Assessment of clinical and laboratory presentations of familial hemophagocytic lymphohistiocytosis patients with homozygous W374X mutation


Balta G., Okur H., Unal S., Yarali N., Gunes A. M. , ÜNAL S., ...Daha Fazla

LEUKEMIA RESEARCH, cilt.34, ss.1012-1017, 2010 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 34 Konu: 8
  • Basım Tarihi: 2010
  • Doi Numarası: 10.1016/j.leukres.2010.02.002
  • Dergi Adı: LEUKEMIA RESEARCH
  • Sayfa Sayıları: ss.1012-1017

Özet

Homozygous W374X mutation was identified in unrelated 13 patients (6M/7F) from consanguineous families, 62% of which had history of deceased sibling. Haplotype analysis provided evidence for the probable existence of a founder effect. Age at disease onset ranged from 1 day to 5.5 months (median 2 months). Hepatic dysfunction was observed in 69%, ascite 62%, hypertriglyceridemia 77%, each hyperferritinemia and hypofibrinogenemia 85%, CNS involvement 46% of patients while birth weights were in normal range. Those with very high ferritin (>20,000 ng/ml) had extremely low fibrinogen levels. Two-thirds of patients receiving HLH protocol died within 20 days of therapy. (C) 2010 Elsevier Ltd. All rights reserved.