Patients with type 1 Gaucher disease in Spain: A cross-sectional evaluation of health status

详细信息    查看全文

• 作者：Pilar Giraldo^a ; ^b ; ^{giraldocastellano@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Jordi Pé ; rez-Ló ; pez^c ; ^{jordperez@vhebron.net" class="auth_mail" title="E-mail the corresponding author} ; Ramiro Nú ; ñ ; ez^d ; ^{ramirojosenv@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Rafael Ferná ; ndez de la Puebla^e ; ^{fdezpuebla@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Elisa Luñ ; o^f ; ^{eluno@uniovi.es" class="auth_mail" title="E-mail the corresponding author} ; Salvador Saura-Grau^g ; ^{ssauragrau@hotmail.com" class="auth_mail" title="E-mail the corresponding author} ; Juan Carlos Bureo^h ; Sylvia Plazaⁱ ; ^{splaza@shire.com" class="auth_mail" title="E-mail the corresponding author} ; Javier de la Serna^j ; ^{drjdelaserna@gmail.com" class="auth_mail" title="E-mail the corresponding author}
• 关键词：ANOVA ; one-way analysis of variance ; BMD ; bone mineral density ; BMI ; body mass index ; CCL18 ; chemokine (C-C motif) ligand 18 ; EC ; Enzyme commission number ; ERT ; enzyme replacement therapy ; GBA ; glucocerebrosidase ; GD ; Gaucher disease ; DXA ; dual energy X-ray absorptiometry ; IQR ; interquartile range ; MAP Tool® ; monitor ; action and progress tool ; MN ; multiples of normal ; MRI ; magnetic resonance imaging ; OMIM ; Online Mendelian Inheritance in Man ; QoL ; quality of life ; SD ; standard deviation ; SRT
• 刊名：Blood Cells, Molecules and Diseases
• 出版年：2016
• 出版时间：January 2016
• 年：2016
• 卷：56
• 期：1
• 页码：23-30
• 全文大小：607 K

文摘

A multicentre, cross-sectional epidemiological survey was conducted to describe the health status of patients with type 1 Gaucher disease (GD1) in Spain. Patient data were collected retrospectively from clinical records. Therapeutic goals for seven clinical parameters were chosen as primary outcome measures. 108 GD1 patients (mean age 44.8 years; 53% male) were recruited from 28 hospitals. Ninety-five patients (88%) were receiving treatment for GD1. Hemoglobin concentration was the therapeutic goal with the highest level of achievement, being met by 105 of 108 patients (97%), followed by the goals for liver volume (86/98 patients; 88%), spleen volume (67/77 patients; 87%) and platelet count (81/108 patients; 75%). The goal for bone mineral density (BMD) was met by 48 of 75 patients (64%), and the goal for quality of life was met by 65 of 103 patients (63%). Bone pain was the parameter with the lowest level of achievement (goal met by 50/94 patients; 53%). The clinical information most often missing from patient records was the BMD Z-score (missing for 31% of patients). These data suggest that most Spanish GD1 patients have good control over hematological and visceral parameters, but there is a need to improve monitoring and treatment of GD-related bone disease.