Kostmann Syndrome is a rare genetic disorder characterized by severe congenital neutropenia, leading to recurrent bacterial infections. It is estimated to affect approximately 1 in every 1 million individuals worldwide. The condition is typically diagnosed in infancy or early childhood and can have life-threatening complications if not properly managed. Early recognition and treatment are crucial for improving outcomes. While the prevalence of Kostmann Syndrome is low, advancements in genetic testing and research continue to enhance our understanding of this condition.
Kostmann Syndrome, also known as severe congenital neutropenia type 1, is a rare genetic disorder characterized by a severe decrease in neutrophils, a type of white blood cell essential for fighting infections. This condition is inherited in an autosomal recessive manner, meaning both parents must carry a copy of the mutated gene for their child to be affected.
The prevalence of Kostmann Syndrome is estimated to be extremely low, with only a few hundred cases reported worldwide. Due to its rarity, it is challenging to determine an exact prevalence rate. However, it is believed to occur in approximately 1 in every 1 million individuals.
Individuals with Kostmann Syndrome often experience recurrent and severe bacterial infections, particularly in the respiratory tract. Symptoms typically appear in infancy, and affected individuals may require lifelong treatment with granulocyte colony-stimulating factor (G-CSF) to stimulate the production of neutrophils.
Early diagnosis and appropriate management are crucial in improving the quality of life for individuals with Kostmann Syndrome. Genetic counseling is recommended for families with a history of the condition to understand the risks and options available.