Incidence of severe congenital neutropenia in Sweden and risk of evolution to myelodysplastic syndrome/leukaemia.

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.

Fasth, Anders,1945Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Clinical Sciences, Department of Pediatrics(Swepub:gu)xfasan (författare)
Berglöf, ElisabetKarolinska Institutet (författare)
Lagerstedt-Robinson, KristinaKarolinska Institutet (författare)
Nordenskjöld, MagnusKarolinska Institutet (författare)
Palmblad, JanKarolinska Institutet (författare)
Henter, Jan-IngeKarolinska Institutet (författare)
Fadeel, BengtKarolinska Institutet (författare)
Karolinska InstitutetInstitutionen för kliniska vetenskaper, Avdelningen för pediatrik (creator_code:org_t)

Ingår i:British journal of haematology: Wiley158:3, s. 363-3691365-21410007-1048

Av författaren/redakt...: Carlsson, Göran, ...; Fasth, Anders, 1 ...; Berglöf, Elisabe ...; Lagerstedt-Robin ...; Nordenskjöld, Ma ...; Palmblad, Jan; visa fler...; Henter, Jan-Inge; Fadeel, Bengt; visa färre...

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MEDICIN OCH HÄLSOVETENSKAP: MEDICIN OCH HÄLS ...; och Klinisk medicin; och Pediatrik

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