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 34 条

[31] A CLINICAL ASSESSMENT OF THE EFFECTS OF ORKAMBI® (LUMACAFTOR-IVACAFTOR) IN PATIENTS WITH MILD/MODERATE CYSTIC FIBROSIS LUNG DISEASE HOMOZYGOUS FOR THE Phe508del MUTATION.
Finnegan, A. M.
Carter, S. C.
McKone, E. F.
IRISH JOURNAL OF MEDICAL SCIENCE, 2017, 186 : S481 - S482
[32] Wide clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2 gene
Colomer, J.
Gooding, R.
Angelicheva, D.
King, R. H. M.
Parman, Y.
Nascimento, A.
Conill, J.
Kalaydjieva, L.
NEUROMUSCULAR DISORDERS, 2006, 16 (9-10) : 664 - 665
[33] Assessment of the diagnosis, treatment, and follow-up of a group of Turkish pediatric glycogen storage disease type 1b patients with varying clinical presentations and a novel mutation
Yavas, Aynur Kucukcongar
Engin Erdal, Aysenur
Bilginer Gurbuz, Berrak
Unlusoy Aksu, Aysel
Kasapkara, Cigdem Seher
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2023, 36 (11): : 1092 - 1099
[34] Utility of clinical, laboratory, and lymph node MYD88 L265P mutation in risk assessment of diffuse large B-cell lymphoma patients
Hanbal, Ahmed Talaat
El-Ashwah, Shaimaa
Eladl, Ahmed E.
Shamaa, Sameh
Saleh, Layla M.
JOURNAL OF THE EGYPTIAN NATIONAL CANCER INSTITUTE, 2024, 36 (01)

← 1 2 3 4 →