Kostmann's syndrome is an inherited lack of immunity based on a very low level of neutrophils. Affected people are extremely susceptible to any infections, and even cancer. How is Kostamann's syndrome treated and what is the prognosis for patients?
Kostmann's syndromeor severecongenital neutropeniais a rare disease first described in 1956 by Rolf Kostmann, a Swedish pediatrician. It is one of the few primary causes of neutropenia. A person with Kostamnn's syndrome has a neutrophil count of less than 500 / mm3 . This means that the patient's immunity is severely weakened. How does it manifest?
Symptoms of congenital neutropenia
Primary neutropenia occurs very rarely - once in 100,000 people. It can be suspected in an infant on the basis of recurrent infections and fever. Later in life, the disease may cause:
- periodontitis and oral mucosa
- anal ulcer
- pneumonia
- abscesses and infections of the subcutaneous tissue
- fungal infections as a result of antibiotic therapy
- neurological disorders of varying severity: from mild psychomotor retardation to severe epilepsy
- sensitivity to autoimmune diseases
- susceptibility to cancer
Diagnosis of Kostmann's syndrome
When suspecting congenital neutropenia, conditions associated with acquired or secondary neutropenia should be ruled out if possible. In infants, the so-called chronic and mild autoimmune neutropenia that does not require treatment. The diagnosis can be confirmed by determining the presence of anti-neutrophilic antibodies, although it is not always conclusive.
Kostmann's syndrome is a genetic disease with autosomal recessive inheritance caused by a mutation in the HAX1 gene. Autosomal recessive inheritance is generally based on the fact that if both parents are carriers of the defective gene, their child will have a 25% risk of being born sick.
To make a diagnosis, you need to do genetic testing. They are performed free of charge in the Laboratory of Immunopathology and Genetics of the Department of Paediatrics, Oncology, Hematology andDiabetology of the Medical University of Lodz.
Kostmann syndrome: treatment
Before the introduction of recombinant growth factors for treatment, half of the sick children died in the first year of life. The newborns developed sepsis (sepsis). Currently, we have a drug which, when administered daily, causes an increase in the number of granulocytes above 1000 / mm³ in almost all patients, and a consequent reduction in the incidence and number of hospitalizations. It is G-CSF, or granulocyte colony stimulating factor. Unfortunately, in people treated in this way, the immediate risk of death is reduced, but there is a greater likelihood of developing myelodysplastic syndrome or acute myeloid leukemia.