Screening of Fabry disease in patients with chronic kidney disease in Japan

Nagata, Akihisa; Nasu, Makoto; Kaida, Yusuke; Nakayama, Yosuke; Kurokawa, Yuka; Nakamura, Nao; Shibata, Ryoko; Hazama, Takuma; Tsukimura, Takahiro; Togawa, Tadayasu; Saito, Seiji; Sakuraba, Hitoshi; Fukami, Kei

doi:10.1093/ndt/gfaa324

Cited by 13 publications

(11 citation statements)

References 52 publications

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“…In this retrospective study, we report, for the first time, that the prevalence of biopsy-proven FN in patients with CKD is 0.076%. To date, the prevalence of FD in male patients with CKD has been reported to be 0.48% [ 11 ], which is much higher than that reported in our study. These discrepancies may be explained by several factors.…”

Section: Discussioncontrasting

confidence: 77%

“…In adults, the prevalence of male FD patients with end-stage kidney disease (ESKD) undergoing hemodialysis, left ventricular hypertrophy or hypertrophic cardiomyopathy, and acute subclinical stroke was 0.25–1%, 1.0%, and 5%, respectively, as examined by plasma GLA activity [ 7 – 10 ]. Furthermore, we recently reported that the prevalence of FD in male patients with chronic kidney disease (CKD) with and without dialysis is 0.06% (1/1703)–0.48% (2/419), respectively [ 11 ].…”

Section: Introductionmentioning

confidence: 99%

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A nationwide cross-sectional analysis of biopsy-proven Fabry nephropathy: the Japan Renal Biopsy Registry

et al. 2022

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Background Fabry disease (FD) is an X-linked inherited disease where renal complications are associated with a poor prognosis. However, little is known about the prevalence of Fabry nephropathy (FN) in patients with chronic kidney disease (CKD). We extracted FN data from the Japan Renal Biopsy Registry, analyzed the prevalence of FN, and examined the correlation between clinical characteristics and renal involvement according to sex differences and hemi- and heterozygosity in patients with FD. Methods A total of 38,351 participants who underwent renal biopsy were retrospectively enrolled, and FN was determined. The clinical characteristics of FD patients were examined based on sex differences. Results Twenty-nine patients (0.076%) (19 males and 10 females, mean age: 43.7 ± 15.5 years old) were diagnosed with FN. Median estimated urinary protein (UP) and mean eGFR levels were 0.9 [interquartile range (IQR) [0.7–1.6] g/gCr and 67.1 ± 36.8 mL/min/1.73 m2, respectively. Mean systolic blood pressure (SBP) was 126.4 ± 17.1 mmHg and diastolic blood pressure was 76.1 ± 12.6 mmHg. An inverse correlation between eGFR and logarithm UP levels was observed (r2 = 0.23, p = 0.02), SBP was positively associated with logarithm UP (r2 = 0.34, p = 0.004) overall and inversely associated with eGFR (r2 = 0.25, p = 0.007) regardless of sex, and SBP was an independent determinant of proteinuria (p = 0.004) and eGFR (p = 0.007). Conclusions The prevalence of biopsy-proven FN was 0.076%. Since SBP is associated with eGFR regardless of zygosity, strict SBP control might be necessary to prevent progression to end-stage kidney disease in both male and female patients with FN.

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Section: Discussioncontrasting

confidence: 77%

Section: Introductionmentioning

confidence: 99%

A nationwide cross-sectional analysis of biopsy-proven Fabry nephropathy: the Japan Renal Biopsy Registry

et al. 2022

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“…The limitation of this study is a smaller sample size than those of previous studies. In recent years, high-risk screening of patients with renal, cardiac, or neurological manifestations has been conducted in Japan [17][18][19], and their sample size are big compared with this study. However, we focused on influence of both the genetic and geographical factors on the prevalence of Fabry's disease in the present study.…”

Section: Discussionmentioning

confidence: 99%

Screening for Fabry disease among male patients on hemodialysis in Awaji Island

et al. 2022

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Fabry disease (FD) manifests decreased α-galactosidase A (α-Gal A) activity and multiorgan damage. There are some undiagnosed cases of the condition among patients on dialysis. The prevalence of FD may also vary with the region. Among 227 male patients undergoing maintenance hemodialysis in Awaji Island, a remote island in Japan, 201 (88.5%) were included in this study. Patients with α-Gal A activity <5.0 pmol/h/disk proceeded to secondary screening. Patients with positive secondary screening underwent further genetic analysis. The number of patients with a family history of cardiac, cerebrovascular, and kidney diseases was 31 (15.4%), 23 (11.4%), and 31 (15.4%) patients, respectively. Although three patients (1.5%) had low α-Gal A activity, none of them was positive in the secondary screening. We could not identify any male hemodialysis patient with FD in Awaji Island, even though some patients had a family history of kidney and cardiovascular diseases.

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“…Moving from broad to more specific, new evidence is also emerging around including the potential screening of CKD patients for very rare monogenic kidney diseases such as Fabry disease. Whilst overall prevalence has been confirmed to be very low (<0.5%) amongst those with CKD [32][33][34][35], there are still cases who appear to only have been identified via cohort-screening approaches. This is all the more pointed as targeted therapies for Fabry disease are available and in clinical use.…”

Section: New Indications For Genomic Testingmentioning

confidence: 99%

Which patients with CKD will benefit from genomic sequencing? Synthesizing progress to illuminate the future

Mallett

2022

Current Opinion in Nephrology &Amp; Hypertension

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Purpose of reviewThis review will summarize and synthesize recent findings in regard to monogenic kidney disorders, including how that evidence is being translated into practice. It will add to existing key knowledge to provide context for clinicians in consolidating existing practice and approaches.Recent findingsWhilst there are long established factors, which indicate increased likelihood of identifying a monogenic cause for kidney disease, these can now be framed in terms of the identification of new genes, new indications for genomic testing and new evidence for clinical utility of genomic testing in nephrology. Further, inherent in the use of genomics in nephrology are key concepts including robust informed consent, variant interpretation and return of results. Recent findings of variants in genes related to complex or broader kidney phenotypes are emerging in addition to understanding of de novo variants. Phenocopy phenomena are indicating a more pragmatic use of broader gene panels whilst evidence is emerging of a role in unexplained kidney disease. Clinical utility is evolving but is being successfully demonstrated across multiple domains of outcome and practice.SummaryWe provide an updated framework of evidence to guide application of genomic testing in chronic kidney disease (CKD), building upon existing principles and knowledge to indicate how the practice and implementation of this can be applied today. There are clearly established roles for genomic testing for some patients with CKD, largely those with suspected heritable forms, with these continuing to expand as new evidence emerges.

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Screening of Fabry disease in patients with chronic kidney disease in Japan

Cited by 13 publications

References 52 publications

A nationwide cross-sectional analysis of biopsy-proven Fabry nephropathy: the Japan Renal Biopsy Registry

A nationwide cross-sectional analysis of biopsy-proven Fabry nephropathy: the Japan Renal Biopsy Registry

Screening for Fabry disease among male patients on hemodialysis in Awaji Island

Which patients with CKD will benefit from genomic sequencing? Synthesizing progress to illuminate the future

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