Definition:
Kostmann Syndrome is a rare disease usually distinguished and identified soon after birth. This is an uncommon inherited type of Severe Chronic Neutropenia; which is a blood disorder marked by abnormally low number of neutrophil granulocytes. Neutrophils (a type of white blood cells) are essential for fighting infection. Kostmann syndrome was formerly presented and defined as an autosomal-recessive disorder, marked by early phase maturation arrest of myelopoiesis.
Kostmann Syndrome was named after Dr. Kostmann, a Swedish doctor who first discovered the disease in 1956.
Diagnosis:
The primary sign of Kostmann Syndrome shows an absolute neutrophil count (ANC) of unremittingly less than 500/mm3. To confirm diagnosis, a standard bone marrow test is necessary.
Symptoms and Signs:
Individuals suffering from Kostmann Syndrome manifest the following signs and symptoms:
* Recurring and persistent infections
* Presence of necrotic ulcers in the mucus membrane epithelium of the mouth
* Presence of necrotic ulcers in the genital mucosa
* Liver overcrowding or blockage
* Spleen overcrowding or blockage
Causes:
Despite the fact that the causal genetic defect in myeloid precursor cells is still not yet established, evidences of mutations in the gene (ELA2) encoding neutrophil elastase surface to most of the patients with Kostmann syndrome.
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