Diseases of children (pediatrics)

Treatment of complications of cystic fibrosis

Newborns in the diagnosis of meconium ileus without perforation of the wall of the colon perform contrast enemas with a highly osmolar solution. When performing contrast enemas, you need to make sure that the solution reaches the ileum. This, in turn, stimulates the secretion of fluid into the lumen of the large intestine and the remaining meconium.

Family Mediterranean fever (periodic illness): symptoms, diagnosis, treatment

Familial Mediterranean fever (FMF), a recurrent disease, is a hereditary disease characterized by recurrent episodes of fever and peritonitis, sometimes with pleurisy, skin lesions, arthritis and very rarely pericarditis. Can develop amyloidosis of the kidneys, which can lead to kidney failure.

C1 inhibitor deficiency.

Deficiency of Cl-inhibitor (ClI) leads to the emergence of a characteristic clinical syndrome - hereditary angioedema (HAE). The main clinical manifestation of hereditary angioedema is the recurrent edema, which can threaten the life of the patient when developing in vital localizations.

Defects of congenital immunity and complement system

Defects of the complement system are the rarest variety of primary immunodeficiency states (1-3%). Hereditary defects of almost all components of complement are described. All genes (except for the gene forperdin) are found on autosomal chromosomes. The most common deficiency is the C2 component. Defects of the complement system are different in their clinical manifestations.

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

Defects that lead to a violation of interferon-gamma (INF-y) and interleukin-12 (11-12) -dependent pathway are characterized by hypersensitivity to mycobacterial and some other infections (Salmonella, viruses).

Defects of adhesion of leukocytes

Adhesion between leukocytes and endothelium, other leukocytes and bacteria is necessary to perform the basic phagocytic functions - moving to the focus of infection, communication between cells, the formation of an inflammation reaction. The main adhesion molecules include selectins and integrins. Defects of the adhesion molecules themselves or proteins involved in signal transmission from adhesion molecules lead to pronounced defects of the anti-infective response of phagocytes.

Treatment of chronic granulomatous disease

Earlier bone marrow transplantation (TCM) or hematopoietic stem cells (TSCC) in patients with chronic granulomatous disease was accompanied by a rather high failure rate. And often this was due to 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 neutropenia

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

Syndrome of immune dysregulation, polyendocrinopathy, enteropathy (IPEX)

X-linked immune dysregulation syndrome, polyendocrinopathy and enteropathy (Immunodysregiilation, Polyendocrinopathy, and Enteropathy, X-Linked - IPEX) is a rare serious disease. For the first time it was described more than 20 years ago in a large family, where sex-linked inheritance was revealed.

Autoimmune lymphoproliferative syndrome

Autoimmune lymphoproliferative syndrome (ALPS) is a disease that is based on birth defects of Fas-mediated apoptosis. It was described in 1995, but since the 1960s, a disease with a similar phenotype was known as the CanaLe-Smith syndrome.

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