Chédiak-Higashi syndrome
| Chédiak-Higashi syndrome | |
| ICD-10 | E70.3 (E70.340 ILDS) |
|---|---|
| ICD-9 | 288.2 |
| OMIM | 214500 |
| DiseasesDB | 2351 |
| eMedicine | derm/704 |
| MeSH | D002609 |
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Overview
Chédiak-Higashi syndrome is a rare childhood autosomal recessive disorder that affects multiple systems of the body, and arises from a mutation in the lysosomal trafficking regulator gene, LYST.
It is a disease with impaired bacteriolysis due to failure of phagolysosome formation. As a result of disordered intracellular trafficking there is impaired lysosome degranulation with phagosomes, so phagocytosed bacteria are not destroyed by the lysosome's enzymes.
In addition, secretion of lytic secretory granules by cytotoxic T cells is also affected.
The disease is characterised by large lysosome vesicles in phagocytes (neutrophils), which thus have poor bactericidal function, leading to susceptibility to infections, abnormalities in nuclear structure of leukocytes, anaemia, and hepatomegaly.
Causes
Chédiak–Higashi syndrome is caused by mutations in the LYST gene. This gene provides instructions for making a protein known as the lysosomal trafficking regulator. Researchers believe that this protein plays a role in the transport (trafficking) of materials into structures called lysosomes. Lysosomes act as recycling centers within cells. They use digestive enzymes to break down toxic substances, digest bacteria that invade the cell, and recycle worn-out cell components. Although the lysosomal trafficking regulator protein is involved in the normal function of lysosomes, its exact role is unknown.[1]
Clinical findings
There are several manifestations of Chediak-Hegashi syndrome as mentioned above; however, neutropenia seems to be the most common. The syndrome is also associated with oculocutaneous albinism. Persons are also prone for infections, especially with Staph. Aureus.
Associated features: Abnormalities in melanocytes (albinism), nerve defects, bleeding disorders.
Treatment
There is no specific treatment for Chédiak–Higashi syndrome. Bone marrow transplants appear to have been successful in several patients. Infections are treated with antibiotics and abscesses are surgically drained when appropriate. Antiviral drugs such as acyclovir have been tried during the terminal phase of the disease. Cyclophosphamide and prednisone have been tried. Vitamin C therapy has improved immune function and clotting in some patients.
See also
- Griscelli syndrome (also known as "Chédiak-Higashi like syndrome")
References
- ↑ "Chediak–Higashi syndrome". Retrieved 2008-11-06.