Other Health Concerns
Individuals diagnosed with Kostmann syndrome or severe congenital neutropenia are now living longer than ever before, surpassing their first year of life. However, as they grow older, they may face several health challenges. Approximately 40 percent of patients experience osteopenia, a condition characterized by weakened bones that are more susceptible to fractures. Osteopenia can occur at any age. Additionally, around 20 percent of individuals with Kostmann syndrome may develop leukemia or another form of blood cancer during adolescence. Other potential issues that may arise include developmental delays, seizures, and abnormalities in the heart.
Causes of Severe Congenital Neutropenia
Severe congenital neutropenia is a condition that is caused by several gene mutations. These mutations can have various effects on the neutrophils, which are a type of white blood cell responsible for fighting off infections. Some gene mutations cause the neutrophils to die off quickly or function improperly, while others cause proteins to accumulate in the neutrophils. This accumulation can lead to cell death or interfere with the maturation and function of the neutrophils.
Experts have identified specific genes that are involved in severe congenital neutropenia. Approximately 50 percent of Kostmann syndrome cases are a result of mutations in the ELANE gene, while 10 percent are caused by mutations in the HAX1 gene.