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Kostmann's Agranulocytosis
Wednesday, 16 July 2003
Monday, 12 January 2004
Infantile Genetic Agranulocytosis or Kostmann's Neutropenia

What

Kostmann’s agranulocytosis is a condition that causes low levels of white blood cells at birth. The low level of white blood cells is due mainly to the extremely low levels of a specific type of white blood cell called neutrophils. Neutrophils are part of a group of white blood cells that are one of the body’s first line of defense against many bacterial infections. Because neutrophils play a role in the defense of the body against infection, children with this condition will be at risk for infection due to the reduced levels. Kostmann’s Agranulocytosis may also be called Kostmann’s Neutropenia, or congenital neutropenia.

Who

The incidence of neutropenia in general is estimated at 1-2 cases per million internationally.

Signs and Symptoms

Here are some of the signs and symptoms that may be found in children with Kostmann’s agranulocytosis: A variety of frequent infections, the most common including skin abscesses, ear infections, sinusitis and gingivitis. Oral ulcers Unstable temperature with fevers at birth and early infancy Extremely low levels of neutrophils on blood counts Irritability

Possible Causes

The cause of the signs and symptoms of Kostmann’s agranulocytosis is due to the low levels of neutrophils. The cause of the low levels of neutrophils is not entirely known. It is clear that is it related to genetics. Patterns of disease in families with the disease show that the disease is inherited as an autosomal recessive condition. It is referred to as “autosomal” because it is clear that the gene responsible does not lie on the sex chromosomes, X and Y. It is referred to as “recessive” because it takes two broken copies of the gene (as opposed to one broken copy in dominant inherited diseases) to have the disease. Some individuals with this condition may have it as a result of a change to a gene on chromosome 1 that codes for the G-CSF receptor, however this is extremely unusual. Individuals with this type of mutation will not likely respond to G-CSF treatment. If there is no family history of the disease, it is often called congenital neutropenia, but these are probably the same disease, and are treated identically.

Diagnosis

If a child is having reoccurring infections, the physician may first order some blood work called a complete blood count (CBC) to determine the levels of the various blood cell types in the child’s body. To specifically determine the levels of neutrophils in the body, an ANC or absolute neutrophil count may be ordered. If the levels of neutrophils are proven to be low, the blood work may be repeated to confirm the levels or a sample of bone marrow may be taken to further assess the level of neutrophils. Bone marrow is a liquid like substance in the center of bone that is the birth place for blood cells. Determining the levels of various blood cell types at that location can be helpful in determining at what part of the development of the cell the problem occurs. Patients with Kostmann’s agranulocytosis will have low levels of neutrophils in their bone marrow. Sometimes multiple repeated blood tests are needed to exclude the other, more common cause of low neutrophil counts, a disease called cyclic neutropenia.

Treatment

The treatment for Kostmann’s agranulocytosis may vary depending on the specific conditions related to the child. The child may be given a substance called G-CSF or granulocyte-colony stimulating factor. This substance is normally produced by the body and helps the immature blood cells grow into neutrophils. This treatment will be life long. The child will also need life long monitoring of his/her CBC to make sure the levels of neutrophils are being properly maintained.

Prognosis

The prognosis of a child diagnosed with Kostmann’s agranulocytosis will depend largely on how well he/she responds to treatment and how many severe infections the child contracts. Regardless, the child will need life long treatment and close monitoring. Infants with Kostmann’s agranulocytosis are at an increased risk for developing leukemia later in life.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

Neutropenia Support Association
This is a comprehensive website that provides a lot of great, easy to read material.

Medicine net 
A easy to read asticle on Kostmann's Agranulocytosis.

E-Medicine 
A well written, detailed article on the disease.

Google Search for Kostmann's Agranulocytosis

References and Sources

www.neutropenia.ca www.emedicine.com www.ich.ucl.ac.uk