The Prevalence of Fabry Disease in Patients with Chronic Kidney Disease in Turkey: The TURKFAB Study

Türkmen, Kültiğin; Güçlü, Aydın; Şahin, Garip; Koçyiğit, İsmail; Demirtaş, Levent; Erdur, Fatih Mehmet; Şengül, Erkan; Özkan, Oktay; Emre, Habib; Turgut, Faruk; Ünal, Hilmi Umut; Karaman, Murat; Açıkel, Cengiz Han; Esen, Hasan; Ballı, Ebru; Bitirgen, Gülfidan; Tonbul, Halil Zeki; Yılmaz, Mahmut İlker; Ortíz, Alberto

doi:10.1159/000452605

Cited by 37 publications

(39 citation statements)

References 19 publications

(21 reference statements)

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“…Alpha-Gal A testing using DBS was employed for both studies, with confirmation of diagnosis by genetic analysis. In both studies, FD was identified in male patients (prevalence of 1.8% [44] and 0.4% [45]) but in no female patients. Favalli et al [46] examined the prevalence of Fabry disease in patients selected from multiple settings and identified that 2/72 CKD patients (2.7% prevalence) harboured a disease-associated GLA mutation, neither of whom were female.…”

Section: Introductionmentioning

confidence: 83%

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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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Section: Introductionmentioning

confidence: 83%

“…Two Turkish studies have examined the prevalence of FD in pre-terminal CKD patients, i.e. CKD patients not on RRT, Stages 1 to 5 [44,45]. Alpha-Gal A testing using DBS was employed for both studies, with confirmation of diagnosis by genetic analysis.…”

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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“…Several studies were conducted to screen FD in CKD, dialysis and renal transplant patients. A study conducted in Turkey by Türkmen et al [9] investigated the prevalence of the FD in 313 eligible CKD patients not receiving renal replacement therapy, and the prevalence of FD in CKD patients was 0.95%. The first screening study in hemodialysis patients in Turkey was carried out by Kalkan et al [10] and they evaluated 808 male patients but not female patients.…”

Section: Discussionmentioning

confidence: 99%

“…The threshold for α-Gal A activity in our study for male patients was three micromol/L/h. We used this threshold because the lower threshold used in the study of Türkmen et al [9] missed some male patients despite FD symptoms and genetic and histological evidence of FD. It should also be noted that a significant number of affected FD heterozygotes may have α -GLA activities that fall within the normal range, rendering enzyme diagnosis unreliable.…”

Section: Discussionmentioning

confidence: 99%

The Fabry Family Determined as a Result of the Screening of the Transplanted Patients: A Single Center Screening

Can¹

2018

Haydarpasa Numune Med J

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Introduction: Fabry disease (FD) is an X-linked lysosomal storage disorder that arises from a decreased activity of α-galactosidase A. With this study, we evaluated an FD family, which was detected after the screen of transplanted patients. Methods: We were able to screen 200 transplanted patients at the University of Health Science, Haydarpasa Numune Training and Research Center. α-Gal A activity was used for screening of the male patients. Gene analysis was performed for all female transplanted patients. Results: Among 200 patients, one 35 years old female patient had a genetic mutation, which was c.376A>G (p=S126G) heterozygous. She received a renal kidney from her sister in 2015. Genetic analysis of this female donor also revealed the same genetic variation. Starting with this index patient, we communicate with available 38 family members. Among these family members, the genetic analysis was performed to 22 family members. Twelve and 10 family members had negative and positive results, respectively. We could not communicate with 12 family members. Only one male family member had positive result and was the nephew of the index case. Discussion and Conclusion: Eleven family members had positive results for genetic analysis. An 87 years old aunt showed the asymptomatic nature of the disease. Again, the family had only one male member with the mutation.

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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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The Prevalence of Fabry Disease in Patients with Chronic Kidney Disease in Turkey: The TURKFAB Study

Cited by 37 publications

References 19 publications

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

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

The Fabry Family Determined as a Result of the Screening of the Transplanted Patients: A Single Center Screening

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

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