scholarly journals SP033A MULTICENTER SCREENING OF FABRY DISEASE IN HIGH-RISK POPULATIONS USING DRIED BLOOD SPOTS ON FILTER PAPER IN JAPAN

2017 ◽  
Vol 32 (suppl_3) ◽  
pp. iii116-iii116
Author(s):  
Naoki Nakagawa ◽  
Naoyuki Hasebe
Keyword(s):  
High Risk ◽  
Fabry Disease ◽  
Filter Paper ◽  
Dried Blood Spots ◽  
Blood Spots ◽  
High Risk Populations

103. Screening for Fabry and Pompe disease in high risk populations by enzyme assay of dried blood spots

2010 ◽  
Vol 99 (2) ◽  
pp. S29
Author(s):  
Oliver Parks ◽  
Heather Church ◽  
Karen Tylee ◽  
Alan Cooper
Keyword(s):  
High Risk ◽  
Pompe Disease ◽  
Enzyme Assay ◽  
Dried Blood Spots ◽  
Blood Spots ◽  
High Risk Populations

scholarly journals Fabry disease screening in high-risk populations in Japan: A nationwide study

2020 ◽  
Author(s):  
Shinichiro Yoshida ◽  
Jun Kido ◽  
Takaaki Sawada ◽  
Ken Momosaki ◽  
Keishin Sugawara ◽  
...  
Keyword(s):  
High Risk ◽  
Fabry Disease ◽  
Dried Blood Spots ◽  
Neurological Manifestations ◽  
Study Results ◽  
Novel Variants ◽  
Screening Study ◽  
Screening Protocol ◽  
High Risk Populations ◽  
Gla Gene

Abstract Background: Fabry disease (FD) is a X-linked inherited disorder caused by mutations in the GLA gene, which results in the deficiency of α-galactosidase A (α-Gal A). This leads to the progressive accumulation of metabolites, which can cause multisystemic dysfunction. A recent screening study among neonates reported an increase in the incidence of FD, and numerous FD patients remain undiagnosed or even misdiagnosed . Therefore, this study aimed to identify patients with FD by performing high-risk screening in 18,135 individuals, enrolled from October 2006 to March 2019, with renal, cardiac, or neurological manifestations from all prefectures in Japan . A total of 601 hospitals participated in this study. Results: Low α-Gal A activity was detected in 846 individuals, with 224 of them diagnosed with FD by GLA sequencing. Cases with a family history of FD (n = 64) were also subjected to sequencing, without α-Gal A assay, as per individual request, and 12 of them were diagnosed with a variant of FD. A total of 236 patients with FD (97 males and 139 females) were identified from among 18,199 participants. A total of 101 GLA variants, including 26 novel variants, were detected in the 236 patients with FD from 143 families, with 39 amenable variants (39%) and 79 of the 236 patients (33%) suitable for migalastat treatment. Conclusions: From among 18,199 participants, 101 GLA variants, including 26 novel variants, were identified in the 236 patients with FD from 143 families. Migalastat was identified as a suitable treatment option in 33% of the patients with FD and 39% of the GLA variants were detected as amenable. Therefore, the simple screening protocol using dried blood spots that was performed in this study could be useful for early diagnosis and selection of appropriate treatments for FD in high-risk and underdiagnosed patients with various renal, cardiac, or neurological manifestations.

scholarly journals Screening for HIV, hepatitis B and syphilis on dried blood spots: A promising method to better reach hidden high-risk populations with self-collected sampling

PLoS ONE ◽  
2017 ◽  
Vol 12 (10) ◽  
pp. e0186722 ◽  
Author(s):  
Inge H. M. van Loo ◽  
Nicole H. T. M. Dukers-Muijrers ◽  
Rosalie Heuts ◽  
Marianne A. B. van der Sande ◽  
Christian J. P. A. Hoebe
Keyword(s):  
High Risk ◽  
Hepatitis B ◽  
Dried Blood Spots ◽  
Promising Method ◽  
Blood Spots ◽  
High Risk Populations

scholarly journals Fabry disease screening in high-risk populations in Japan: A nationwide study

2020 ◽  
Author(s):  
Shinichiro Yoshida ◽  
Jun Kido ◽  
Takaaki Sawada ◽  
Ken Momosaki ◽  
Keishin Sugawara ◽  
...  
Keyword(s):  
High Risk ◽  
Fabry Disease ◽  
Dried Blood Spots ◽  
Neurological Manifestations ◽  
Study Results ◽  
Novel Variants ◽  
Screening Study ◽  
Screening Protocol ◽  
High Risk Populations ◽  
Gla Gene

Abstract Background: Fabry disease (FD) is a X-linked inherited disorder caused by mutations in the GLA gene, which results in the deficiency of α-galactosidase A (α-Gal A). This leads to the progressive accumulation of metabolites, which can cause malfunctions in systemic organs. A recent screening study among neonates reported an increase in the incidence of FD, and numerous FD patients remain undiagnosed or even misdiagnosed . Therefore, this study aimed to identify patients with FD by performing high-risk screening in 18,135 individuals, enrolled from October 2006 to March 2019, with renal, cardiac, or neurological manifestations from all prefectures in Japan . A total of 601 hospitals participated in this study. Results: Low α-Gal A activity was detected in 846 individuals, with 224 of them diagnosed with FD by GLA sequencing. Cases with a family history of FD (n = 64) were also subjected to sequencing, without α-Gal A assay, as per individual request, and 12 of them were diagnosed with a variant of FD. A total of 236 patients with FD (97 males and 139 females) were identified from among 18,199 participants. A total of 101 GLA variants, including 26 novel variants, were detected in the 236 patients with FD from 143 families, with 39 amenable variants (39%) and 79 of the 236 patients (33%) suitable for migalastat treatment. Conclusions: From among 18,199 participants, 101 GLA variants, including 26 novel variants, were identified in the 236 patients with FD from 143 families. Migalastat was identified as a suitable treatment option in 33% of the patients with FD and 39% of the GLA variants were detected as amenable. Therefore, the simple screening protocol using dried blood spots that was performed in this study could be useful for early diagnosis and selection of appropriate treatments for FD in high-risk and underdiagnosed patients with various renal, cardiac, or neurological manifestations.

Fabry disease: enzymatic diagnosis in dried blood spots on filter paper

2001 ◽  
Vol 308 (1-2) ◽  
pp. 195-196 ◽  
Author(s):  
N.A Chamoles ◽  
M Blanco ◽  
D Gaggioli
Keyword(s):  
Fabry Disease ◽  
Filter Paper ◽  
Dried Blood Spots ◽  
Blood Spots

scholarly journals Fabry disease screening in high-risk populations in Japan: A nationwide study

2020 ◽  
Author(s):  
Shinichiro Yoshida ◽  
Jun Kido ◽  
Takaaki Sawada ◽  
Ken Momosaki ◽  
Keishin Sugawara ◽  
...  
Keyword(s):  
High Risk ◽  
Fabry Disease ◽  
Dried Blood Spots ◽  
Neurological Manifestations ◽  
Novel Variants ◽  
Screening Study ◽  
Screening Protocol ◽  
History Of ◽  
High Risk Populations ◽  
Suitable Treatment

Abstract Background: Fabry disease (FD) is a X-linked inherited disorder caused by mutations in the GLA gene, which results in deficiency of α-galactosidase A (α-Gal A). This leads to the progressive accumulation of metabolites, which can cause malfunctions in systemic organs. A recent screening study in newborns showed that the incidence of FD was more frequent than previously estimated and that there are still many undiagnosed or misdiagnosed patients with FD. Therefore, the purpose of this study was to identify patients with FD by performing high-risk screening in 18,135 individuals, enrolled from October 2006 to March 2019, with renal, cardiac, or neurological manifestations from all of the prefectures in Japan. A total of 601 hospitals participated in this study.Results: Low α-Gal A activity was detected in 846 individuals, with 224 of them diagnosed with FD by GLA sequencing. Cases with a family history of FD (n = 64) were also subjected to sequencing, without α-Gal A assay, as per individual request, and 12 of them were diagnosed with a variant of FD. A total of 236 patients with FD (97 males and 139 females) were detected from the 18,199 participants. A total of 101 GLA variants, including 26 novel variants, were detected in the 236 patients with FD from 143 families, with 39 amenable variants (39%) and 79 of the 236 patients (33%) suitable for migalastat treatment.Conclusions: From the 18,199 participants, 101 GLA variants, including 26 novel variants, were identified in the 236 patients with FD from 143 families. Migalastat was identified as a suitable treatment option in 33% of the patients with FD and 39% of the GLA variants were detected as amenable. Therefore, the simple screening protocol using dried blood spots that was performed in this study could be useful for early diagnosis and selection of appropriate treatments for FD in high-risk and underdiagnosed patients with various renal, cardiac, or neurological manifestations.

scholarly journals Fabry disease screening in high-risk populations in Japan: A nationwide study

2020 ◽  
Author(s):  
Shinichiro Yoshida ◽  
Jun Kido ◽  
Takaaki Sawada ◽  
Ken Momosaki ◽  
Keishin Sugawara ◽  
...  
Keyword(s):  
High Risk ◽  
Fabry Disease ◽  
Dried Blood Spots ◽  
Neurological Manifestations ◽  
Study Results ◽  
Novel Variants ◽  
Screening Study ◽  
Screening Protocol ◽  
High Risk Populations ◽  
Gla Gene

Abstract Background: Fabry disease (FD) is a rare, X-linked inherited disorder caused by mutations in the GLA gene, which results in deficiency of α-galactosidase A (α-Gal A). This leads to the progressive accumulation of metabolites, which can cause malfunctions in systemic organs. A recent screening study in newborns demonstrated that the incidence of FD was more frequent than previously estimated and that there are still many undiagnosed or misdiagnosed Fabry patients. Therefore, the purpose of this study was to identify Fabry patients by performing high-risk screening in 18,171 individuals, enrolled from October 2006 to March 2019, with renal, cardiac, or neurological manifestations from all of the prefectures in Japan. A total of 601 hospitals from all the prefectures in Japan participated in this study. Results: From October 2006 to March 2019, 18,171 individuals with renal, cardiac, or neurological manifestations were enrolled. Low α-Gal A activity was detected in 846 individuals, with 224 of them diagnosed with FD by GLA sequencing. Cases with a family history of FD (n = 64) were also subjected to sequencing, without α-Gal A assay, as per individual request and 12 of them were diagnosed with a variant of FD. A total of 236 Fabry patients (97 males and 139 females) were detected from the 18,235 participants. There were 101 GLA variants, including 26 novel variants, detected in the 236 Fabry patients from 143 families, with 39 amenable variants (39%) and 79 of the 236 patients (33%) suitable for migalastat treatment. Conclusions: From the 18,235 participants, 101 GLA variants, including 26 novel variants, were identified in the 236 Fabry patients from 143 families. Migalastat was identified as a suitable treatment option in 33% of the Fabry patients and 39% of the GLA variants were detected as amenable. Therefore, the simple screening protocol, using dried blood spots, that was performed in this study could be useful for early diagnosis and selection of appropriate treatments for FD in high-risk and underdiagnosed patients suffering from various renal, cardiac, or neurological manifestations.

Screening of high-risk Gaucher disease patients in Brazil using miniaturized dried blood spots and leukocyte techniques

Gene ◽  
2012 ◽  
Vol 508 (2) ◽  
pp. 197-198 ◽  
Author(s):  
Mariana Pereira de Souza Goldim ◽  
Cristina da Silva Garcia ◽  
Cristina Dickie de Castilhos ◽  
Vanessa Vitcoski Daitx ◽  
Jamila Mezzalira ◽  
...  
Keyword(s):  
High Risk ◽  
Gaucher Disease ◽  
Dried Blood Spots ◽  
Blood Spots

Alpha- l -iduronidase and arylsulfatase B in dried blood spots on filter paper: Biochemical parameters and time stability

2017 ◽  
Vol 50 (7-8) ◽  
pp. 431-435 ◽  
Author(s):  
Ana Carolina Breier ◽  
Jaqueline Cé ◽  
Jamila Mezzalira ◽  
Vanessa V. Daitx ◽  
Vitoria C. Moraes ◽  
...  
Keyword(s):  
Filter Paper ◽  
Biochemical Parameters ◽  
Dried Blood Spots ◽  
Time Stability ◽  
Blood Spots ◽  
Arylsulfatase B
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