Published in:
Open Access
01-10-2010 | Poster presentation
International registry: genetic and phenotypic characteristics of a heterogenous group of disorders
Authors:
Cornelia Zeidler, Gusal Pracht, Manuela Germeshausen, Karl Welte
Published in:
Orphanet Journal of Rare Diseases
|
Special Issue 1/2010
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Excerpt
Severe congenital neutropenia (CN) stands for a group of disorders characterised by extremely low neutrophil counts (ANC < 0.5x109), early stage maturation arrest of myelopoiesis and recurrent bacterial infections. In general more than 90% of CN patients respond to daily G-CSF treatment with a sustained neutrophil increase resulting in significantly reduced infections and an improved quality of life. Besides neutropaenia, the differences in treatment response and the presence of various concomitant clinical features in subpopulations of patients in conjunction with an increased risk of leukaemia transformation in about 10% of all CN patients strongly suggested to search for new sub diagnoses to identify patients at risk of leukaemia. …
