Hypertrophic cardiomyopathy in late‐onset variant of Fabry disease with high residual activity of <i>α</i>‐galactosidase A

Nagao, Yoshiro; Nakashima, Haruko; Fukuhara, Yukiko; Shimmoto, Michie; Oshima, Akihiro; Ikari, Yuji; Mori, Yuichi; Sakuraba, Hitoshi; Suzuki, Yoshiyuki

doi:10.1111/j.1399-0004.1991.tb03018.x

Cited by 51 publications

(16 citation statements)

References 12 publications

(3 reference statements)

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“…In these subjects, if the measurement of both biomarkers does not exceed the cut-off values, it suggests that the patients are normal or variant type FD. In atypical hemizygotes, residual α-gal A activity has been reported to range from <5% to 35% of normal [1,33,34,53,54], and GL-3 levels in the urinary sediments and plasma were reported to be in the low heterozygote range of the classic type of FD [1,32,33]. We measured α-gal A protein and GL-3 levels in urine from previously diagnosed variants type FD as well as those detected by screening of high risk individuals, and the results of the measurements were similar to those described in previous reports.…”

Section: Discussionmentioning

confidence: 99%

Non-invasive high-risk screening for Fabry disease hemizygotes and heterozygotes

et al. 2008

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The most appropriate time for screening for Fabry disease (FD) is school age. For this reason, we developed non-invasive methods for measuring urinary alpha-galactosidase A (alpha-gal A) protein, using enzyme-linked immunosorbent assay (ELISA), and for globotriaosylceramide (GL-3), using tandem mass spectrometry (MS/MS). We measured these two biomarkers in the urine of previously diagnosed FD hemizygotes and heterozygotes, and in controls. All the classic FD hemizygotes were clearly distinguished from controls by either method alone, and combining the two assays produced 96% sensitivity for detecting heterozygotes. To assess the utility of these methods for screening school children and adults at high risk of FD, a pilot study was conducted. To distinguish FD from 432 controls, cut-off values for alpha-gal A protein and GL-3 were set at the 5th and 95th centile values of the controls, respectively. Among the high-risk patients, the measurements exceeded the cut-off values for both biomarkers in male and female subjects and were strong indicators for Fabry hemizygotes and heterozygotes. However, we recommend that if the results of the first measurements exceed the cut-off values for only one of these biomarkers, another urine sample should be requested for re-assay to confirm the result.

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Section: Discussionmentioning

confidence: 99%

Non-invasive high-risk screening for Fabry disease hemizygotes and heterozygotes

et al. 2008

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“…As a consequence, neutral GLs, mainly globotriaosylceramide (Gb3), accumulate in a variety of cells and tissues, leading to a wide clinical spectrum of clinical manifestations (1)(2)(3)(4). As a consequence, neutral GLs, mainly globotriaosylceramide (Gb3), accumulate in a variety of cells and tissues, leading to a wide clinical spectrum of clinical manifestations (1)(2)(3)(4).…”

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confidence: 99%

The kidney in Fabry's disease

et al. 2014

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Fabry disease (FD) is an X-linked disease in which mutations of the GLA gene result in a deficiency of the enzyme α-galactosidase A and subsequent progressive, intralysosomal deposition of undegraded glycosphingolipid products, primarily globotriaosylceramide, in multiple organs. Progressive nephropathy is one of the main features of FD and is marked by an insidious development, with an overall rate of progression of chronic kidney disease (CKD) very similar to diabetic nephropathy. Untreated patients usually develop end stage renal disease in their 50s. The decline in renal function in FD is adversely affected by male gender, advanced CKD, hypertension and, in particular, severe proteinuria. Enzyme replacement therapy (ERT) has been shown to slow the progression of Fabry nephropathy. The current consensus is that ERT should be started in all men and women with signs of renal involvement.

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“…The cardiologist can identify such clinical symptoms by asking specific additional questions on the patient's medical history. However, some Fabry disease patients may predominantly show cardiac symptoms [18,[20][21][22]42], in which case reliance on the presence of other clinical symptoms may miss a diagnosis of Fabry disease.…”

Section: Testing Of Individualsmentioning

confidence: 99%