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

Balta, Gunay; Okur, Hamza; Unal, Sule; Yarali, HÜSNİYE; Gunes, Adalet; Unal, Selma; Turker, Meral; Guler, Elif; Ertem, Mehmet; Albayrak, Meryem; Patiroglu, Turkan; Gurgey, Aytemiz

doi:10.1016/j.leukres.2010.02.002

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., Unal S., ...Daha Fazla

Leukemia Research, cilt.34, sa.8, ss.1012-1017, 2010 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 34 Sayı: 8
Basım Tarihi: 2010
Doi Numarası: 10.1016/j.leukres.2010.02.002
Dergi Adı: Leukemia Research
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.1012-1017
Anahtar Kelimeler: Clinical implications, Familial hemophagocytic lymphohistiocytosis, FHL, Founder effect, Genotype-phenotype, Perforin gene, W374X mutation
Ankara Yıldırım Beyazıt Üniversitesi Adresli: Hayır

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. © 2010 Elsevier Ltd.