Diseases of children (pediatrics)

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".

Symptomatic Anemia

The development of anemia is possible with a number of pathological conditions, seemingly not related to the hematopoietic system. Diagnostic difficulties, as a rule, do not occur if the underlying disease is known and the anemic syndrome does not prevail in the clinical picture.

Anemia of prematurity

The main factors contributing to the onset of anemia in the first year of life in preterm or low birth weight babies are cessation of erythropoiesis, iron deficiency, folate deficiency and vitamin E deficiency.

Hemolytic-uremic syndrome

Hemolytic-uremic syndrome was first described as an independent disease by Gasser et al. In 1955, characterized by a combination of microangiopathic hemolytic anemia, thrombocytopenia and acute renal failure, in 45-60% of cases ends lethal.

Methemoglobinemia

Methemoglobin, in contrast to conventional hemoglobin, contains unreduced iron (Fe2 +), and oxidized (Fe3 +) and in the process of reversible oxygenation, oxyhemoglobin (HbO2) is partially oxidized to methaemoglobin (Mt Hb).

Deficiency of activity of glucose-phosphate isomerase

In heterozygotes, the activity of glucose-phosphate isomerase in erythrocytes is 40-60% of the norm, the disease is asymptomatic. In homozygotes, the activity of the enzyme is 14-30% of the norm, the disease proceeds in the form of hemolytic anemia. The first manifestations of the disease can be observed already in the neonatal period - marked jaundice, anemia, splenomegaly.

Aplastic anemia

Aplastic anemia is a composite group of diseases, the main symptom of which is depression of bone marrow hemopoiesis according to aspirate and bone marrow biopsy and peripheral pancytopenia (anemia of different severity, thrombocytopenia, leukogranulocytopenia and reticulocytopenia) in the absence of diagnostic signs of leukemia, myelodysplastic syndrome, myelobnosis and tumor metastases .

Health