Kostmann syndrome is an inherited disease causing low levels of neutrophils, making patients vulnerable to bacterial infections. Treatment with granulocyte colony-stimulating factor can increase neutrophil production, but patients are at a higher risk of developing leukemia.
Kostmann syndrome is an inherited disease in which the number of certain white blood cells, known as neutrophils, is too low. Because these white blood cells help people fight off invading bacteria, patients with Kostmann syndrome are unusually vulnerable to infection. Without treatment, most children born with the disorder would not survive their first year. Treatment with a substance that stimulates neutrophil production allows patients to survive into adulthood. The condition is also known as Kostmann syndrome, Kostmann disease, and severe congenital neutropenia.
Patients with Kostmann syndrome inherit one abnormal gene from each parent. The disease only develops in people who have two copies of the gene, which means it is classified as an autosomal recessive condition. Until they produce a child with the disease, both parents will remain unaware that they carry a gene for Kostmann syndrome, as the carriers experience no symptoms of the disease. The abnormally low number of neutrophils seen in people with Kostmann syndrome is known as neutropenia.
Normally, the disease begins to show its presence in the first years of life. Affected children can develop fever and infections can arise in different parts of the body such as the skin, lungs or intestines. Abscesses or boils may occur, and children may appear unusually irritable. Typically, the infections seen are all caused by bacteria, and the number of infections caused by fungi and viruses is not higher than usual.
Diagnosing Kostmann syndrome involves taking blood samples and counting the number of neutrophils present. Even though the neutrophil count may be low, the overall number of white blood cells may appear normal, because some other white blood cells may increase in number at the same time. For this reason, the blood cell count is analyzed in detail. You may need a bone marrow sample to make a definitive diagnosis, as blood cells are made inside the marrow. This sample generally shows that the neutrophils are not maturing properly.
Doctors treat Kostmann syndrome by giving a substance known as granulocyte colony-stimulating factor. This encourages the bone marrow to produce more neutrophils, increasing the amount of neutrophils in circulation. Patients may then become able to fight off bacterial infections. Where such treatment doesn’t work, a bone marrow transplant may be needed, which gives the new marrow the ability to produce neutrophils normally. Although treatment can prolong the lives of patients with Kostmann syndrome, they are at a higher risk of developing leukemia than the population as a whole.
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