The Prevalence and Clinical Features of Fabry Disease in Hemodialysis Patients: Russian Nationwide Fabry Dialysis Screening Program

Moiseev, Sergey; Fоmin, Victоr; Savostyanov, Kirill; Pushkov, Alexander; Moiseev, Alexey; Svistunov, Andrey; Namazova-Baranova, Leyla

doi:10.1159/000495886

Cited by 28 publications

(27 citation statements)

References 15 publications

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“…Early symptoms of FD, that is, neuropathic pain (pain in hands and/or feet characterised by exacerbations that are provoked by fever, exercise or heat), angiokeratoma (clustered angiomas in characteristic areas including bathing trunk area, lips and umbilicus) (figure 1), hypohidrosis/anhidrosis and gastrointestinal disorders, are usually present from childhood or adolescence, while progressive nephropathy, left ventricular hypertrophy (figure 2) and stroke/transient ischaemic attacks develop by the second to fourth decades of life (earlier in males than in females) 1. Undiagnosed patients with FD can be detected by screening in at-risk populations, such as patients with end-stage renal disease, unexplained myocardial hypertrophy or early stroke (at the age of 18 to 55 years) 2…”

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What rheumatologist should know about Fabry disease

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What rheumatologist should know about Fabry disease

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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].…”

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confidence: 99%

“…Fabry screening studies of Japanese HD populations [17,[31][32][33][34][35] estimate prevalence at 0.3 to 0.7% [32,34,35]. Prevalence studies of European HD populations estimate Fabry prevalence at between 0.15 and 0.36% [30,[36][37][38]. A Brazilian study estimated the prevalence of Fabry disease in haemodialysis patients to be 0.12% [28].…”

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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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“…As the clinical diagnosis of FD is challenging; therefore, screening of subjects with clinical suspicion of the disease is important. [13][14][15][16][17][18] Early detection and initiation of enzyme replacement therapy (ERT) may slow the progression of the disease. [19][20][21][22] Wide-scale newborn screening has been implemented for FD in many countries.…”

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“…A similar approach was adopted in previous studies, which reported a prevalence of 0.2-1.7% of FD in patients with chronic kidney disease depending on the population screened and the method of screening. 1,[10][11][12][13][14][15][16][17][18] Linthorst et al, 13 conducted a systematic review of FD screening of high-risk populations. The authors showed that the average prevalence of FD among hemodialysis patients was 0.33% in males and 0.10% in females.…”

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Screening for Fabry disease among 619 hemodialysis patients in Saudi Arabia

Alhemyadi

Elawad²,

Fourtounas³

et al. 2020

SMJ

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Objectives: To determine the prevalence of Fabry disease (FD) among Saudi patients on hemodialysis. Methods: This prospective study was conducted in 3 major hospitals in the. All adult patients (>18 years old) attending the dialysis unit who have endstage renal disease (ESRD) and on hemodialysis were included. Known patients with FD and those who refused to participate in the study were excluded. All eligible patients were screened for FD using dry blood spot (DBS) for alpha-galactosidase A (α-Gal A). A positive DBS (enzyme activity <40%) was followed by another confirmatory enzyme assay. When the second DBS sample was also positive (enzyme Original Article activity <40%), a Sanger sequencing of the GLA gene was performed. Results: A total of 619 patients with ESRD and on hemodialysis were screened for FD using DBS for α-Gal A enzyme level. Enzymatic activity was below 40% in 11 samples. On retesting, 3 females had <20% enzymatic activity suggesting FD. Sanger sequencing of these 3 females showed the variant c.1055C>G (p.Ala352Gly) confirming the diagnosis of FD. Family screening of one of these 3 patients revealed one asymptomatic female carrying the same variant. Conclusion: The prevalence of FD in this cohort was 4.8 per 1000 patients. Screening of Fabry patients with ESRD seems to be a cost-effective strategy. Furthermore, relatives of the patients identified by screening enhances this screening strategy.

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The Prevalence and Clinical Features of Fabry Disease in Hemodialysis Patients: Russian Nationwide Fabry Dialysis Screening Program

Cited by 28 publications

References 15 publications

What rheumatologist should know about Fabry disease

What rheumatologist should know about Fabry disease

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

Screening for Fabry disease among 619 hemodialysis patients in Saudi Arabia

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