What is Kostmann's syndrome?

Kostmann's syndrome is inherited diseases in which the number of certain white blood cells, known as neutrophils, is too low. Because these white blood cells help people fight invasive bacteria, patients with kostmann syndrome are unusually susceptible to infections. Without treatment, most of the 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's syndrome, Kostmann's disease and severe congenital neutropenia. This disease only develops in people who have two copies of the gene, which means it is classified as a state of autosomal recessive type. Until they create a child with a disorder, both parents do not know that they bear the gene for Kostmann syndrome because the carriers do not experience any symptoms of the disease. Abnormally low Number neutrophils observed in people with Kostmann syndrome is known as neutropenia.

Normally these diseases begin to inquire about itsTomos in the first years of life. Disabled children can develop fever and infections may occur in different parts of the body such as leather, lungs or intestines. There may be abscesses or cooking and infants may seem unusually irritated. Usually observed infections are caused by bacteria and the number of infections caused by fungi and viruses is not greater than usual.

The diagnosis of Kostmann syndrome involves the use of blood samples and counting the number of neutrophils present. Although the number of neutrophils may be low, the total number of white blood cells may seem normal, as some other white cells could increase the amount simultaneously. For this reason, the number of blood cells is analyzed in detail. The bone marrow sample may be required to be a solid diagnosis because the blood cells are produced inside the marrow. This sample generally shows that neutrophils do not remain properly.

Doctors treat Kostmann's syndrome Pby sliding a substance known as a factor stimulating a colony of granulocytes. This stimulates bone marrow to create a larger number of neutrophils, which increases the amount of neutrophils in circulation. Patients can then be able to fight bacterial infections. Where such treatment does not work, bone marrow transplantation may be necessary, providing new marrows to normally produce neutrophils. Although treatment may prolong life in patients with Kostmann syndrome, they have an increased risk of developing leukemia compared to the population as a total.