Prevalence of Fabryâs disease within hemodialysis patients in Spain

Herrera, Julio; Miranda, Clara Sá

doi:10.5414/cn108053

Cited by 26 publications

(31 citation statements)

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“…Since they are already in dialysis, histological confirmation of Fabry nephropathy is not an option, and ESRD itself may explain most coexistent cardiac or central nervous system involvements. In this regard, the prevalence of the R118C GLA variant (5 of 3,650, 0.14%) in Spanish hemodialysis patients was reported to be similar to the prevalence found in Portuguese healthy subjects (1 of 696; 0.14%), and most patients with the R118C variant do not have features of FD [10,11]. Thus, it is unlikely that Fabry nephropathy explains the ESRD of R118C patients identified in the Spanish hemodialysis screening [10,12].…”

Section: Introductionmentioning

confidence: 83%

“…In this regard, the prevalence of the R118C GLA variant (5 of 3,650, 0.14%) in Spanish hemodialysis patients was reported to be similar to the prevalence found in Portuguese healthy subjects (1 of 696; 0.14%), and most patients with the R118C variant do not have features of FD [10,11]. Thus, it is unlikely that Fabry nephropathy explains the ESRD of R118C patients identified in the Spanish hemodialysis screening [10,12]. It is thus critical to assess the pathogenicity of any novel mutation found in hemodialysis screening, given the impact of prescribing high-cost ERT on patients and society.…”

Section: Introductionmentioning

confidence: 89%

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A Novel Missense GLA Mutation (p.G35V) Detected in Hemodialysis Screening Leads to Severe Systemic Manifestations of Fabry Disease in Men and Women

Veloso¹,

Ataides²,

Canziani³

et al. 2017

Nephron

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Background/Aims: Fabry disease (FD), an X-linked lysosomal storage disorder, leads to accumulation of globotriaosylceramide. Screening in dialysis patients may identify genetic variants of unknown clinical significance. We aimed to characterize the pathogenicity of a novel GLA gene mutation identified during hemodialysis screening and the histologic findings of early Fabry nephropathy. Methods: One out of 108 male hemodialysis patients screened for FD presented low α-galactosidase A activity. A novel missense mutation (p.G35V) in the GLA gene was detected. Family screening identified 11 additional cases (8 women). Clinical investigation was conducted in 10 patients (index case and 9 relatives). Pathogenicity of the new mutation was investigated by clinical and laboratory tests, cardiac and cranial magnetic resonance imaging, and kidney biopsy. Results: Cardiac manifestations were detected in most patient from both genders, such as left ventricular hypertrophy and short PR interval. White matter lesion was present in 3 women. Pulvinar lesion of the thalamus and ischemic stroke were detected in male patients. Abnormal glomerular filtration rate (GFR) and/or albuminuria were present in 5 patients (3 women). Renal biopsies (n = 7) revealed globotriaosylceramide deposits in different cell types and foot processes effacement in all patients, including women with normal albuminuria. Despite a normal GFR, tubulointerstitial fibrosis ranging from 5 to 20% was present in young women and men with normal or high albuminuria, respectively. Conclusion: The novel missense mutation p.G35V leads to severe systemic manifestations of FD in men and women. Kidney histological changes, including tubulointerstitial fibrosis, may predate albuminuria and GFR changes in adult women. Novel non-invasive markers are required for early detection of Fabry nephropathy.

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Section: Introductionmentioning

confidence: 83%

Section: Introductionmentioning

confidence: 89%

A Novel Missense GLA Mutation (p.G35V) Detected in Hemodialysis Screening Leads to Severe Systemic Manifestations of Fabry Disease in Men and Women

Veloso¹,

Ataides²,

Canziani³

et al. 2017

Nephron

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“…Detection of those index cases led us to locate additional undiagnosed patients. The prevalence of FD in hemodialysis patients has been studied extensively [24,[25][26][27][28]. However, there are few studies conducted on patients who had undergone kidney Tx [29][30][31].…”

Section: Discussionmentioning

confidence: 99%

Fabry Disease Prevalence in Renal Replacement Therapy in Turkey

Yalın

Eren

Sinangil

et al. 2019

Nephron

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Background: Fabry disease (FD) is an X-linked lysosomal storage disorder resulting from lack of alpha-galactosidase A (AGALA) activity in lysosomes. Objective: In this multicenter study, we aimed to evaluate the prevalence of FD in renal transplant (Tx) recipients in Turkey. We also screened dialysis patients as a control group. Methods: All Tx and dialysis patients were screened regardless of the presence of a primary disease. We measured the AGALA activity in all male patients as initial analysis. Mutation analysis was performed in male patients with decreased AGALA activity and in female patients as the initial diagnostic assay. Results: We screened 5,657 patients. A total of 17 mutations were identified. No significant difference was observed between the groups regarding the prevalence of patients with mutation. We found FD even in patients with presumed primary kidney diseases. Seventy-one relatives were analyzed and mutation was detected in 43 of them. We detected a patient with a new, unknown mutation (p.Cys223) in the GLA gene. Conclusions: There are important implications of the screening. First, detection of the undiagnosed patients leads to starting appropriate therapies for these patients. Second, the transmission of the disease to future generations may be prevented by prenatal screening after appropriate genetic counseling. In conclusion, we suggest screening of kidney Tx candidates for FD, regardless of etiologies of chronic kidney disease.

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“…The importance of early diagnosis to begin treatment as early as possible has been reported [17, 25-28]. Zarate and Hopkin (2008) reported that there is no known ethnic predisposition for FD but that there are some regional pockets with higher FD incidence, including Nova Scotia in Canada and Virginia in the USA [4].…”

Section: Discussionmentioning

confidence: 99%

Screening for Fabry Disease in Kidney Disease: a Cross-Sectional Study in Males and Females

Sodré

Huaira

Bastos

et al. 2017

Kidney Blood Press Res

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Background/Aims: Evaluate the prevalence of Fabry disease in men and women with kidney disease; and observe the presence and importance of the main signs and symptoms in patients with kidney disease. Methods: A cross-sectional analysis of secondary data from a multicenter project of Clinical and Epidemiological Analysis of Fabry Disease in 854 Dialysis Centers. A total of 36,442 patients underwent the questionnaire and algorithm; of them, 28,284 were discarded for not presenting signs and symptoms of Fabry disease, while the other 8,087 submitted to blood collection and analysis. All participants signed a Free and Informed Consent Form and a questionnaire was applied. The questionnaire data were analyzed using a computerized algorithm. This program/algorithm analyzes and separates patients into: discarded, patients unlikely to have Fabry disease; suspect, patients who submitted to blood collection. The blood of suspect patients was collected on filter paper for enzyme measurement and genetic testing. A descriptive data analysis was performed and the likelihood ratio was determined. Results: The general prevalence was 0.19% and after use of algorithm was 0.87%. Although more men were screened (59.3%), the prevalence was higher in women (65.1%). The most prevalent signs and symptoms were: heart disease (60.6%), decreased or lack of sweating (42.3%), heat and cold intolerance (28.2%), and pain crises spreading throughout the body (26.8%). Conclusion: The prevalence was higher in women, and the most prevalent symptom was heart diseases.

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Prevalence of Fabryâs disease within hemodialysis patients in Spain

Abstract: This study reveals the need for screening for FD in all patients under hemodialysis for unknown causes and indicates that the incidence and prevalence of FD are underestimated so far.

Cited by 26 publications

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A Novel Missense GLA Mutation (p.G35V) Detected in Hemodialysis Screening Leads to Severe Systemic Manifestations of Fabry Disease in Men and Women

A Novel Missense GLA Mutation (p.G35V) Detected in Hemodialysis Screening Leads to Severe Systemic Manifestations of Fabry Disease in Men and Women

Fabry Disease Prevalence in Renal Replacement Therapy in Turkey

Screening for Fabry Disease in Kidney Disease: a Cross-Sectional Study in Males and Females

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Prevalence of Fabryâs disease within hemodialysis patients in Spain

Abstract: This study reveals the need for screening for FD in all patients under hemodialysis for unknown causes and indicates that the incidence and prevalence of FD are underestimated so far.

Cited by 26 publications

References 0 publications

A Novel Missense GLA Mutation (p.G35V) Detected in Hemodialysis Screening Leads to Severe Systemic Manifestations of Fabry Disease in Men and Women

A Novel Missense GLA Mutation (p.G35V) Detected in Hemodialysis Screening Leads to Severe Systemic Manifestations of Fabry Disease in Men and Women

Fabry Disease Prevalence in Renal Replacement Therapy in Turkey

Screening for Fabry Disease in Kidney Disease: a Cross-Sectional Study in Males and Females

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Prevalence of Fabryâs disease within hemodialysis patients in Spain