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Miners, A; Holmes, Anna; Sherr, Lorraine; Jenkinson, Crispin; MacDermot, KD

doi:10.1023/a:1015009210639

Cited by 59 publications

(24 citation statements)

References 9 publications

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“…Most studies constrain to comparisons with healthy controls which indicate major impairments in affected patients [ 8 , 9 , 16 , 17 ] and the effects of enzyme replacement therapy on HRQoL. If SF-36 questionnaires were used, the main affected parameter was ‘general health’ [ 9 ]. Moreover, psychiatric diseases and related affections of HRQoL are frequently evident in Fabry patients [ 18 ].…”

Section: Discussionmentioning

confidence: 99%

“…It has been suggested by various studies [ 8 , 9 ] that a history of cardiovascular disease impacts on HRQoL in Fabry patients. We categorized cardiovascular events into minor and major events and found that neither was significantly associated with HRQoL in univariate or multivariate analyses, respectively.…”

Section: Discussionmentioning

confidence: 99%

“…HRQoL questions about perceived physical and mental health and function have become an important component of health surveillance and are generally considered valid indicators of service needs and intervention outcomes. In Fabry disease, patients suffer not only from the debilitating physical symptoms, but also from a compromised HRQoL, which is reported for both, males and females [ 8 , 9 ] Possible underlying reasons are numerous, ranging from disease related pain to vital organ dysfunction.…”

Section: Introductionmentioning

confidence: 99%

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Kidney function as an underestimated factor for reduced health related quality of life in patients with Fabry disease

et al. 2014

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BackgroundImpairments of health related quality of life (HRQoL) are frequently observed in Fabry disease (FD) and are known to be related to neuropathic pain and cardiovascular events. This study aimed to explore the role of chronic kidney disease (CKD) in a large cohort of patients with FD.MethodsIn 96 patients (53% female; age 40 ± 12 yrs) with genetically proven FD, HRQoL was assessed by the Medical Outcomes Study (SF-36) questionnaire. All patients were naïve to enzyme replacement therapy. Three categories for kidney dysfunction were chosen, eGFR ≥/<60 ml/min/1.73 m2 or need of renal replacement therapy (RRT). Minor (e.g. arrhythmia, angina pectoris, etc.) and major (e.g. myocardial infarction, coronary artery bypass, stroke or implantable cardioverter-defibrillator) vascular events as well as pain and pain therapy were considered in linear regression analyses with the dimensions of HRQoL.ResultsTen patients (10%) had impaired kidney function and a further nine were on RRT (9.4%). Kidney function and pain emerged as the main factors associated with lower scores on the SF 36, in particular on physical components (PCS beta-coefficients for CKD −6.2, for RRT −11.8, for pain −9.1, p < 0.05, respectively), while controlling for gender, vascular event and pain-therapy. Relationships were found for mental aspects of HRQoL. Age and history of vascular events were not related to HRQoL.ConclusionCardiovascular events and pain are important factors related to HRQoL, social functioning and depression. Our study highlights impaired chronic kidney disease, in particular after initiation of RRT, as a strong determinant of reduced HRQoL in FD.Electronic supplementary materialThe online version of this article (doi:10.1186/1471-2369-15-188) contains supplementary material, which is available to authorized users.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Kidney function as an underestimated factor for reduced health related quality of life in patients with Fabry disease

et al. 2014

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“…The small number of studies published before the widespread use of enzyme replacement therapy reported reduced QOL among FD patients, and the authors of those reports suggested that effective treatment with an appropriate agent would have great potential for improving QOL in patients with FD. 18 , 19 Our data on the activities of FD beneficiaries appear to show improvement in the clinical course of FD patients after the start of therapy.…”

Section: Discussionmentioning

confidence: 65%

Descriptive Epidemiology of Fabry Disease Among Beneficiaries of the Specified Disease Treatment Research Program in Japan

Tsuboi

Suzuki

Nagai

2012

Journal of Epidemiology

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BackgroundFabry disease (FD) is a rare X-linked lysosomal storage disorder and is included in the Specified Disease Treatment Research Program in Japan, which subsidizes medical care for beneficiaries with rare and other, designated diseases. However, no report on the epidemiologic features of Fabry disease has been published in Japan.MethodsWe used clinical research data reports submitted to the program between 2003 and 2008 to assess the epidemiologic features of 315 beneficiaries with FD.ResultsOf the 315 program beneficiaries, 198 were men (mean age, 37.4 years) and 117 were women (mean age, 51.2 years). The overall incidence in Japan was 0.25 cases per 100 000 individuals, and prevalence among men was 1.78 times that among women. More than 80% of beneficiaries were capable of working, going to school, or doing housework; however, 46 beneficiaries (14.6%) required home care, and 9 (2.9%) were living in hospitals or other medical facilities. As compared with the previous year, the clinical course of FD at beneficiary registration was unchanged for 178 of 290 beneficiaries (61.4%), worse for 81 (27.9%), and improved or cured for 31 (10.7%). The distribution of beneficiary-related characteristics was similar between men and women, and no significant difference was observed.ConclusionsThe high percentage (>80%) of individuals with FD who were able to work, attend school, and perform tasks such as housework could reflect an improvement in the clinical course of FD after enzyme replacement therapy. We must continue data collection and conduct further studies to improve our understanding of the descriptive epidemiology of FD.

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“…Anxiety is a frequent psychological symptom reported by FD patients [7, 9, 30, 31]. Prevalence estimates in current literature range between 20 and 37% [31, 32].…”

Section: Discussionmentioning

confidence: 99%

Affective and cognitive behavior in the alpha-galactosidase A deficient mouse model of Fabry disease

et al. 2017

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Fabry disease is an X-linked inherited lysosomal storage disorder with intracellular accumulation of globotriaosylceramide (Gb3) due to α-galactosidase A (α-Gal A) deficiency. Fabry patients frequently report of anxiety, depression, and impaired cognitive function. We characterized affective and cognitive phenotype of male mice with α-Gal A deficiency (Fabry KO) and compared results with those of age-matched male wildtype (WT) littermates. Young (3 months) and old (≥ 18 months) mice were tested in the naïve state and after i.pl. injection of complete Freund`s adjuvant (CFA) as an inflammatory pain model. We used the elevated plus maze (EPM), the light-dark box (LDB) and the open field test (OF) to investigate anxiety-like behavior. The forced swim test (FST) and Morris water maze (MWM) were applied to assess depressive-like and learning behavior. The EPM test revealed no intergroup difference for anxiety-like behavior in naïve young and old Fabry KO mice compared to WT littermates, except for longer time spent in open arms of the EPM for young WT mice compared to young Fabry KO mice (p<0.05). After CFA injection, young Fabry KO mice showed increased anxiety-like behavior compared to young WT littermates (p<0.05) and naïve young Fabry KO mice (p<0.05) in the EPM as reflected by shorter time spent in EPM open arms. There were no relevant differences in the LDB and the OF test, except for longer time spent in the center zone of the OF by young WT mice compared to young Fabry KO mice (p<0.05). Complementary to this, depression-like and learning behavior were not different between genotypes and age-groups, except for the expectedly lower memory performance in older age-groups compared to young mice. Our results indicate that genetic influences on affective and cognitive symptoms in FD may be of subordinate relevance, drawing attention to potential influences of environmental and epigenetic factors.

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Untitled

Cited by 59 publications

References 9 publications

Kidney function as an underestimated factor for reduced health related quality of life in patients with Fabry disease

Kidney function as an underestimated factor for reduced health related quality of life in patients with Fabry disease

Descriptive Epidemiology of Fabry Disease Among Beneficiaries of the Specified Disease Treatment Research Program in Japan

Affective and cognitive behavior in the alpha-galactosidase A deficient mouse model of Fabry disease

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