrophils above 1000 / mm 3. Apply for life, tolerance is good. During the exacerbation of infections, antibiotics of a wide spectrum of action, antifungal agents are used. Transfusions of donor granulocytes are shown in especially severe cases. Given the high risk of developing leukemia, patients should be under medical supervision with a dynamic assessment of the hemogram. With resistance to treatment with a granulocyte colony-stimulating factor or the appearance of a mutation in the granulocyte colony-stimulating factor receptor gene, allogeneic bone marrow transplantation is indicated.
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