Chédiak-Higashi Syndrome
Description
Chédiak-Higashi Syndrome (CHS) is a rare, autosomal recessive genetic disorder that affects the immune system, pigmentation, and neurological development. Individuals with CHS experience a variety of symptoms, including albinism, recurrent infections, and neurological problems. This blog provides an overview of CHS, focusing on its signs, causes, diagnosis, management, and strategies for thriving with this condition.
Genes Involved
Genes Involved in Chédiak-Higashi Syndrome:
CHS is caused by mutations in the LYST gene. This gene provides instructions for making a protein called lysosomal trafficking regulator (LYST). LYST plays a crucial role in the transport and fusion of lysosomes, which are organelles responsible for breaking down cellular waste.
Recognizing the Signs and Symptoms
Recognizing the Signs and Symptoms of Chédiak-Higashi Syndrome:
- Albinism: CHS is characterized by hypopigmentation, meaning reduced melanin production. This results in pale skin, hair, and eyes.
- Recurrent Infections: Individuals with CHS are highly susceptible to infections due to impaired immune function. They often experience frequent bacterial and fungal infections.
- Neurological Problems: CHS can lead to neurological issues, including peripheral neuropathy, seizures, and progressive neurodegeneration.
- Giant Granules in Cells: A hallmark feature of CHS is the presence of abnormally large granules within white blood cells and other cell types.
- Other Potential Symptoms: Additional symptoms may include nystagmus (involuntary eye movements), hepatosplenomegaly (enlarged liver and spleen), and bleeding problems.
Causes
Causes of Chédiak-Higashi Syndrome:
CHS is an autosomal recessive genetic disorder. This means that an individual must inherit two copies of the mutated LYST gene, one from each parent, to develop the condition. If an individual inherits only one copy of the mutated gene, they are a carrier but do not typically have symptoms.
Inheritance/recurrence risk
Inheritance and Recurrence Risk:
- Autosomal Recessive Inheritance: Each parent carries one copy of the mutated LYST gene and one copy of the normal gene. There is a 25% chance with each pregnancy that a child will inherit two copies of the mutated gene and develop CHS.
- Recurrence Risk: If parents have one child with CHS, there is a 25% chance that each subsequent child will inherit the disorder.
