Plasma globotriaosylsphingosine level as a primary screening target for Fabry disease in patients with left ventricular hypertrophy

Persistent ID (NDL): info:ndljp/pid/12651552

Material type: 博士論文

Author: 山下, 哲史

Publisher: 日本循環器学会

Publication date: 2019-08-23

Material Format: Digital

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Name of awarding university/degree: 浜松医科大学,博士（医学）

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Note (General)：: doctoral医学系研究科Background: Although previous studies have suggested a certain prevalence of Fabry disease (FD) in left ventricular hypertrophy (LVH) pa...

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Material Type: 博士論文
Title: Plasma globotriaosylsphingosine level as a primary screening target for Fabry disease in patients with left ventricular hypertrophy
Author/Editor: 山下, 哲史
Author Heading: 山下, 哲史
Publication, Distribution, etc.: 日本循環器学会
Publication Date: 2019-08-23
Publication Date (W3CDTF): 2019-08-23
Alternative Title: 左室肥大患者におけるPlasma globotriaosylsphingosineを使ったファブリー病の一次スクリーニング
Degree grantor/type: 浜松医科大学
Date Granted: 2022-03-14
Date Granted (W3CDTF): 2022-03-14
Dissertation Number: 甲第907号
Degree Type: 博士（医学）
Text Language Code: eng
Subject Heading: α-galactosidase A
Fabry disease
Left ventricular hypertrophy
Lyso-Gb3
Primary screening
Target Audience: 一般
Note (General): doctoral
医学系研究科
Background: Although previous studies have suggested a certain prevalence of Fabry disease (FD) in left ventricular hypertrophy (LVH) patients, the screening of FD is difficult because of its wide-ranging clinical phenotypes. We aimed to clarify the utility of combined measurement of plasma globotriaosylsphingosine (lyso-Gb3) concentration and α-galactosidase A activity (α-GAL) as a primary screening of FD in unexplained LVH patients.Methods and Results: Between 2014 and 2016, both lyso-Gb3 and α-GAL were measured in 277 consecutive patients (male 215, female 62, age 25?79 years) with left ventricular wall thickness >12 mm on echocardiogram: 5 patients (1.8%) screened positive (2 (0.7%) showed high lyso-Gb3 and 4 (1.4%) had low α-GAL levels). Finally, 2 patients (0.7%) were diagnosed with clinically significant FD. In 1 case, a female heterozygote with normal α-GAL levels had genetic variants of unknown significance and was diagnosed as FD by endomyocardial biopsy. The other case was a male chronic renal failure patient requiring hemodialysis, and he had a p.R112H mutation. In both cases there were high lyso-Gb3 levels.Conclusions: The serum lyso-Gb3 level can be relevant for clinically significant FD, and combined measurement of lyso-Gb3 and α-GAL can provide better screening of FD in unexplained LVH patients.
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Date Accepted (W3CDTF): 2023-03-02T11:18:10+09:00
Format (IMT): application/pdf
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Periodical Title (URI): http://hdl.handle.net/10271/00004220
https://hama-med.repo.nii.ac.jp/records/4098
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