Bilateral femoral osteolytic lesions in a patient with type 3 Gaucher disease

被引:1
作者
Teefe, Enock [1 ]
Kim, Jenny [1 ]
Lopez, Grisel [1 ]
Sidransky, Ellen [1 ]
机构
[1] Natl Inst Hlth, Natl Human Genome Res Inst, Sect Mol Neurogenet, Med Genet Branch, Bethesda, MD 20892 USA
来源
MOLECULAR GENETICS AND METABOLISM REPORTS | 2015年 / 5卷
基金
美国国家卫生研究院;
关键词
Gaucher disease; Enzyme replacement therapy; Osteolytic lesions; Glucocerebrosidase;
D O I
10.1016/j.ymgmr.2015.10.008
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Type 3 Gaucher disease (GD) manifests with hematologic, neurological and skeletal involvement including Erlenmeyer flask bone deformities, osteopenia, painful bone crises and fractures. We describe bilateral symmetric osteolytic lesions in a 23 year old with type 3 GD, chronically treated with enzyme replacement therapy. These atypical bone findings, previously reported in two similar patients with type 3 GD, expand our understanding of the evolving natural history of GD in the post-treatment era. (C) 2015 Published by Elsevier Inc. This is an open access article under the CC BY-NC-ND license
引用
收藏
页码:107 / 109
页数:3
相关论文
共 11 条
[1]  
Allen MJ, 1997, QJM-MON J ASSOC PHYS, V90, P19
[2]   Bone complications in children with Gaucher disease [J].
Bembi, B ;
Ciana, G ;
Mengel, E ;
Terk, MR ;
Martini, C ;
Wenstrup, RJ .
BRITISH JOURNAL OF RADIOLOGY, 2002, 75 :A37-A43
[3]   Osseous Manifestations of Adult Gaucher Disease in the Era of Enzyme Replacement Therapy [J].
Deegan, Patrick B. ;
Pavlova, Elena ;
Tindall, Jane ;
Stein, Penelope E. ;
Bearcroft, Philip ;
Mehta, Atul ;
Hughes, Derralynn ;
Wraith, J. Edmund ;
Cox, Timothy M. .
MEDICINE, 2011, 90 (01) :52-60
[4]   Clinical consequences of interrupting enzyme replacement therapy in children with type 1 Gaucher disease [J].
Drelichman, Guillermo ;
Ponce, Elvira ;
Basack, Nora ;
Freigeiro, Daniel ;
Aversa, Luis ;
Graciela, Elena ;
Kohan, Regina .
JOURNAL OF PEDIATRICS, 2007, 151 (02) :197-201
[5]  
Knudson AG, 1962, S TAY SACHS DIS ALL
[6]   T cell numbers relate to bone involvement in Gaucher disease [J].
Lacerda, L ;
Arosa, FA ;
Lacerda, R ;
Cabeda, J ;
Porto, G ;
Amaral, O ;
Fortuna, A ;
Pinto, R ;
Oliveira, P ;
McLaren, CE ;
Miranda, CS ;
de Sousa, M .
BLOOD CELLS MOLECULES AND DISEASES, 1999, 25 (08) :130-138
[7]   Gaucher Disease and Bone Manifestations [J].
Marcucci, Gemma ;
Zimran, Ari ;
Bembi, Bruno ;
Kanis, John ;
Reginster, Jean-Yves ;
Rizzoli, Rene ;
Cooper, Cyrus ;
Brandi, Maria Luisa .
CALCIFIED TISSUE INTERNATIONAL, 2014, 95 (06) :477-494
[8]  
Mikosch P, 2010, WIEN MED WOCHENSCHR, V160, P609, DOI 10.1007/s10354-010-0841-y
[9]   Pathologic gene expression in Gaucher disease: up-regulation of cysteine proteinases including osteoclastic cathepsin K [J].
Moran, MT ;
Schofield, JP ;
Hayman, AR ;
Shi, GP ;
Young, E ;
Cox, TM .
BLOOD, 2000, 96 (05) :1969-1978
[10]   Use of plain radiography to optimize skeletal outcomes in children with type 1 Gaucher disease in Brazil [J].
Mota, Ronald M. V. ;
Mankin, Henry .
JOURNAL OF PEDIATRIC ORTHOPAEDICS, 2007, 27 (03) :347-350