Kostmann syndrome

Kostmann syndrome
Synonyms	Severe congenital neutropenia
Pronounce	N/A
Specialty	N/A
Symptoms	Recurrent infections, fever, mouth ulcers
Complications	N/A
Onset	Infancy
Duration	Lifelong
Types	N/A
Causes	Genetic mutations
Risks	Infections
Diagnosis	Blood tests, genetic testing
Differential diagnosis	N/A
Prevention	N/A
Treatment	Granulocyte colony-stimulating factor, antibiotics
Medication	N/A
Prognosis	Variable
Frequency	N/A
Deaths	N/A

Kostmann syndrome, also known as severe congenital neutropenia, is a rare hematological disorder characterized by a severe reduction in the number of neutrophils, a type of white blood cell essential for fighting bacterial infections. This condition leads to increased susceptibility to infections, particularly during infancy and early childhood.

Etiology

Kostmann syndrome is primarily caused by mutations in the ELANE gene, which encodes neutrophil elastase, an enzyme crucial for the normal function of neutrophils. Other genetic mutations, such as those in the HAX1 gene, have also been implicated in the pathogenesis of the disease. These mutations result in the impaired production or increased apoptosis of neutrophils, leading to neutropenia.

Clinical Presentation

Patients with Kostmann syndrome typically present in infancy with recurrent bacterial infections. Common manifestations include:

• Fever
• Oral ulcers
• Skin infections
• Respiratory tract infections
• Otitis media

Due to the lack of neutrophils, these infections can be severe and life-threatening if not promptly treated.

Diagnosis

The diagnosis of Kostmann syndrome is based on clinical evaluation, blood tests showing severe neutropenia, and genetic testing to identify mutations in the ELANE or HAX1 genes. Bone marrow examination may reveal a maturation arrest of myeloid cells.

Management

The mainstay of treatment for Kostmann syndrome is the administration of granulocyte colony-stimulating factor (G-CSF), which stimulates the production of neutrophils. This treatment significantly reduces the frequency and severity of infections. Prophylactic antibiotics may also be used to prevent infections.

In some cases, hematopoietic stem cell transplantation may be considered, especially if the patient does not respond adequately to G-CSF therapy.

Prognosis

With appropriate treatment, many patients with Kostmann syndrome can lead relatively normal lives, although they remain at risk for infections. The prognosis varies depending on the severity of the neutropenia and the response to treatment.

Also see

• Neutropenia
• Granulocyte colony-stimulating factor
• Hematopoietic stem cell transplantation
• Genetic disorders