Periodic neutropenia

Periodic Neutropenia is a rare genetic disorder characterized by recurrent episodes of neutropenia. It is also known as Cyclic Neutropenia.

Overview

Periodic Neutropenia is a condition that is typically present from birth and is caused by mutations in the ELANE gene. This gene provides instructions for making a protein called neutrophil elastase, which is involved in the maturation of neutrophils, a type of white blood cell that plays a crucial role in the immune system.

Symptoms

The primary symptom of Periodic Neutropenia is a recurrent decrease in the number of neutrophils, which typically occurs every three weeks and lasts for about three to six days. This decrease in neutrophils makes individuals with Periodic Neutropenia more susceptible to infections, which can lead to additional symptoms such as fever, swollen lymph nodes, and mouth ulcers.

Diagnosis

Diagnosis of Periodic Neutropenia is typically based on the presence of recurrent episodes of neutropenia and can be confirmed through genetic testing to identify mutations in the ELANE gene.

Treatment

Treatment for Periodic Neutropenia primarily involves managing symptoms and preventing infections. This can include the use of antibiotics and a medication called granulocyte colony-stimulating factor (G-CSF), which can help to increase the number of neutrophils.

See Also

• Neutropenia
• ELANE
• Neutrophil

Periodic neutropenia Resources
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