Chediak-Higashi Syndrome

Chediak-Higashi syndrome

The Chediak-Higashi syndrome is a rare, autosomal recessive syndrome, which is characterized by impaired lysis phagocytosed bacteria with subsequent recurrent bacterial, respiratory and other diseases, as well as oculocutaneous albinism.

(See also Overview of Immunodeficiency Disorders and approach to the patient with an immunodeficiency disorder.)

The Chediak-Higashi syndrome is a rare, autosomal recessive syndrome, which is characterized by impaired lysis phagocytosed bacteria with subsequent recurrent bacterial, respiratory and other diseases, as well as oculocutaneous albinism. (See also Overview of Immunodeficiency Disorders and approach to the patient with an immunodeficiency disorder.) The Chediak-Higashi syndrome is a rare, autosomal recessive primary immunodeficiency disease, belong to the phagocytic cell defects. The syndrome is caused by a mutation in LYST; causing gene (lysosomal transport regulator CHS1). The development of very large lysosomal granules in neutrophils and other cells (eg. B. melanocytes and neural Schwann cells) is typical. The abnormal lysosomes can not merge with phagosomes and thus picked bacteria are lysed not normal. Symptoms and signs Clinical findings of Chediak-Higashi syndrome include oculocutaneous albinism and susceptibility to respiratory and other infections. In about 80% of patients develop an accelerated phase, which resulted in fever, jaundice, hepatosplenomegaly, lymphadenopathy, pancytopenia, hemorrhagic diathesis and neurological changes can occur. the accelerated phase occurs only once on the syndrome usually results within 30 months of death. Diagnostic genetic tests neutropenia, decreased natural cytotoxicity of killer cells and hypergammaglobulinemia are common. A smear of peripheral blood is examined for giant granules in neutrophils and other cells; a Knochenmarksausstrich is examined for inclusion of giant particles in leukocyte progenitors. The diagnosis of Chediak-Higashi syndrome can be confirmed on LYST mutations by genetic testing. Because this disease is extremely rare, it is not necessary to check Related thereon, unless a clinical suspicion. Supportive therapy treatment with antibiotics, interferon-gamma and sometimes corticosteroids Hematopoietic stem cell transplantation Prophylactic antibiotics can help to prevent infection, and interferon gamma can help restore some function of the immune system. Pulse doses of corticosteroids and splenectomy sometimes induce temporary remission. However, unless a hematopoietic stem cell transplant is performed, most patients die by the age of 7 years from infection. The transplantation of unfractionated HLA-identical bone marrow after cytoreductive chemotherapy before the transplant could be healing effect. The 5-year survival rate after transplantation is about 60%.

Health Life Media Team

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