Diseases of children (pediatrics)

Kostmann syndrome: causes, symptoms, diagnosis, treatment

Kostmann syndrome (childhood genetically determined agranulocytosis) is the most severe form of hereditary neutropenia. The type of inheritance is autosomal recessive, there may be sporadic cases and a dominant type of inheritance.

Neutropenia in children

The criterion for neutropenia in children over one year of age and adults is a decrease in the absolute number of neutrophils (band and segmented) in the peripheral blood to 1.5 thousand in 1 μl of blood and below, in children in the first year of life - to 1 thousand in 1 μl and below.

Alloimmune, or isoimmune, neonatal neutropenia

Alloimmune, or isoimmune, neutropenia of newborns occurs in the fetus due to antigenic incompatibility of the fetus's and mother's neutrophils. The mother's isoantibodies belong to the IgG class, they penetrate the placental barrier and destroy the child's neutrophils. Isoantibodies are usually leukoagglutinins, they react with the cells of the patient and his father, do not react with the mother's cells.

Chediak-Higashi syndrome.

Chediak-Higashi syndrome is a disease with generalized cellular dysfunction. The type of inheritance is autosomal recessive. It is caused by a defect in the Lyst protein. The characteristic feature of this syndrome is giant peroxidase-positive granules in neutrophils, eosinophils, monocytes of the peripheral blood and bone marrow, as well as in granulocyte precursor cells.

Schwachman-Daimond syndrome: causes, symptoms, diagnosis, treatment

Shwachman-Diamond syndrome is characterized by neutropenia and exocrine pancreatic insufficiency in combination with metaphyseal dysplasia (25% of patients). Inheritance is autosomal recessive, there are sporadic cases. The cause of neutropenia is damage to progenitor cells and bone marrow stroma. Neutrophil chemotaxis is impaired.

Myeloperoxidase deficiency: causes, symptoms, diagnosis, treatment

Myeloperoxidase deficiency is the most common congenital pathology of phagocytes; the frequency of complete hereditary myeloperoxidase deficiency is from 1:1400 to 1:12,000.

Chronic granulomatous disease.

Chronic granulomatous disease is a hereditary disease caused by a defect in the superoxide anion formation system in neutrophils in response to stimulation by microorganisms. This disease is based on genetically programmed changes in the structure or deficiency of the enzyme NADPH oxidase, which catalyzes the reduction of oxygen to its active form - superoxide.

Partial red-cell aplasia.

The term "partial red cell aplasia" (PRCA) describes a group of nosological entities characterized by anemia combined with reticulocytopenia and the disappearance or significant reduction in the number of morphologically determined, as well as early committed precursors of erythropoiesis in the bone marrow. The classification divides PRCA into congenital and acquired forms.

Diamond-Blackfan anemia.

Diamond-Blackfan anemia is the best-known form of partial red cell aplasia in children. The disease is named after the authors who described four children with characteristic signs of the disease in 1938.

Congenital dyskeratosis: causes, symptoms, diagnosis, treatment

The first description of congenital (congenital) dyskeratosis (Dyskeratosis congenita) was made by the dermatologist Zinsser in 1906, and in the 1930s it was supplemented by dermatologists Kohl and Engman, therefore another name for this rare form of hereditary pathology is “Zinsser-Kohl-Engman syndrome”.