Neutropenia and Inheritance

Neutropenia and hereditary diseases

Neutropenia is a decrease in the level of neutrophils in the blood, which can be caused by various reasons. One option is a hereditary factor, when the genes responsible for the formation of neutrophils are disrupted. A group of hereditary diseases associated with the almost complete absence of neutrophils in the blood is known as neutropenia.

Neutropenia can manifest as a constant condition or as periodic attacks. As a rule, such diseases are inherited according to a recessive mode of inheritance. The pathogenesis of the primary mechanisms of neutropenia has not been sufficiently studied, but it is known that infectious inflammatory processes are caused by neutropenia.

The clinical picture of neutropenia is characterized by a tendency to infections, mainly caused by staphylococci, as well as severe periodontal disease since childhood. In the periodic form of the disease, fever and infections are strictly periodic and correspond to days of neutropenia. There are almost no neutrophils in the blood, while the number of eosinophils and monocytes is increased. In the periodic form, these changes last for several days, occurring at strictly defined intervals. Anemia and thrombocytopenia are not observed. In the bone marrow, a break in neutrophil maturation is observed at the promyelocyte stage (less often a myelocyte), monocytosis (in children there are often many promonocytes) and eosinophilia.

Treatment of neutropenia is aimed at combating infectious complications and maintaining periodontal health. In the presence of infectious complications, antibiotics are prescribed, and continuous therapy for periodontal disease is carried out. In the periodic form of the disease, a course of antibiotics, for example, oxacillin, can be prescribed before a crisis, which can dramatically reduce the severity of the infection.

The prognosis of neutropenia depends on the severity of the disease and the timeliness of treatment. Eliminating infections saves the lives of sick children, and over the years the severity of the disease weakens. For periodic forms of the disease, it is recommended to carry out prophylaxis with antibiotics before a crisis to reduce the severity of the infection.

Thus, neutropenia is a group of hereditary diseases associated with the almost complete absence of neutrophils in the blood. As a rule, such diseases are inherited according to a recessive mode of inheritance, and their pathogenesis is not fully understood. The clinical picture of neutropenia is characterized by a tendency to infections and severe periodontal disease since childhood. Treatment is aimed at controlling infectious complications and maintaining periodontal health, and may also include antibiotics. The prognosis depends on the severity of the disease and the timeliness of treatment. In the periodic form of the disease, prophylaxis with antibiotics before the crisis is necessary to reduce the severity of the infection.