Diseases of children (pediatrics)

Treatment of complications of cystic fibrosis

In newborns, when diagnosing meconium ileus without perforation of the colon wall, contrast enemas with a high-osmolar solution are administered. When performing contrast enemas, it is necessary to ensure that the solution reaches the ileum. This, in turn, stimulates the release of fluid and remaining meconium into the lumen of the colon.

Familial Mediterranean fever (periodic disease): symptoms, diagnosis, treatment

Familial Mediterranean fever (FMF, periodic disease) is a hereditary disorder characterized by recurrent episodes of fever and peritonitis, sometimes with pleurisy, skin lesions, arthritis and very rarely pericarditis. Renal amyloidosis may develop, which can lead to renal failure.

C1 inhibitor deficiency.

Deficiency of Cl-inhibitor (С1И) leads to the development of a characteristic clinical syndrome - hereditary angioedema (HAE). The main clinical manifestation of hereditary angioedema is recurrent edema, which can threaten the patient's life if it develops in vital localizations.

Defects in innate immunity and the complement system

Complement system defects are the rarest type of primary immunodeficiency states (1-3%). Hereditary defects of almost all complement components have been described. All genes (except the properdin gene) are located on autosomal chromosomes. The most common deficiency is the C2 component. Complement system defects vary in their clinical manifestations.

Defects in the interferon-y/interleukin-12 dependent pathway: symptoms, diagnosis, treatment

Defects leading to disruption of the interferon-gamma (INF-y) and interleukin-12 (11-12)-dependent pathway are characterized by increased sensitivity to mycobacterial and some other infections (Salmonella, viruses).

Defects in leukocyte adhesion

Adhesion between leukocytes and endothelium, other leukocytes and bacteria is necessary for the performance of the main phagocytic functions - movement to the site of infection, communication between cells, formation of an inflammatory reaction. The main adhesion molecules include selectins and integrins. Defects in the adhesion molecules themselves or proteins involved in the transmission of a signal from adhesion molecules lead to pronounced defects in the anti-infection response of phagocytes.

Treatment of chronic granulomatous disease

Previously, bone marrow transplantation (BMT) or hematopoietic stem cell transplantation (HSCT) in patients with chronic granulomatous disease was accompanied by a fairly high failure rate. Moreover, this was often associated with the unsatisfactory pre-transplant status of patients, in particular, with fungal infection, which, as is known, along with GVHD, occupies one of the leading places in the structure of post-transplant mortality.

Congenital neutropenias

Neutropenia is defined as a decrease in the number of circulating neutrophils in peripheral blood below 1500/mcl (in children aged 2 weeks to 1 year, the lower limit of the norm is 1000/mcl). A decrease in neutrophils to less than 1000/mcl is considered mild neutropenia, 500-1,000/mL - moderate, less than 500 - severe neutropenia (agranulocytosis).

Immune dysregulation syndrome, polyendocrinopathy, enteropathy (IPEX)

Immunodysregiilation, Polyendocrinopathy, and Enteropathy (X-Linked - IPEX) is a rare, severe disorder. It was first described over 20 years ago in a large family where sex-linked inheritance was identified.

Autoimmune lymphoproliferative syndrome

Autoimmune lymphoproliferative syndrome (ALPS) is a disease that is caused by congenital defects in Fas-mediated apoptosis. It was described in 1995, but since the 1960s a disease with a similar phenotype has been known as CanaLe-Smith syndrome.