Short answer · Medically reviewed summary · Last updated: 2023-07-13
Kostmann Syndrome, also known as severe congenital neutropenia (SCN), is a rare genetic disorder characterized by a severe decrease in the number of neutrophils, a type of white blood cell that plays a crucial role in fighting off bacterial infections. This condition is typically present from birth and can lead to recurrent and life-threatening infections. Individuals with Kostmann Syndrome often experience symptoms such as frequent respiratory tract infections, skin infections, and oral ulcers.
Kostmann Syndrome synonyms
Other names for Kostmann Syndrome: synonyms, acronyms and related terms used by doctors and patients.
Kostmann Syndrome, also known as severe congenital neutropenia (SCN), is a rare genetic disorder characterized by a severe decrease in the number of neutrophils, a type of white blood cell that plays a crucial role in fighting off bacterial infections. This condition is typically present from birth and can lead to recurrent and life-threatening infections.
Individuals with Kostmann Syndrome often experience symptoms such as frequent respiratory tract infections, skin infections, and oral ulcers. These infections can be severe and difficult to treat, requiring immediate medical attention. The low neutrophil count in affected individuals also increases their susceptibility to bacterial infections.
Other synonyms for Kostmann Syndrome include:
- Infantile genetic agranulocytosis: This term refers to the absence of granulocytes, including neutrophils, in infants with the condition.
- Severe infantile agranulocytosis: This term emphasizes the severe nature of the neutropenia in affected infants.
- Severe congenital neutropenia with maturation arrest: This term highlights the developmental arrest of neutrophils in affected individuals.
- Severe congenital neutropenia with neutrophilic maturation arrest: This term further emphasizes the maturation arrest of neutrophils.
Early diagnosis of Kostmann Syndrome is crucial to ensure appropriate management and treatment. Genetic testing can confirm the presence of mutations in the ELANE gene, which is responsible for most cases of this condition. Treatment typically involves the administration of granulocyte colony-stimulating factor (G-CSF) to stimulate the production of neutrophils.
In summary, Kostmann Syndrome, also known as severe congenital neutropenia, is a rare genetic disorder characterized by a severe decrease in neutrophils, leading to recurrent and life-threatening infections. Synonyms for this condition include infantile genetic agranulocytosis, severe infantile agranulocytosis, severe congenital neutropenia with maturation arrest, and severe congenital neutropenia with neutrophilic maturation arrest.
