Severe Congenital Neutropenia

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Severe Congenital Neutropenia Facts

Neutropenia is the term used to describe the condition of having a low number of neutrophils in the body. Neutrophils are a type of white blood cell that protects the body from bacterial infections.

There are several forms of congenital neutropenia, which affect less than one in 200,000 children. Some forms are more severe than others, depending on the neutrophil counts and other clinical problems.

One form is called severe congenital neutropenia or Kostmann’s syndrome where neutrophils are severely reduced from birth. Children are treated with recombinant human granulocyte colony-stimulating factor (GCSF).

Children diagnosed with this disease are at increased risk for leukemia later in life.

Symptoms

Infections are the most common symptom for this disease. The lower the level of neutrophils in the body, the bigger the risk for infections to occur. Most of the infections occur in the mouth, throat, sinuses, lungs, and skin. Painful mouth ulcers, gum infections, ear infections, and periodontal disease are common. Severe, life-threatening infections may occur. Fevers must be taken seriously and your doctor or nurse should be consulted immediately.  Children often require hospitalization and receive intravenous antibiotics for their infections.

Severe neutropenia can lead to the development of bacterial, fungal, or mixed infections which can become life threatening.

Diagnosis

Evaluation for Severe Congenital Neutropenia includes a detailed medical history, careful physician examination and blood tests which includes a full blood count to measure the neutrophils in the blood. When the diagnosis is uncertain, a bone marrow exam is often required.  Genetic testing may be sent to confirm the diagnosis. 

Genetics

There are several genes responsible for these syndromes. ELA2 (which was discovered  at the University of Washington), HAX1, and a mutation in the gene Glucose-6-phosphatase, catalytic subunit 3 (G6PC3), which was discovered by an international team of scientists. These findings will be important to targeting therapies in the future.  Many patients have no identifiable mutations in these genes, so it is likely that additional genes remain to be identified.