Syndrome of Chediaka-Higasi
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Description:
Syndrome of Chediaka-Higasi (in English Chediak-Higashi syndrome, CHS) - a disease with generalized cellular dysfunction. A mode of inheritance - autosomal and recessive. It is caused by defect of a Lyst-protein. A characteristic sign of this syndrome - huge peroksidazopolozhitelny granules in neutrophils, eosinophils, monocytes of peripheral blood and marrow, and also in cells predecessors of granulocytes. Huge granules find also in the circulating lymphocytes, cytoplasm of neurons and connective tissue cells of perineural area.
Chediaka-Higasha's syndrome - the rare disease which is characterized by heavy repeated purulent infections, partial albinism, the progressing neuropathy, tendency to bleedings, development of a limfoproliferativny syndrome, and also existence of huge granules in many cells, especially in leukocytes of peripheral blood. The immunodeficiency at Chediaka-Higasha's syndrome is caused, first of all, dysfunction of phagocytosis in cells of a granulotsitarny and macrophagic row and is shown by tendency to purulent and fungal infections. Bleeding is connected with defect of release of fombotsitarky granules.
The first mentioning of Chediaka-Higasha's syndrome belongs to 1943 {Beguez Cesar). We find further descriptions at Steinbrinck 1948, Chediak 1952 and, at last, at Higashi 1954.
Sindroma Chediaka-Higasi symptoms:
Clinical manifestations of a syndrome of Chediaka-Higasi - recurrent piogenic infections, are characteristic partial albinism of hair, skin and an eye, photophobia. Soon after the birth there is a torpid phase of a disease connected with anomaly of antibody formation to the Epstayna-barrel virus. Clinically against the background of a bacterial or viral infection the secondary haemo phagocytal syndrome develops; fever, a pancytopenia with a hemorrhagic syndrome, a lymphadenopathy, a gepatosplenomegaliya, neurologic symptomatology - episodes of spasms, sensitivity disturbance, paresis, cerebellar disturbances, mental retardation. The forecast is adverse.
Huge granules of phagocytes at a syndrome of Chediaka-Higasi
Sindroma Chediaka-Higasi reasons:
Mode of inheritance - autosomal and recessive. It is caused by defect of a Lyst-protein. The pathogeny of a disease is connected with anomaly of structure of cellular membranes, disturbance of system of collective microtubules and defect of interaction of the last with membranes of lysosomes. The most part of clinical manifestations can be explained with abnormal distribution of lizosomalny enzymes. Frequency and weight of piogenic infections is caused by decrease of the activity of oxygen metabolism and intracellular digestion of microbes in phagocytes owing to a delay and non-constant release of hydrolytic lizosomalny enzymes from huge granules in phagosomas. Besides, at patients activity of natural killers and antitelozavisimy cytotoxicity of lymphocytes are reduced. The disease is carried to primary immunodeficiences.
Sindroma Chediaka-Higasi treatment:
At treatment of a syndrome of Chediaka-Higasi symptomatic measures, protection of skin and eyes from insolation are taken. In treatment of infectious episodes - a combination of antibiotics of a broad spectrum of activity. At development of a hemophagocytosis the polychemotherapy with inclusion of glyukokortikoseroid (preferential dexamethasone), Vincristinum, an etopozid, endolumbar introductions of a methotrexate, replacement therapy by blood components is shown. The only radical method of treatment, as well as at many other primary immunodeficiences, - allogenic transplantation of marrow.
