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

被引：14

作者：

Balta, Gunay

Okur, Hamza

Unal, Sule

Yarali, Nese ^{[2
]}

Gunes, Adalet Meral ^{[3
]}

Unal, Selma ^{[4
]}

Turker, Meral ^{[5
]}

Gulerf, Elif ^{[6
]}

Ertem, Mehmet ^{[7
]}

Albayrak, Meryem ^{[8
]}

Patiroglu, Turkan ^{[9
]}

Gurgey, Aytemiz ^{[1
]}

机构：

[1] Hacettepe Univ, Fac Med, Dept Pediat, Sect Pediat Hematol, TR-06100 Ankara, Turkey

[2] Diskapi SSK Educ & Res Hosp, Sect Pediat Hematol, Ankara, Turkey

[3] Uludag Univ, Dept Pediat, Sect Pediat Hematol, Bursa, Turkey

[4] Mersin Univ, Dept Pediat, Sect Pediat Hematol, Mersin, Turkey

[5] Tepecik SSK Educ Hosp, Sect Pediat Hematol, Izmir, Turkey

[6] Gaziantep Univ, Sect Pediat Oncol, Oncol Hosp, Gaziantep, Turkey

[7] Ankara Univ, Sect Pediat Hematol, Dept Pediat, TR-06100 Ankara, Turkey

[8] Gazi Univ, Dept Pediat, Sect Pediat Hematol, Ankara, Turkey

[9] Erciyes Univ, Dept Pediat, Sect Pediat Hematol, Kayseri, Turkey

来源：

LEUKEMIA RESEARCH | 2010年 / 34卷 / 08期

关键词：

Familial hemophagocytic lymphohistiocytosis; FHL; Perforin gene; W374X mutation; Clinical implications; Genotype-phenotype; Founder effect; PERFORIN GENE; TURKISH CHILDREN;

D O I：

10.1016/j.leukres.2010.02.002

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

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.

引用

页码：1012 / 1017

页数：6

共 16 条

[1] Novel mutation of the perforin gene and maternal uniparental disomy 10 in a patient with familial hemophagocytic lymphohistiocytosis [J].