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Incidence of severe...
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Carlsson, Göran,1951Karolinska Institutet
(författare)
Incidence of severe congenital neutropenia in Sweden and risk of evolution to myelodysplastic syndrome/leukaemia.
- Artikel/kapitelEngelska2012
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LIBRIS-ID:oai:gup.ub.gu.se/160394
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https://gup.ub.gu.se/publication/160394URI
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https://doi.org/10.1111/j.1365-2141.2012.09171.xDOI
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http://kipublications.ki.se/Default.aspx?queryparsed=id:124903712URI
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Severe congenital neutropenia (SCN) is characterized by low blood neutrophil counts, early bacterial infections, and risk of leukaemia development. As yet, no population-based incidence estimates of SCN have been reported. Children less than 16years of age with SCN were sought in Sweden during the 20-year period 1987-2006 by a questionnaire to all Swedish Departments of Paediatrics and by reviewing the Swedish Health and Welfare Statistical Databases. Thirty-two patients were diagnosed with congenital neutropenia during this period. All received treatment with recombinant granulocyte-colony stimulating factor (G-CSF). Twenty-one patients were diagnosed as SCN or probable SCN, corresponding to 1·0 per 100000 live births. Nine (43%) had ELANE mutations, four (19%) HAX1 mutations and eight (38%) were children with disease of unknown genetic aetiology. Four out of 21 patients (19%) developed myelodysplastic syndrome/leukaemia and three (14%) died, all with leukaemia. The cumulative incidence of myelodysplastic syndrome/leukaemia was 31%. The observed incidence of SCN in this population-based study was higher than previously estimated, possibly because genetic testing now can identify SCN cases previously thought to be idiopathic or benign neutropenia. The risk of developing myelodysplastic syndrome/leukaemia is considerable. ELANE mutations are the most commonly identified genetic defects.
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Fasth, Anders,1945Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Clinical Sciences, Department of Pediatrics(Swepub:gu)xfasan
(författare)
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Berglöf, ElisabetKarolinska Institutet
(författare)
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Lagerstedt-Robinson, KristinaKarolinska Institutet
(författare)
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Nordenskjöld, MagnusKarolinska Institutet
(författare)
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Palmblad, JanKarolinska Institutet
(författare)
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Henter, Jan-IngeKarolinska Institutet
(författare)
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Fadeel, BengtKarolinska Institutet
(författare)
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Karolinska InstitutetInstitutionen för kliniska vetenskaper, Avdelningen för pediatrik
(creator_code:org_t)
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Ingår i:British journal of haematology: Wiley158:3, s. 363-3691365-21410007-1048
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