Intermittent chronic neutropenia in a patient with familial mediterranean fever

被引：8
|
作者：
Tidjani, K. Ganiou [1 ]
Ailal, F. [1 ]
Najib, J. [1 ]
Bellanne-Chantelot, C. [2 ]
Donadieu, J. [3 ]
Bousfiha, A. A. [1 ]
机构：
[1] CHU Ibn Rochd, Unite Immunol Clin, Serv Pediat 1, Casablanca, Morocco
[2] Univ Paris 06, Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, Paris, France
[3] Univ Paris 06, Hop Trousseau, Serv Hemato Oncol Pediat, Registre Francais Neutropenies,AP HP, F-75012 Paris, France
来源：
PEDIATRIC BLOOD & CANCER | 2008年 / 51卷 / 05期
关键词：
amyloidosis; familial mediterranean fever; neutropenia;
D O I：
10.1002/pbc.21685
中图分类号：
R73 [肿瘤学];
学科分类号：
100214 ;
摘要：
A 12-year-old daughter of consanguineous Moroccan parents was diagnosed with cyclic neutropenia, based oil a combination of recurrent gingivostomatitis, a fluctuating neutrophil Count, and several episodes of severe neutropenia. No ELA2 gene Mutations were found. At age 19 years she presented with edema of the limbs, proteinuria and renal failure. Renal amyloidosis AA was diagnosed by biopsy. Gene Mutations associated with family Mediterranean ;fever (FMF) were Sought, and a homozygous mutation (M694V) was found in the MFEV gene. This is the novel finding of FMF that masqueraded as cyclic neutropenia.
引用
收藏
页码：701 / 703
页数：3
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