Myelokathexis

Myelokathexis is a rare congenital disorder characterized by a failure of neutrophils, a type of white blood cell, to enter the bloodstream from the bone marrow. This results in severe neutropenia, or a low neutrophil count, leading to increased susceptibility to bacterial infections. The term "myelokathexis" comes from the Greek words "myelo" (marrow) and "kathexis" (retention), reflecting the retention of neutrophils in the bone marrow.

Causes

Myelokathexis is caused by mutations in the CXCR4 gene. This gene provides instructions for making a protein that is involved in the movement of cells, including neutrophils. Mutations in the CXCR4 gene disrupt the normal movement of neutrophils, causing them to be retained in the bone marrow.

Symptoms

The main symptom of myelokathexis is recurrent bacterial infections, which can be severe and life-threatening. These infections can affect various parts of the body, including the skin, lungs, and urinary tract. Other symptoms may include fever, fatigue, and weight loss.

Diagnosis

Myelokathexis is diagnosed based on the clinical symptoms, a complete blood count showing neutropenia, and a bone marrow examination showing an increased number of mature neutrophils. Genetic testing can confirm the diagnosis by identifying a mutation in the CXCR4 gene.

Treatment

Treatment for myelokathexis is aimed at managing the symptoms and preventing infections. This may include antibiotics to treat existing infections and prophylactic antibiotics to prevent new infections. In severe cases, a bone marrow transplant may be considered.

See also

• Neutropenia
• Congenital disorders
• Bone marrow transplant

References

Myelokathexis Resources
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