Kostmann disease

Kostmann disease
Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Severe neutropenia, recurrent infections
Complications	N/A
Onset	Infancy
Duration	N/A
Types	N/A
Causes	Genetic mutation in the ELANE gene
Risks	N/A
Diagnosis	Blood test, genetic testing
Differential diagnosis	N/A
Prevention	N/A
Treatment	Granulocyte colony-stimulating factor (G-CSF), bone marrow transplant
Medication	N/A
Prognosis	Variable, improved with treatment
Frequency	N/A
Deaths	N/A

Kostmann disease, also known as severe congenital neutropenia, is a rare hematological disorder characterized by a severe reduction in neutrophils, a type of white blood cell essential for fighting off infections. This condition leads to recurrent bacterial infections, often beginning in infancy.

Etiology

Kostmann disease is primarily caused by mutations in the ELANE gene, which encodes neutrophil elastase, an enzyme crucial for the normal function of neutrophils. These mutations result in the impaired production or function of neutrophils, leading to severe neutropenia.

Clinical Presentation

Patients with Kostmann disease typically present in early infancy with recurrent and severe bacterial infections. Common infections include pneumonia, otitis media, and skin infections. Due to the lack of neutrophils, these infections can be life-threatening if not promptly treated.

Diagnosis

The diagnosis of Kostmann disease is based on clinical findings and laboratory tests. A complete blood count (CBC) will reveal severe neutropenia. Genetic testing can confirm mutations in the ELANE gene or other related genes. Bone marrow examination may show a maturation arrest of myeloid cells.

Treatment

The mainstay of treatment for Kostmann disease is the administration of granulocyte colony-stimulating factor (G-CSF), which stimulates the production of neutrophils. In some cases, patients may require a bone marrow transplant if they do not respond adequately to G-CSF therapy.

Prognosis

With appropriate treatment, the prognosis for individuals with Kostmann disease has improved significantly. However, there is a risk of developing myelodysplastic syndrome or acute myeloid leukemia over time.

Also see

• Neutropenia
• Granulocyte colony-stimulating factor
• Bone marrow transplant
• Myelodysplastic syndrome