Cyclic neutropenia Please rate this page (bottom of page)

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Definition

Cyclic neutropenia is a blood disorder with periodic fever and an autosomal dominant inheritance and the ranks among the periodic fever syndromes / auto-inflammatory diseases. Mutations in the elastase gene (ELA2 = ELANE) on chromosome 19p13.3 have been identified as the cause

Occurrence

Inside 1-2 / mill / year. Prevalence 1-9 / 1 000.000.

  • Disease onset before two years of age is typical, but an adult / adult form also occurs

Symptoms and diagnosis

  • Cyclic fever every XNUM. day (21-XNUM days)
  • Duration 5-7 days. Wounds in the mouth (stomatitis)
  • Periodontitis, Gingivitis, pharyngitis
  • Bacterial Sepsis and rare infections. Often Clostridium septicum
  • Diagnosis: neutrophils less than 200 / microL at least three to five consecutive days per cycle for at least three regular periods
  • Test for ELANE gene mutation

Blood tests: Low neutrophil granulocytes

Medical Prognosis / Life expectancy

  • The disease can disappear at the age of 30

Incorrect diagnosis (similar conditions / differential diagnoses)

Treatment

  • Granulocyte colony stimulating factor (G-CSF)
  • infection Treatment

Literature

Auto-inflammatory diseases (BINDEVEVSSYKDOMMER.no)


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