Epidemiology of lysosomal storage diseases in Sweden
Abstract Aim There are more than 50 inherited lysosomal storage diseases ( LSD s), and this study examined the incidence of clinically diagnosed LSD s in Sweden. Methods The number of patients diagnosed during 1980–2009 was compiled from the registries of the two Swedish diagnostic laboratories that...
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crwiley:10.1111/apa.12807 2024-06-02T08:12:01+00:00 Epidemiology of lysosomal storage diseases in Sweden Hult, Malin Darin, Niklas von Döbeln, Ulrika Månsson, Jan‐Eric 2014 http://dx.doi.org/10.1111/apa.12807 https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fapa.12807 https://onlinelibrary.wiley.com/doi/pdf/10.1111/apa.12807 en eng Wiley http://onlinelibrary.wiley.com/termsAndConditions#vor Acta Paediatrica volume 103, issue 12, page 1258-1263 ISSN 0803-5253 1651-2227 journal-article 2014 crwiley https://doi.org/10.1111/apa.12807 2024-05-06T07:02:43Z Abstract Aim There are more than 50 inherited lysosomal storage diseases ( LSD s), and this study examined the incidence of clinically diagnosed LSD s in Sweden. Methods The number of patients diagnosed during 1980–2009 was compiled from the registries of the two Swedish diagnostic laboratories that cover the whole country. Results We identified 433 patients during the 30‐year period, with a total incidence of one in every 6100 births and identified fairly constant annual diagnoses during the last 20 years. Krabbe disease was the most common (one in 39 000) followed by Gaucher disease (one in 47 000), metachromatic leukodystrophy and Salla disease. Gaucher disease was more frequent in Sweden than other European countries, due to a founder effect of the mutation (p.L444P) in northern Sweden. Metachromatic leukodystrophy was one of the most common LSD s, in common with other countries. Salla disease, which is very rare elsewhere, was the fourth most common, stemming from a founder mutation in the Salla region of northern Finland brought to Sweden by immigration. Conclusion The collective incidence of LSD s in Sweden was essentially equal to other European countries, but with a somewhat different disease pattern. Our findings have implications for diagnostic algorithms and treatment strategies. Article in Journal/Newspaper Northern Finland Northern Sweden Wiley Online Library Salla ENVELOPE(28.667,28.667,66.833,66.833) Acta Paediatrica 103 12 1258 1263 |
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English |
description |
Abstract Aim There are more than 50 inherited lysosomal storage diseases ( LSD s), and this study examined the incidence of clinically diagnosed LSD s in Sweden. Methods The number of patients diagnosed during 1980–2009 was compiled from the registries of the two Swedish diagnostic laboratories that cover the whole country. Results We identified 433 patients during the 30‐year period, with a total incidence of one in every 6100 births and identified fairly constant annual diagnoses during the last 20 years. Krabbe disease was the most common (one in 39 000) followed by Gaucher disease (one in 47 000), metachromatic leukodystrophy and Salla disease. Gaucher disease was more frequent in Sweden than other European countries, due to a founder effect of the mutation (p.L444P) in northern Sweden. Metachromatic leukodystrophy was one of the most common LSD s, in common with other countries. Salla disease, which is very rare elsewhere, was the fourth most common, stemming from a founder mutation in the Salla region of northern Finland brought to Sweden by immigration. Conclusion The collective incidence of LSD s in Sweden was essentially equal to other European countries, but with a somewhat different disease pattern. Our findings have implications for diagnostic algorithms and treatment strategies. |
format |
Article in Journal/Newspaper |
author |
Hult, Malin Darin, Niklas von Döbeln, Ulrika Månsson, Jan‐Eric |
spellingShingle |
Hult, Malin Darin, Niklas von Döbeln, Ulrika Månsson, Jan‐Eric Epidemiology of lysosomal storage diseases in Sweden |
author_facet |
Hult, Malin Darin, Niklas von Döbeln, Ulrika Månsson, Jan‐Eric |
author_sort |
Hult, Malin |
title |
Epidemiology of lysosomal storage diseases in Sweden |
title_short |
Epidemiology of lysosomal storage diseases in Sweden |
title_full |
Epidemiology of lysosomal storage diseases in Sweden |
title_fullStr |
Epidemiology of lysosomal storage diseases in Sweden |
title_full_unstemmed |
Epidemiology of lysosomal storage diseases in Sweden |
title_sort |
epidemiology of lysosomal storage diseases in sweden |
publisher |
Wiley |
publishDate |
2014 |
url |
http://dx.doi.org/10.1111/apa.12807 https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fapa.12807 https://onlinelibrary.wiley.com/doi/pdf/10.1111/apa.12807 |
long_lat |
ENVELOPE(28.667,28.667,66.833,66.833) |
geographic |
Salla |
geographic_facet |
Salla |
genre |
Northern Finland Northern Sweden |
genre_facet |
Northern Finland Northern Sweden |
op_source |
Acta Paediatrica volume 103, issue 12, page 1258-1263 ISSN 0803-5253 1651-2227 |
op_rights |
http://onlinelibrary.wiley.com/termsAndConditions#vor |
op_doi |
https://doi.org/10.1111/apa.12807 |
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Acta Paediatrica |
container_volume |
103 |
container_issue |
12 |
container_start_page |
1258 |
op_container_end_page |
1263 |
_version_ |
1800758339880091648 |