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Chediak-Higashi syndrome: causes, symptoms, diagnosis, treatment
Last reviewed: 23.04.2024
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Chediak-Higashi syndrome is characterized by impaired lysis of phagocytosed bacteria, resulting in the development of recurrent bacterial respiratory and other infections, albinism of the skin and eyes are also noted.
Chediak-Higashi syndrome is rare, inherited by autosomal recessive type. The syndrome is a consequence of the mutation of the gene responsible for the regulation of intracellular protein transport. In neutrophils and other cells (melanocytes, Schwann cells) huge lysosomal granules are formed. Abnormal lysosomal granules can not merge with phagosomes, so the absorbed bacteria are not lysed.
Clinical manifestations include albinism of the eyes and skin, susceptibility to respiratory and other infections. In 85% of patients acute development of the disease with fever, jaundice, hepatosplenomegaly, lymphadenopathy, pancytopenia, hemorrhagic diathesis and neurologic changes is noted. The acute development of the disease in Chediak-Higashi syndrome is usually fatal within 30 months. Transplantation of unfractionated HbA-identical bone marrow can be successful after pre-transplantation cytoreductive chemotherapy.
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