Kostmann syndrom
Også kjent som: Infantile granulocytosis, severe congenital neutropenia type 3
Engelsk navn: Kostmann syndrome
Engelske synonym: Infantile agranulocytosis,Severe congenital neutropenia type 3
Definisjon
Kostmann syndrome is a rare, severe, congenital neutropenia disorder characterized by a lack of mature neutrophils (absolute neutrophil counts less than 500 cells/mm3) associated with frequent, recurrent bacterial infections (e.g. otitis media, pneumonia, sinusitis, urinary tract infections, abscesses of skin and/or liver) and increased promyelocytes in the bone marrow. Periodontal disease, as well as neurological symptoms, such as cognitive impairment, severe neurodegeneration and epilepsy, have been reported in some patients.
Fra Orphanet
ORPHA: 99749
Klassifiseringsnivå: Disorder
ICD-10: D70
