Chediak-Higashi Syndrome

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The Chediak-Higashi Syndrome (CHS), also Chediak-Steinbrinck-Higashi Syndrome , is a very rare hereditary disease that is increasingly observed in Jewish population groups.

diagnosis

Chediak-Higashi syndrome manifests itself with oculo-cutaneous albinism (decreased pigmentation), silvery-blond hair, hepatosplenomegaly , ganglion hypertrophy, and recurrent purulent infections of the skin and respiratory tract.

In the peripheral blood count , a granulation abnormality of the leukocytes and lymphocytes (giant granules ) as well as plasmatic inclusion bodies in the myeloid cells in the bone marrow are visible. In prenatal diagnosis , the disease can be determined by a fetal blood test or a skin-hair biopsy .

root cause

The autosomal recessive inheritance

The syndrome is autosomal - recessive inherited. The CHS gene is on the long arm of chromosome 1 , gene locus q42.1 – q42.2. Symptoms are caused by dysfunction of the polymorphonuclear leukocytes (they contain characteristic large lysosomal vacuoles) and a deficiency of natural killer (NK) lymphocytes. The investigation of an animal model, the beige mouse, led to the discovery of the cause, mutations in the gene for the LYST protein, whose function is not yet known.

Chediak-Higashi syndrome is usually associated with aggressive periodontitis .

therapy

The disease can be treated with bone marrow transplantation .

forecast

Life expectancy is greatly reduced. Most children suffering from CHS do not reach the second decade of life as a result of the infections or the development of malignant tumors .

See also

Individual evidence

  1. ^ B. Leiber: The clinical syndromes. Syndromes, sequences and symptom complexes. Volume 2: Symptoms. Edited by G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger, 7th edition. Urban & Schwarzenberg, 1990, ISBN 3-541-01727-9 .
  2. ↑ a b c d B. Kugel et al .: Periodontitis as a symptom of syndrome diseases. ( Memento of the original from June 6, 2007 in the Internet Archive ) Info: The archive link was automatically inserted and not yet checked. Please check the original and archive link according to the instructions and then remove this notice. In: Dental communications. 3/2003, p. 46. @1@ 2Template: Webachiv / IABot / www.zm-online.de

literature

  • J. Wolf et al .: The Chediak-Higashi syndrome. In: The neurologist. 77/2006, pp. 148-157.