Kostmann disease
Kostmann Disease
Kostmann disease (pronounced: kohst-mahn disease), also known as Kostmann syndrome or Severe Congenital Neutropenia (SCN), is a rare, inherited disorder characterized by a severe deficiency of neutrophils, a type of white blood cell that plays a crucial role in the body's immune response.
Etymology
The disease is named after the Swedish physician Rolf Kostmann, who first described the condition in 1956. The term "neutropenia" comes from the Greek words "neutros" (meaning neutral) and "penia" (meaning deficiency).
Symptoms
Patients with Kostmann disease typically present with recurrent bacterial infections from an early age, often leading to conditions such as pneumonia, otitis media, gingivitis, and skin abscesses. These infections can be life-threatening if not treated promptly.
Diagnosis
Diagnosis of Kostmann disease is based on clinical findings, a complete blood count (CBC), and specialized laboratory tests that can identify the specific genetic mutation responsible for the condition.
Treatment
Treatment for Kostmann disease primarily involves managing symptoms and preventing infections. This may include the use of antibiotics, granulocyte colony-stimulating factor (G-CSF) to stimulate the production of neutrophils, and in severe cases, bone marrow transplantation.
Prognosis
With early diagnosis and appropriate treatment, individuals with Kostmann disease can lead relatively normal lives. However, they may have a higher risk of developing myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML) in later life.
See Also
References
- Kostmann R. Infantile genetic agranulocytosis; agranulocytosis infantilis hereditaria. Acta Paediatr Suppl. 1956;45(Suppl 105):1-78.
External links
- Medical encyclopedia article on Kostmann disease
- Wikipedia's article - Kostmann disease
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