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Syndrome of Chediaka-Higasi

The syndrome of Chediaka-Higasi (the disease is called on surnames of the Japanese doctor Higasi and Cuban Chediak) is inherited on autosomal recessively type and shown by recurrent infections, partial albinism of eyes and skin, photophobia, a nystagmus and neutrophils containing huge cytoplasmatic granules. Children of early age get sick usually, the death which reason are infections or malignant new growths, often occurs before achievement of age of 10 years by them. At babies the disease can quickly progress, but can proceed with recurrence of the infections proceeding not hard and at children of advanced age passes into the accelerated phase. From neurologic disturbances it should be noted defeat of a long path and a cerebellum, peripheral neuropathies and a delay of intellectual development.

In cytoplasm of all cells of a leukocytic number of peripheral blood and marrow, i.e. neutrophilic leukocytes, eosinophils, basophiles and monocytes, find abnormal granules. They contain the azurophilic and specific granular material provided by lysosomic enzymes, peroxidase and acid phosphatases. Abnormal granules and inclusions are present also at the lymphocytes, erythrocytes, skin fibroblasts which are grown up in culture, and thrombocytes. In process of progressing of a disease anemia, thrombocytopenia and an absolute leukopenia often develop. At autopsy find a widespread histiocytic infiltration practically of all body tissues.

Histiocytes, and also neurons and epithelium of renal tubules contain cytoplasmic inclusions. Neutrophils in the functional relation are defective that is shown by disturbances of a chemotaxis, process of degranulation and intracellular destruction of microorganisms. Decrease in the hemotaksichesky answer is defined by in vivo by a method of a skin window (Rebuck) and in vitro in Boyden's camera.

Speed of capture of particles leukocytes in the course of phagocytosis is higher also activity of the geksozomonofosfatny shunt of the cells which both are based, and englobing is twice higher in comparison with norm (by results of measurement of oxidation of I14C glucose). On the other hand, degranulation process is considerably broken as a result huge lysosomes do not merge with the englobing vacuoles. 15 min. later after absorption of bacteria in phagosomas only a small amount of peroxidase is found. Unlike neutrophils of sick HGB in sick cells with Chediak's syndrome — Higasi breaks ability to intracellular destruction of the microorganisms which are not containing a catalase (for example, streptococci). Process of destruction of albicans colibacillus C. neutrophils the first 20 min. an incubation proceeds very slowly, but later is normalized. Idea that processes of degranulation and a chemotaxis depend on functional full value of microcanalicular system gives the grounds to assume that its disturbances can lead to changes of function of neutrophils. Function of microcanalicular system of cells is regulated by a cyclic guanozinmonofosfat (tsGMF); cholinergic agents increase the level of intracellular tsGMF, accelerate assembly of microcanalicular system in neutrophils at healthy and increase function of leukocytes at Chediak's syndrome — Higasi. The tsAMF level in leukocytes of patients can be considerably increased; at one child after administration of ascorbic acid (200 mg/days) the tsAMF levels and function of neutrophils were normalized, however this treatment does not change the forecast.

"Drepanocytic anemia   Thalassemias"