Diseases of children (pediatrics)

Kostmann's syndrome: causes, symptoms, diagnosis, treatment

Kostmann's syndrome (children's 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 of neutropenia in children older than one year and adults is the decrease in the absolute number of neutrophils (stab and segmented) in peripheral blood to 1.5 thousand in 1 μl of blood and lower, in children of the first year of life - up to 1 thousand in 1 μl and lower.

Alloimmune, or isoimmune, neutropenia of newborns

Alloimmune, or isoimmune, neutropenia of newborns occurs in the fetus due to the antigenic incompatibility of the neutrophils of the fetus and the mother. The isoantibodies of the mother 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 cells of the mother.

Chediak-Higashi syndrome

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

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

Syndrome Shvakhmana-Diamond 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 lies in the defeat of progenitor cells and bone marrow stroma. Violated neutrophil chemotaxis.

Myeloperoxidase deficiency: causes, symptoms, diagnosis, treatment

Deficiency of myeloperoxidase is the most common congenital pathology of phagocytes, the incidence of complete hereditary myeloperoxidase deficiency is from 1: 1,400 to 1:12 000.

Chronic granulomatous disease

Chronic granulomatous disease is a hereditary disease caused by a defect in the formation system of the superoxide anion 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" (PKAA) describes a group of nosological forms characterized by anemia in combination with reticulocytopenia and the disappearance or significant reduction in the number of morphologically defined, as well as early, committed erythropoiesis precursors in the bone marrow. Classification divides the PACA into congenital and acquired forms.

Diamond-Blackfang anemia

The anemia of Diamond-Blackfen is the most famous form of partial red cell aplasia in children. The disease was named after the authors who described in 1938 four children with characteristic signs of the disease.

Congenital dyskeratosis: causes, symptoms, diagnosis, treatment

The first description of congenital (congenital) dyskeratosis (Dyskeratosis congenita) was performed by a dermatologist Zinsser in 1906, and in the 30s. It was also supplemented by dermatologists Kohl and Engman, therefore another name for this rare form of hereditary pathology is the "Zinsser-Kohl-Engman syndrome".

Health