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Screening Fabry's disease in chronic kidney disease patients not on dialysis: a multicenter study.

ABSTRACT: Fabry's disease is an X-linked inherited, rare, progressive, lysosomal storage disorder, affecting multiple organs due to the deficient activity of ?-galactosidase A (?-Gal A) enzyme. The prevalence has been reported to be 0.15-1% in hemodialysis patients; however, the information on the prevalence in chronic kidney disease not on dialysis is lacking. This study aimed to determine the prevalence of Fabry's disease in chronic kidney disease.The patients older than 18 years, enclosing KDIGO 2012 chronic kidney disease definitions, not on dialysis, were enrolled. Dried blood spots on Guthrie papers were used to analyze ?-Gal A enzyme and genetic analysis was performed in individuals with enzyme activity ?1.2??mol/L/h.A total of 1453 chronic kidney disease patients not on dialysis from seven clinics in Turkey were screened. The mean age of the study population was 59.3?±?15.9 years. 45.6% of patients were female. The creatinine clearance of 77.3% of patients was below 60?mL/min/1.73 m2, 8.4% had proteinuria, and 2.5% had isolated microscopic hematuria. The mean value of patients' ?-Gal A enzyme was detected as 2.93?±?1.92??mol/L/h. 152 patients had low levels of ?-Gal A enzyme activity (?1.2??mol/L/h). In mutation analysis, A143T and D313Y variants were disclosed in three male patients. The prevalence of Fabry's disease in chronic kidney disease not on dialysis was found to be 0.2% (0.4% in male, 0.0% in female).Fabry's disease should be considered in the differential diagnosis of chronic kidney disease with unknown etiology even in the absence of symptoms and signs suggestive of Fabry's disease.

SUBMITTER: Yenicerioglu Y

PROVIDER: S-EPMC6014365 | biostudies-literature | 2017 Nov

REPOSITORIES: biostudies-literature

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Screening Fabry's disease in chronic kidney disease patients not on dialysis: a multicenter study.

Yeniçerioğlu Yavuz Y Akdam Hakan H Dursun Belda B Alp Alper A Sağlam Eyiler Funda F Akın Davut D Gün Yelda Y Hüddam Bülent B Batmazoğlu Mehmet M Gibyeli Genek Dilek D Pirinççi Serhat S Ersoy İsmail Rıfkı İR Üzüm Atilla A Soypaçacı Zeki Z Tanrısev Mehmet M Çolak Hülya H Demiral Sezer Sibel S Bozkurt Gökay G Akyıldız Utku Oğan UO Akyüz Ünsal Ayşe İpek Aİ Ünübol Mustafa M Uslu Meltem M Eryılmaz Ufuk U Günel Ceren C Meteoğlu İbrahim İ Yavaşoğlu İrfan İ Ünsal Alparslan A Akar Harun H Okyay Pınar P

Renal failure 20161110 1

<h4>Objectives</h4>Fabry's disease is an X-linked inherited, rare, progressive, lysosomal storage disorder, affecting multiple organs due to the deficient activity of α-galactosidase A (α-Gal A) enzyme. The prevalence has been reported to be 0.15-1% in hemodialysis patients; however, the information on the prevalence in chronic kidney disease not on dialysis is lacking. This study aimed to determine the prevalence of Fabry's disease in chronic kidney disease.<h4>Methods</h4>The patients older th ...[more]

PMID: 27832731

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Project description:Background In participants with concomitant chronic coronary disease and advanced chronic kidney disease (CKD), the effect of treatment strategies on the timing of dialysis initiation is not well characterized. Methods and Results In ISCHEMIA-CKD (International Study of Comparative Health Effectiveness With Medical and Invasive Approaches-Chronic Kidney Disease), 777 participants with advanced CKD and moderate or severe ischemia were randomized to either an initial invasive or conservative management strategy. Herein, we compare the proportion of randomized participants with non-dialysis-requiring CKD at baseline (n=362) who initiated dialysis and compare the time to dialysis initiation between invasive versus conservative management arms. Using multivariable Cox regression analysis, we also sought to identify the effect of invasive versus conservative chronic coronary disease management strategies on dialysis initiation. At a median follow-up of 23 months (25th-75th interquartile range, 14-32 months), dialysis was initiated in 18.9% of participants (36/190) in the invasive strategy and 16.9% of participants (29/172) in the conservative strategy (P=0.22). The median time to dialysis initiation was 6.0 months (interquartile range, 3.0-16.0 months) in the invasive group and 18.2 months (interquartile range, 12.2-25.0 months) in the conservative group (P=0.004), with no difference in procedural acute kidney injury rates between the groups (7.8% versus 5.4%; P=0.26). Baseline clinical factors associated with earlier dialysis initiation were lower baseline estimated glomerular filtration rate (hazard ratio [HR] associated with 5-unit decrease, 2.08 [95% CI, 1.72-2.56]; P<0.001), diabetes (HR, 2.30 [95% CI, 1.28-4.13]; P=0.005), hypertension (HR, 7.97 [95% CI, 1.09-58.21]; P=0.041), and Hispanic ethnicity (HR, 2.34 [95% CI, 1.22-4.47]; P=0.010). Conclusions In participants with non-dialysis-requiring CKD in ISCHEMIA-CKD, randomization to an invasive chronic coronary disease management strategy (relative to a conservative chronic coronary disease management strategy) is associated with an accelerated time to initiation of maintenance dialysis for kidney failure. Registration URL: https://www.clinicaltrials.gov; Unique identifier: NCT01985360.

Project description:ObjectivesLower health literacy (HL) is associated with poor outcomes in patients with kidney disease. Since HL matches the patient's competencies with the complexities of the care package, the level of HL sufficient in earlier stages of chronic kidney disease (CKD) may be inadequate for patients with end-stage kidney disease (ESKD) on dialysis. We aimed to analyse the HL profile of patients with ESKD and non-dialysis CKD and examine if there were significant associations with covariates which could be targeted to address HL deficits, thereby improving patient outcomes.Design and settingCross-sectional study of patients with CKD and ESKD from a single Australian health district.MethodsWe assessed the HL profile of 114 patients with CKD and 109 patients with ESKD using a 44-item multidomain Health Literacy Questionnaire (HLQ) and examined its association with demographic factors (age, gender, race), smoking, income, education, comorbidities, carer status, cognitive function and depression. Using multivariable logistic regression models, HL profiles of patients with CKD and ESKD were evaluated after adjusting for covariates.ResultsPatients with ESKD had similar demographics and educational levels compared with patients with CKD. ESKD had significantly higher frequency of vascular disease, cognitive impairment and depression. Patients with ESKD had better HL scores for the social support domain (37.1% vs 19.5% in higher HLQ4 tertile, p=0.004), whereas all other HL domains including engagement with healthcare providers were comparable to CKD. Depression was independently associated with nearly all of the HL domains (HLQ1: OR 2.6, p=0.030; HLQ2: OR 7.9, p=<0.001; HLQ3: OR 7.6, p<0.001; HLQ4: OR 3.5, p=0.010; HLQ5: OR 8.9, p=0.001; HLQ6: OR 3.9, p=0.002; HLQ7: OR 4.8, p=0.001; HLQ8: OR 5.3, p=0.001) and education with HL domains relevant to processing health-related information (HLQ8: OR 2.6, p=0.008; HLQ9: OR 2.5, p=0.006).ConclusionsDespite very frequent interactions with health systems, patients with ESKD on dialysis did not have higher HL in engagement with health providers and most other HL domains, compared with patients with CKD. Strategies promoting patient-provider engagement and managing depression which strongly associates with lower HL may address the impact of HL deficits and favourably modify clinical outcomes in renal patients.

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Screening Fabry's disease in chronic kidney disease patients not on dialysis: a multicenter study.

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Screening Fabry's disease in chronic kidney disease patients not on dialysis: a multicenter study.

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