Fabry Disease Prevalence in Renal Replacement Therapy in Turkey

Yalın, Serkan Feyyaz; Eren, Necmi; Sinangil, Ayşe; Yılmaz, Vural Taner; Tatar, Erhan; Uçar, Ali Rıza; Sevinc, Mustafa; Can, Özgür; Gürkan, Alp; Arık, Nurol; Ecder, Sabahat Alışır; Uyar, Murathan; Yasar, Murat; Gulcicek, Sibel; Meşe, Meral; Dheir, Hamad; Çakır, Ülkem; Cevher, Şimal Köksal; Türkmen, Kültiğin; Guven, Bahtisen; Taymez, Dilek Güven; Şenateş, Banu Erkalma; Ecder, Tevfik; Koçak, Hüseyin; Uslu, Adam; Demir, Erol; Baştürk, Taner; Öğütmen, Melike Betül; Kinalp, Can; Dursun, Belda; Bahçebaşı, Zerrin Bicik; Sipahi, Savaş; Dede, Fatih; Oruç, Meriç; Çalışkan, Yaşar; Genç, Ahmed Bilal; Yelken, Berna; Altiparmak, Mehmet Rıza; Türkmen, Aydın; Seyahi, Nurhan

doi:10.1159/000496620

Cited by 21 publications

(18 citation statements)

References 31 publications

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“…Each large-scale screening study with >5000 subjects [51][52][53] found >10 GLA variants. In these studies, the most common variants were p.L415P (classical), p.R363H (late-onset), p.M296I, and p.R112H and found in Argentina [51,68].…”

Section: High-risk Screening For Fd In Individuals With Renal Manifestationsmentioning

confidence: 99%

High-Risk Screening for Fabry Disease: A Nationwide Study in Japan and Literature Review

et al. 2021

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Fabry disease (FD) is an X-linked inherited disorder caused by mutations in the GLA gene, which encodes the lysosomal enzyme α-galactosidase A (α-Gal A). FD detection in patients at an early stage is essential to achieve sufficient treatment effects, and high-risk screening may be effective. Here, we performed high-risk screening for FD in Japan and showed that peripheral neurological manifestations are important in young patients with FD. Moreover, we reviewed the literature on high-risk screening in patients with renal, cardiac, and central neurological manifestations. Based on the results of this study and review of research abroad, we believe that FD can be detected more effectively by targeting individuals based on age. In recent years, the methods for high-risk screening have been ameliorated, and high-risk screening studies using GLA next-generation sequencing have been conducted. Considering the cost-effectiveness of screening, GLA sequencing should be performed in individuals with reduced α-Gal A activity and females with certain FD manifestations and/or a family history of FD. The findings suggest that family analysis would likely detect FD patients, although GLA sequencing of asymptomatic family members requires adequate genetic counseling.

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Section: High-risk Screening For Fd In Individuals With Renal Manifestationsmentioning

confidence: 99%

High-Risk Screening for Fabry Disease: A Nationwide Study in Japan and Literature Review

et al. 2021

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“…The mean endogamy ratio in Turkey is 23.2% regarding the data published in 2017 by the Turkish Statistical Institute [14]. 43 from 71 family members were affected in the study of Yalin et al [15]. Therefore, we tried to screen family members of index cases as much as we can.…”

Section: сLinical Case Reportsmentioning

confidence: 99%

Fabry disease: A single-center experience

Parmaksız

Meşe

2021

Ukr. J. Nephrol. and Dial.

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Fabry disease (FD) is an inborn X-linked lysosomal storage disorder resulting from α–galactosidase A (α-Gal) activity deficiency in lysosomes. This results in the accumulation of particularly globotriaosylceramide (Gb3) within lysosomes in a wide variety of cells. This study aimed to analyze the clinical presentation, findings and family screenings of index cases, management and outcomes of FD patients in our center. Methods. Data including demographic characteristics, personal history of comorbidities, laboratory findings at the time of diagnosis were recorded. α – Gal activity was measured in all males and females as initial analysis. The cut-off trigger was determined as 1.2 mmol/L per hour. Mutation analysis was performed in males and females with decreased α – Gal activity as a diagnostic assay. In addition, mutation analysis was performed change in females with normal α – Gal providing they have clinical signs or family history for FD. Results. The individuals from nine FD families were presented. Conclusion. Screening for genetic diseases such as FD has crucial conclusions. The detection of FD in an index case leads to appropriate therapy for that patient. Family screening can be started and additional undiagnosed individuals can be detected.

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“…Numerous studies have examined the prevalence of Fabry disease in haemodialysis (HD) populations worldwide, with estimated prevalence ranging from 0.12% [28,29] to 0.36% [30]. Fabry screening studies of Japanese HD populations [17,[31][32][33][34][35] estimate prevalence at 0.3 to 0.7% [32,34,35].…”

Section: Introductionmentioning

confidence: 99%

“…A Brazilian study estimated the prevalence of Fabry disease in haemodialysis patients to be 0.12% [28]. A recent Turkish study identified 17 cases of FD in male patients on renal replacement therapy (RRT), with 15 of those cases in patients who have had renal transplants (0.39%, n = 3882), two cases identified in patients on dialysis (0.12%, n = 1655), and an overall prevalence rate of 0.31% [29]. A systematic review of Fabry screening studies in high-risk populations revealed 12 studies of dialysis populations [39].…”

Section: Introductionmentioning

confidence: 99%

The Ckd. Qld fabRy Epidemiology (aCQuiRE) study protocol: identifying the prevalence of Fabry disease amongst patients with kidney disease in Queensland, Australia

et al. 2020

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Background: Fabry disease (FD) is a rare, lysosomal storage disorder caused by the absence or deficiency of the enzyme alpha-galactosidase A (α-Gal A) that leads to the abnormal accumulation of the lipid globotriaosylceramide (GB3) in a variety of cell types and tissues throughout the body. FD has an x-linked inheritance pattern. Previously thought to be only carriers, females can also experience FD symptomatology. Symptoms vary in type and severity from patient to patient and tend to increase in severity with age. FD symptoms are non-specific and may be shared with those of other diseases. Misdiagnoses and diagnostic delays are common, often resulting in progressive, irreversible tissue damage. The estimated prevalence of FD in the general population is 1:40,000 to 1:117,000 individuals. However, it is estimated that the prevalence of FD in the dialysis population is 0.12 to 0.7%. Little is known about the prevalence of FD in the broader Chronic Kidney Disease (CKD) population. Methods: This is an epidemiological study of the prevalence of FD in CKD patents identified from the public renal speciality practices in Queensland, Australia. A cascade approach to screening is being employed with dried blood spot testing for blood levels of alpha-galactosidase A (Alpha-Gal), with follow-up testing for patients with abnormal results by plasma levels of globotriaosylsphingosine (Lyso-GB3) for females and non-definitive cases in males. A diagnosis of FD is confirmed through genetic testing of the GLA gene in cases suspected of having FD based upon Alpha-Gal and Lyso-GB3 testing. Discussion: Expected outcomes of this study include more information about the prevalence of FD at all stages of CKD, including for both males and females. The study may also provide information about common characteristics of FD to assist with diagnosis and optimal management/treatment. Screening is also available for family members of diagnosed patients, with potential for early diagnosis of FD and intervention for those individuals. Trial registration: Queensland Health Database of Research Activity (DORA, https://dora.health.qld.gov.au) pj09946 (Registered 3rd July 2017).

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Fabry Disease Prevalence in Renal Replacement Therapy in Turkey

Cited by 21 publications

References 31 publications

High-Risk Screening for Fabry Disease: A Nationwide Study in Japan and Literature Review

High-Risk Screening for Fabry Disease: A Nationwide Study in Japan and Literature Review

Fabry disease: A single-center experience

The Ckd. Qld fabRy Epidemiology (aCQuiRE) study protocol: identifying the prevalence of Fabry disease amongst patients with kidney disease in Queensland, Australia

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