Mucopolysaccharidosis type VI in Russia, Kazakhstan, and Central and Eastern Europe
Background The aim of this study was to describe the natural clinical course, incidence and prevalence of mucopolysaccharidosis type VI (MPS VI) in Russia, Kazakhstan, and Central and Eastern Europe. Methods Patients (n = 49) were identified by retrieving the data from eight international centers fo...
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| Veröffentlicht in: | Pediatrics international 2014-08, Vol.56 (4), p.520-525 |
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| creator | Jurecka, Agnieszka Zakharova, Ekaterina Cimbalistiene, Loreta Gusina, Nina Malinova, Vera Różdżyńska-Świątkowska, Agnieszka Golda, Adam Kulpanovich, Anna Kaldenovna Abdilova, Gulnara Voskoboeva, Elena Tylki-Szymańska, Anna |
| description | Background
The aim of this study was to describe the natural clinical course, incidence and prevalence of mucopolysaccharidosis type VI (MPS VI) in Russia, Kazakhstan, and Central and Eastern Europe.
Methods
Patients (n = 49) were identified by retrieving the data from eight international centers for MPS VI.
Results
A large number of patients presented with an attenuated phenotype (33%). Height and genotype were related to the severity of the disease, while no clear trend was observed between height and urinary glycosaminoglycan level. A high prevalence of the p.R152W mutation was observed both in the whole series (42%) as well as in Russian patients (43%). The incidence rate ranged from 0.0363 to 0.64 per 100 000 live births in Poland and Lithuania, respectively.
Conclusions
The observed high p.R152W carrier frequency in the Lithuanian population may indicate a possible founder effect in this region. The high prevalence of this mutation observed in the whole series, as well as the Slavic origin of the majority of patients homozygous for this mutation, suggest that p.R152W may be of Slavic, not Lithuanian origin. Resettlement of the Polish population after World War II resulted in dilution of the prevalence of carriers in Poland and a very low MPS VI incidence. |
| doi_str_mv | 10.1111/ped.12281 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_proquest_miscellaneous_1566110460</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>1566110460</sourcerecordid><originalsourceid>FETCH-LOGICAL-i4461-b7c7da8a2149d7845c1d037049d3675da9faf80044095eb61a3da070d6aa22d43</originalsourceid><addsrcrecordid>eNpdkUlPwzAQhS0EYj_wB1AkLhwIjJfY6RG1ZRGr2G_WNHaFIU2CnQjKr8e0wIG5zLP8vdFoHiFbFPZprIPGmn3KWE4XyCoVgqUM4Gkxas7yNAepVshaCC8AkKtcLJMVJrjiIGGV3F50Rd3U5TRgUTyjd6YOLiTttLHJw2niquSmC8HhXnKGn_j6HFqs9hKsTNK3VeuxnOkhhtb6Khl2vm7sBlkaYxns5k9fJ_dHw7v-SXp-dXzaPzxPnRCSpiNVKIM5Mip6Ju6VFdQAVxBfXKrMYG-M4xxACOhldiQpcoOgwEhExozg62R3Prfx9VtnQ6snLhS2LLGydRc0zaSkFISEiO78Q1_qzldxu28qy6hkSkZq-4fqRhNrdOPdBP1U_54rAgdz4N2Vdvr3T0F_56BjDnqWg74eDmYiOtK5w8ULffw50L9qqbjK9OPlsc754BbY3ZHu8S9ZBIbv</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1565516276</pqid></control><display><type>article</type><title>Mucopolysaccharidosis type VI in Russia, Kazakhstan, and Central and Eastern Europe</title><source>MEDLINE</source><source>Wiley Online Library Journals Frontfile Complete</source><creator>Jurecka, Agnieszka ; Zakharova, Ekaterina ; Cimbalistiene, Loreta ; Gusina, Nina ; Malinova, Vera ; Różdżyńska-Świątkowska, Agnieszka ; Golda, Adam ; Kulpanovich, Anna ; Kaldenovna Abdilova, Gulnara ; Voskoboeva, Elena ; Tylki-Szymańska, Anna</creator><creatorcontrib>Jurecka, Agnieszka ; Zakharova, Ekaterina ; Cimbalistiene, Loreta ; Gusina, Nina ; Malinova, Vera ; Różdżyńska-Świątkowska, Agnieszka ; Golda, Adam ; Kulpanovich, Anna ; Kaldenovna Abdilova, Gulnara ; Voskoboeva, Elena ; Tylki-Szymańska, Anna</creatorcontrib><description>Background
The aim of this study was to describe the natural clinical course, incidence and prevalence of mucopolysaccharidosis type VI (MPS VI) in Russia, Kazakhstan, and Central and Eastern Europe.
Methods
Patients (n = 49) were identified by retrieving the data from eight international centers for MPS VI.
Results
A large number of patients presented with an attenuated phenotype (33%). Height and genotype were related to the severity of the disease, while no clear trend was observed between height and urinary glycosaminoglycan level. A high prevalence of the p.R152W mutation was observed both in the whole series (42%) as well as in Russian patients (43%). The incidence rate ranged from 0.0363 to 0.64 per 100 000 live births in Poland and Lithuania, respectively.
Conclusions
The observed high p.R152W carrier frequency in the Lithuanian population may indicate a possible founder effect in this region. The high prevalence of this mutation observed in the whole series, as well as the Slavic origin of the majority of patients homozygous for this mutation, suggest that p.R152W may be of Slavic, not Lithuanian origin. Resettlement of the Polish population after World War II resulted in dilution of the prevalence of carriers in Poland and a very low MPS VI incidence.</description><identifier>ISSN: 1328-8067</identifier><identifier>EISSN: 1442-200X</identifier><identifier>DOI: 10.1111/ped.12281</identifier><identifier>PMID: 24373060</identifier><language>eng</language><publisher>Australia: Blackwell Publishing Ltd</publisher><subject>Child ; Child, Preschool ; Epidemiology ; Europe - epidemiology ; Female ; genotype-phenotype analysis ; Humans ; Incidence ; Kazakhstan - epidemiology ; Male ; Maroteaux-Lamy syndrome ; Metabolic disorders ; Mucopolysaccharidosis VI - diagnosis ; Mucopolysaccharidosis VI - epidemiology ; Mucopolysaccharidosis VI - genetics ; Mutation ; natural history ; Pediatrics ; Phenotype ; Prevalence ; Russia - epidemiology ; urinary glycosaminoglycan</subject><ispartof>Pediatrics international, 2014-08, Vol.56 (4), p.520-525</ispartof><rights>2013 Japan Pediatric Society</rights><rights>2013 Japan Pediatric Society.</rights><rights>Copyright © 2014 Japan Pediatric Society</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1111%2Fped.12281$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Fped.12281$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,776,780,1411,27901,27902,45550,45551</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/24373060$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Jurecka, Agnieszka</creatorcontrib><creatorcontrib>Zakharova, Ekaterina</creatorcontrib><creatorcontrib>Cimbalistiene, Loreta</creatorcontrib><creatorcontrib>Gusina, Nina</creatorcontrib><creatorcontrib>Malinova, Vera</creatorcontrib><creatorcontrib>Różdżyńska-Świątkowska, Agnieszka</creatorcontrib><creatorcontrib>Golda, Adam</creatorcontrib><creatorcontrib>Kulpanovich, Anna</creatorcontrib><creatorcontrib>Kaldenovna Abdilova, Gulnara</creatorcontrib><creatorcontrib>Voskoboeva, Elena</creatorcontrib><creatorcontrib>Tylki-Szymańska, Anna</creatorcontrib><title>Mucopolysaccharidosis type VI in Russia, Kazakhstan, and Central and Eastern Europe</title><title>Pediatrics international</title><addtitle>Pediatr Int</addtitle><description>Background
The aim of this study was to describe the natural clinical course, incidence and prevalence of mucopolysaccharidosis type VI (MPS VI) in Russia, Kazakhstan, and Central and Eastern Europe.
Methods
Patients (n = 49) were identified by retrieving the data from eight international centers for MPS VI.
Results
A large number of patients presented with an attenuated phenotype (33%). Height and genotype were related to the severity of the disease, while no clear trend was observed between height and urinary glycosaminoglycan level. A high prevalence of the p.R152W mutation was observed both in the whole series (42%) as well as in Russian patients (43%). The incidence rate ranged from 0.0363 to 0.64 per 100 000 live births in Poland and Lithuania, respectively.
Conclusions
The observed high p.R152W carrier frequency in the Lithuanian population may indicate a possible founder effect in this region. The high prevalence of this mutation observed in the whole series, as well as the Slavic origin of the majority of patients homozygous for this mutation, suggest that p.R152W may be of Slavic, not Lithuanian origin. Resettlement of the Polish population after World War II resulted in dilution of the prevalence of carriers in Poland and a very low MPS VI incidence.</description><subject>Child</subject><subject>Child, Preschool</subject><subject>Epidemiology</subject><subject>Europe - epidemiology</subject><subject>Female</subject><subject>genotype-phenotype analysis</subject><subject>Humans</subject><subject>Incidence</subject><subject>Kazakhstan - epidemiology</subject><subject>Male</subject><subject>Maroteaux-Lamy syndrome</subject><subject>Metabolic disorders</subject><subject>Mucopolysaccharidosis VI - diagnosis</subject><subject>Mucopolysaccharidosis VI - epidemiology</subject><subject>Mucopolysaccharidosis VI - genetics</subject><subject>Mutation</subject><subject>natural history</subject><subject>Pediatrics</subject><subject>Phenotype</subject><subject>Prevalence</subject><subject>Russia - epidemiology</subject><subject>urinary glycosaminoglycan</subject><issn>1328-8067</issn><issn>1442-200X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2014</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpdkUlPwzAQhS0EYj_wB1AkLhwIjJfY6RG1ZRGr2G_WNHaFIU2CnQjKr8e0wIG5zLP8vdFoHiFbFPZprIPGmn3KWE4XyCoVgqUM4Gkxas7yNAepVshaCC8AkKtcLJMVJrjiIGGV3F50Rd3U5TRgUTyjd6YOLiTttLHJw2niquSmC8HhXnKGn_j6HFqs9hKsTNK3VeuxnOkhhtb6Khl2vm7sBlkaYxns5k9fJ_dHw7v-SXp-dXzaPzxPnRCSpiNVKIM5Mip6Ju6VFdQAVxBfXKrMYG-M4xxACOhldiQpcoOgwEhExozg62R3Prfx9VtnQ6snLhS2LLGydRc0zaSkFISEiO78Q1_qzldxu28qy6hkSkZq-4fqRhNrdOPdBP1U_54rAgdz4N2Vdvr3T0F_56BjDnqWg74eDmYiOtK5w8ULffw50L9qqbjK9OPlsc754BbY3ZHu8S9ZBIbv</recordid><startdate>201408</startdate><enddate>201408</enddate><creator>Jurecka, Agnieszka</creator><creator>Zakharova, Ekaterina</creator><creator>Cimbalistiene, Loreta</creator><creator>Gusina, Nina</creator><creator>Malinova, Vera</creator><creator>Różdżyńska-Świątkowska, Agnieszka</creator><creator>Golda, Adam</creator><creator>Kulpanovich, Anna</creator><creator>Kaldenovna Abdilova, Gulnara</creator><creator>Voskoboeva, Elena</creator><creator>Tylki-Szymańska, Anna</creator><general>Blackwell Publishing Ltd</general><scope>BSCLL</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>7TK</scope><scope>7U9</scope><scope>H94</scope><scope>K9.</scope><scope>7X8</scope></search><sort><creationdate>201408</creationdate><title>Mucopolysaccharidosis type VI in Russia, Kazakhstan, and Central and Eastern Europe</title><author>Jurecka, Agnieszka ; Zakharova, Ekaterina ; Cimbalistiene, Loreta ; Gusina, Nina ; Malinova, Vera ; Różdżyńska-Świątkowska, Agnieszka ; Golda, Adam ; Kulpanovich, Anna ; Kaldenovna Abdilova, Gulnara ; Voskoboeva, Elena ; Tylki-Szymańska, Anna</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-i4461-b7c7da8a2149d7845c1d037049d3675da9faf80044095eb61a3da070d6aa22d43</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2014</creationdate><topic>Child</topic><topic>Child, Preschool</topic><topic>Epidemiology</topic><topic>Europe - epidemiology</topic><topic>Female</topic><topic>genotype-phenotype analysis</topic><topic>Humans</topic><topic>Incidence</topic><topic>Kazakhstan - epidemiology</topic><topic>Male</topic><topic>Maroteaux-Lamy syndrome</topic><topic>Metabolic disorders</topic><topic>Mucopolysaccharidosis VI - diagnosis</topic><topic>Mucopolysaccharidosis VI - epidemiology</topic><topic>Mucopolysaccharidosis VI - genetics</topic><topic>Mutation</topic><topic>natural history</topic><topic>Pediatrics</topic><topic>Phenotype</topic><topic>Prevalence</topic><topic>Russia - epidemiology</topic><topic>urinary glycosaminoglycan</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Jurecka, Agnieszka</creatorcontrib><creatorcontrib>Zakharova, Ekaterina</creatorcontrib><creatorcontrib>Cimbalistiene, Loreta</creatorcontrib><creatorcontrib>Gusina, Nina</creatorcontrib><creatorcontrib>Malinova, Vera</creatorcontrib><creatorcontrib>Różdżyńska-Świątkowska, Agnieszka</creatorcontrib><creatorcontrib>Golda, Adam</creatorcontrib><creatorcontrib>Kulpanovich, Anna</creatorcontrib><creatorcontrib>Kaldenovna Abdilova, Gulnara</creatorcontrib><creatorcontrib>Voskoboeva, Elena</creatorcontrib><creatorcontrib>Tylki-Szymańska, Anna</creatorcontrib><collection>Istex</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>Neurosciences Abstracts</collection><collection>Virology and AIDS Abstracts</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>MEDLINE - Academic</collection><jtitle>Pediatrics international</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Jurecka, Agnieszka</au><au>Zakharova, Ekaterina</au><au>Cimbalistiene, Loreta</au><au>Gusina, Nina</au><au>Malinova, Vera</au><au>Różdżyńska-Świątkowska, Agnieszka</au><au>Golda, Adam</au><au>Kulpanovich, Anna</au><au>Kaldenovna Abdilova, Gulnara</au><au>Voskoboeva, Elena</au><au>Tylki-Szymańska, Anna</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Mucopolysaccharidosis type VI in Russia, Kazakhstan, and Central and Eastern Europe</atitle><jtitle>Pediatrics international</jtitle><addtitle>Pediatr Int</addtitle><date>2014-08</date><risdate>2014</risdate><volume>56</volume><issue>4</issue><spage>520</spage><epage>525</epage><pages>520-525</pages><issn>1328-8067</issn><eissn>1442-200X</eissn><abstract>Background
The aim of this study was to describe the natural clinical course, incidence and prevalence of mucopolysaccharidosis type VI (MPS VI) in Russia, Kazakhstan, and Central and Eastern Europe.
Methods
Patients (n = 49) were identified by retrieving the data from eight international centers for MPS VI.
Results
A large number of patients presented with an attenuated phenotype (33%). Height and genotype were related to the severity of the disease, while no clear trend was observed between height and urinary glycosaminoglycan level. A high prevalence of the p.R152W mutation was observed both in the whole series (42%) as well as in Russian patients (43%). The incidence rate ranged from 0.0363 to 0.64 per 100 000 live births in Poland and Lithuania, respectively.
Conclusions
The observed high p.R152W carrier frequency in the Lithuanian population may indicate a possible founder effect in this region. The high prevalence of this mutation observed in the whole series, as well as the Slavic origin of the majority of patients homozygous for this mutation, suggest that p.R152W may be of Slavic, not Lithuanian origin. Resettlement of the Polish population after World War II resulted in dilution of the prevalence of carriers in Poland and a very low MPS VI incidence.</abstract><cop>Australia</cop><pub>Blackwell Publishing Ltd</pub><pmid>24373060</pmid><doi>10.1111/ped.12281</doi><tpages>6</tpages><oa>free_for_read</oa></addata></record> |
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| identifier | ISSN: 1328-8067 |
| ispartof | Pediatrics international, 2014-08, Vol.56 (4), p.520-525 |
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| source | MEDLINE; Wiley Online Library Journals Frontfile Complete |
| subjects | Child Child, Preschool Epidemiology Europe - epidemiology Female genotype-phenotype analysis Humans Incidence Kazakhstan - epidemiology Male Maroteaux-Lamy syndrome Metabolic disorders Mucopolysaccharidosis VI - diagnosis Mucopolysaccharidosis VI - epidemiology Mucopolysaccharidosis VI - genetics Mutation natural history Pediatrics Phenotype Prevalence Russia - epidemiology urinary glycosaminoglycan |
| title | Mucopolysaccharidosis type VI in Russia, Kazakhstan, and Central and Eastern Europe |
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