Deciphering the premature mortality in PIGA-CDG – An untold story
•Patients with PIGA-CDG have a high risk of early mortality.•Most patients (26/30, 86 %) died before the age of 20 years.•Age at death ranged from 15 days to 48 years of age.•Half of the patients died due to respiratory failure or a possible sudden unexpected death in epilepsy (SUDEP).•Cardiomyopath...
Gespeichert in:
| Veröffentlicht in: | Epilepsy research 2021-02, Vol.170, p.106530-106530, Article 106530 |
|---|---|
| Hauptverfasser: | , , , , , , , , , , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 106530 |
|---|---|
| container_issue | |
| container_start_page | 106530 |
| container_title | Epilepsy research |
| container_volume | 170 |
| creator | Bayat, Allan Kløvgaard, Marius Johannesen, Katrine M. Barakat, Tahsin Stefan Kievit, Anneke Montomoli, Martino Parrini, Elena Pietrafusa, Nicola Schelhaas, Jurgen van Slegtenhorst, Marjon Miya, Kazushi Guerrini, Renzo Tranebjærg, Lisbeth Tümer, Zeynep Rubboli, Guido Møller, Rikke S. |
| description | •Patients with PIGA-CDG have a high risk of early mortality.•Most patients (26/30, 86 %) died before the age of 20 years.•Age at death ranged from 15 days to 48 years of age.•Half of the patients died due to respiratory failure or a possible sudden unexpected death in epilepsy (SUDEP).•Cardiomyopathy was also a cause of death.
Congenital disorder of glycosylation (CDG) due to a defective phosphatidylinositol glycan anchor biosynthesis class A protein (PIGA) is a severe X-linked developmental and epileptic encephalopathy. Seizures are often treatment refractory, and patients have intellectual disability and global developmental delay. Previous reports have suggested that patients with PIGA-CDG have a high risk of premature mortality. This study aimed to evaluate the observed high mortality and the causes of death in PIGA-CDG patients.
We reviewed the literature and collected additional unpublished patients through an international network.
In total, we reviewed the data of 88 patients of whom 30 patients born alive were deceased, and the overall mortality before the age of 20 years was 30 % (26/88). Age at death ranged from 15 days to 48 years of life. The median age at death was two years and more than half of the patients deceased in early childhood. The PIGA-specific mortality rate/1000 person-years was 44.9/1000 person-years (95 %, CI 31.4–64.3). There were no cases of definite or probable sudden unexpected death in epilepsy (SUDEP) and half of the patients died due to respiratory failure (15/30, 50 %) or possible SUDEP (3/30, 10 %). Three patients (10 %) died from severe cardiomyopathy, liver failure and gastrointestinal bleeding, respectively. The cause of death was unclassified in nine patients (30 %). Autopsies were rarely performed and the true cause of death remains unknown for the majority of patients.
Our data indicate an increased risk of premature death in patients with PIGA-CDG when compared to most monogenic developmental and epileptic encephalopathies. |
| doi_str_mv | 10.1016/j.eplepsyres.2020.106530 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_2483813941</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><els_id>S0920121120305817</els_id><sourcerecordid>2483813941</sourcerecordid><originalsourceid>FETCH-LOGICAL-c424t-ad56a9556708877ceeb044d49fa1d568ea1513831f99041e2acc00b04652c0363</originalsourceid><addsrcrecordid>eNqFkMlOwzAQQC0EomX5BeQjl5TxksQ5lgIFCQkOcLaMM6WusmE7SL3xD_whX0KqFjhyGmnmzfYIoQwmDFh2sZpgV2EX1h7DhAPfpLNUwB4ZM5XzJFNS7pMxFBwSxhkbkaMQVgCQg5SHZCRECiorxJjMrtC6boneNa80LpF2HmsTe4-0bn00lYtr6hr6eDefJrOrOf36-KTThvZNbKuShtj69Qk5WJgq4OkuHpPnm-un2W1y_zC_m03vEyu5jIkp08wUaZrloFSeW8SX4ZpSFgvDhpJCw1ImlGCLogDJkBtrAQYmS7kFkYljcr6d2_n2rccQde2CxaoyDbZ90FwqoZgoJBtQtUWtb0PwuNCdd7Xxa81AbxTqlf5TqDcK9Vbh0Hq229K_1Fj-Nv44G4DLLYDDr-8OvQ7WYWOxdB5t1GXr_t_yDdkshl0</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2483813941</pqid></control><display><type>article</type><title>Deciphering the premature mortality in PIGA-CDG – An untold story</title><source>MEDLINE</source><source>ScienceDirect Journals (5 years ago - present)</source><creator>Bayat, Allan ; Kløvgaard, Marius ; Johannesen, Katrine M. ; Barakat, Tahsin Stefan ; Kievit, Anneke ; Montomoli, Martino ; Parrini, Elena ; Pietrafusa, Nicola ; Schelhaas, Jurgen ; van Slegtenhorst, Marjon ; Miya, Kazushi ; Guerrini, Renzo ; Tranebjærg, Lisbeth ; Tümer, Zeynep ; Rubboli, Guido ; Møller, Rikke S.</creator><creatorcontrib>Bayat, Allan ; Kløvgaard, Marius ; Johannesen, Katrine M. ; Barakat, Tahsin Stefan ; Kievit, Anneke ; Montomoli, Martino ; Parrini, Elena ; Pietrafusa, Nicola ; Schelhaas, Jurgen ; van Slegtenhorst, Marjon ; Miya, Kazushi ; Guerrini, Renzo ; Tranebjærg, Lisbeth ; Tümer, Zeynep ; Rubboli, Guido ; Møller, Rikke S.</creatorcontrib><description>•Patients with PIGA-CDG have a high risk of early mortality.•Most patients (26/30, 86 %) died before the age of 20 years.•Age at death ranged from 15 days to 48 years of age.•Half of the patients died due to respiratory failure or a possible sudden unexpected death in epilepsy (SUDEP).•Cardiomyopathy was also a cause of death.
Congenital disorder of glycosylation (CDG) due to a defective phosphatidylinositol glycan anchor biosynthesis class A protein (PIGA) is a severe X-linked developmental and epileptic encephalopathy. Seizures are often treatment refractory, and patients have intellectual disability and global developmental delay. Previous reports have suggested that patients with PIGA-CDG have a high risk of premature mortality. This study aimed to evaluate the observed high mortality and the causes of death in PIGA-CDG patients.
We reviewed the literature and collected additional unpublished patients through an international network.
In total, we reviewed the data of 88 patients of whom 30 patients born alive were deceased, and the overall mortality before the age of 20 years was 30 % (26/88). Age at death ranged from 15 days to 48 years of life. The median age at death was two years and more than half of the patients deceased in early childhood. The PIGA-specific mortality rate/1000 person-years was 44.9/1000 person-years (95 %, CI 31.4–64.3). There were no cases of definite or probable sudden unexpected death in epilepsy (SUDEP) and half of the patients died due to respiratory failure (15/30, 50 %) or possible SUDEP (3/30, 10 %). Three patients (10 %) died from severe cardiomyopathy, liver failure and gastrointestinal bleeding, respectively. The cause of death was unclassified in nine patients (30 %). Autopsies were rarely performed and the true cause of death remains unknown for the majority of patients.
Our data indicate an increased risk of premature death in patients with PIGA-CDG when compared to most monogenic developmental and epileptic encephalopathies.</description><identifier>ISSN: 0920-1211</identifier><identifier>EISSN: 1872-6844</identifier><identifier>DOI: 10.1016/j.eplepsyres.2020.106530</identifier><identifier>PMID: 33508693</identifier><language>eng</language><publisher>Netherlands: Elsevier B.V</publisher><subject>Adolescent ; Adult ; Cardiomyopathy ; Child, Preschool ; Early cardiopulmonary death ; Early infantile epileptic encephalopathy ; Glycosylphosphatidylinositol biosynthesis defects ; Humans ; Intellectual Disability ; Middle Aged ; Mortality ; Mortality, Premature ; PIGA ; Seizures ; Sudden Unexpected Death in Epilepsy ; SUDEP ; Young Adult</subject><ispartof>Epilepsy research, 2021-02, Vol.170, p.106530-106530, Article 106530</ispartof><rights>2020 Elsevier B.V.</rights><rights>Copyright © 2020 Elsevier B.V. All rights reserved.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c424t-ad56a9556708877ceeb044d49fa1d568ea1513831f99041e2acc00b04652c0363</citedby><cites>FETCH-LOGICAL-c424t-ad56a9556708877ceeb044d49fa1d568ea1513831f99041e2acc00b04652c0363</cites><orcidid>0000-0003-4046-3133 ; 0000-0003-1231-1562 ; 0000-0002-4777-5802 ; 0000-0003-4986-8006</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S0920121120305817$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,776,780,3537,27901,27902,65306</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/33508693$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Bayat, Allan</creatorcontrib><creatorcontrib>Kløvgaard, Marius</creatorcontrib><creatorcontrib>Johannesen, Katrine M.</creatorcontrib><creatorcontrib>Barakat, Tahsin Stefan</creatorcontrib><creatorcontrib>Kievit, Anneke</creatorcontrib><creatorcontrib>Montomoli, Martino</creatorcontrib><creatorcontrib>Parrini, Elena</creatorcontrib><creatorcontrib>Pietrafusa, Nicola</creatorcontrib><creatorcontrib>Schelhaas, Jurgen</creatorcontrib><creatorcontrib>van Slegtenhorst, Marjon</creatorcontrib><creatorcontrib>Miya, Kazushi</creatorcontrib><creatorcontrib>Guerrini, Renzo</creatorcontrib><creatorcontrib>Tranebjærg, Lisbeth</creatorcontrib><creatorcontrib>Tümer, Zeynep</creatorcontrib><creatorcontrib>Rubboli, Guido</creatorcontrib><creatorcontrib>Møller, Rikke S.</creatorcontrib><title>Deciphering the premature mortality in PIGA-CDG – An untold story</title><title>Epilepsy research</title><addtitle>Epilepsy Res</addtitle><description>•Patients with PIGA-CDG have a high risk of early mortality.•Most patients (26/30, 86 %) died before the age of 20 years.•Age at death ranged from 15 days to 48 years of age.•Half of the patients died due to respiratory failure or a possible sudden unexpected death in epilepsy (SUDEP).•Cardiomyopathy was also a cause of death.
Congenital disorder of glycosylation (CDG) due to a defective phosphatidylinositol glycan anchor biosynthesis class A protein (PIGA) is a severe X-linked developmental and epileptic encephalopathy. Seizures are often treatment refractory, and patients have intellectual disability and global developmental delay. Previous reports have suggested that patients with PIGA-CDG have a high risk of premature mortality. This study aimed to evaluate the observed high mortality and the causes of death in PIGA-CDG patients.
We reviewed the literature and collected additional unpublished patients through an international network.
In total, we reviewed the data of 88 patients of whom 30 patients born alive were deceased, and the overall mortality before the age of 20 years was 30 % (26/88). Age at death ranged from 15 days to 48 years of life. The median age at death was two years and more than half of the patients deceased in early childhood. The PIGA-specific mortality rate/1000 person-years was 44.9/1000 person-years (95 %, CI 31.4–64.3). There were no cases of definite or probable sudden unexpected death in epilepsy (SUDEP) and half of the patients died due to respiratory failure (15/30, 50 %) or possible SUDEP (3/30, 10 %). Three patients (10 %) died from severe cardiomyopathy, liver failure and gastrointestinal bleeding, respectively. The cause of death was unclassified in nine patients (30 %). Autopsies were rarely performed and the true cause of death remains unknown for the majority of patients.
Our data indicate an increased risk of premature death in patients with PIGA-CDG when compared to most monogenic developmental and epileptic encephalopathies.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Cardiomyopathy</subject><subject>Child, Preschool</subject><subject>Early cardiopulmonary death</subject><subject>Early infantile epileptic encephalopathy</subject><subject>Glycosylphosphatidylinositol biosynthesis defects</subject><subject>Humans</subject><subject>Intellectual Disability</subject><subject>Middle Aged</subject><subject>Mortality</subject><subject>Mortality, Premature</subject><subject>PIGA</subject><subject>Seizures</subject><subject>Sudden Unexpected Death in Epilepsy</subject><subject>SUDEP</subject><subject>Young Adult</subject><issn>0920-1211</issn><issn>1872-6844</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2021</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkMlOwzAQQC0EomX5BeQjl5TxksQ5lgIFCQkOcLaMM6WusmE7SL3xD_whX0KqFjhyGmnmzfYIoQwmDFh2sZpgV2EX1h7DhAPfpLNUwB4ZM5XzJFNS7pMxFBwSxhkbkaMQVgCQg5SHZCRECiorxJjMrtC6boneNa80LpF2HmsTe4-0bn00lYtr6hr6eDefJrOrOf36-KTThvZNbKuShtj69Qk5WJgq4OkuHpPnm-un2W1y_zC_m03vEyu5jIkp08wUaZrloFSeW8SX4ZpSFgvDhpJCw1ImlGCLogDJkBtrAQYmS7kFkYljcr6d2_n2rccQde2CxaoyDbZ90FwqoZgoJBtQtUWtb0PwuNCdd7Xxa81AbxTqlf5TqDcK9Vbh0Hq229K_1Fj-Nv44G4DLLYDDr-8OvQ7WYWOxdB5t1GXr_t_yDdkshl0</recordid><startdate>202102</startdate><enddate>202102</enddate><creator>Bayat, Allan</creator><creator>Kløvgaard, Marius</creator><creator>Johannesen, Katrine M.</creator><creator>Barakat, Tahsin Stefan</creator><creator>Kievit, Anneke</creator><creator>Montomoli, Martino</creator><creator>Parrini, Elena</creator><creator>Pietrafusa, Nicola</creator><creator>Schelhaas, Jurgen</creator><creator>van Slegtenhorst, Marjon</creator><creator>Miya, Kazushi</creator><creator>Guerrini, Renzo</creator><creator>Tranebjærg, Lisbeth</creator><creator>Tümer, Zeynep</creator><creator>Rubboli, Guido</creator><creator>Møller, Rikke S.</creator><general>Elsevier B.V</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0003-4046-3133</orcidid><orcidid>https://orcid.org/0000-0003-1231-1562</orcidid><orcidid>https://orcid.org/0000-0002-4777-5802</orcidid><orcidid>https://orcid.org/0000-0003-4986-8006</orcidid></search><sort><creationdate>202102</creationdate><title>Deciphering the premature mortality in PIGA-CDG – An untold story</title><author>Bayat, Allan ; Kløvgaard, Marius ; Johannesen, Katrine M. ; Barakat, Tahsin Stefan ; Kievit, Anneke ; Montomoli, Martino ; Parrini, Elena ; Pietrafusa, Nicola ; Schelhaas, Jurgen ; van Slegtenhorst, Marjon ; Miya, Kazushi ; Guerrini, Renzo ; Tranebjærg, Lisbeth ; Tümer, Zeynep ; Rubboli, Guido ; Møller, Rikke S.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c424t-ad56a9556708877ceeb044d49fa1d568ea1513831f99041e2acc00b04652c0363</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2021</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Cardiomyopathy</topic><topic>Child, Preschool</topic><topic>Early cardiopulmonary death</topic><topic>Early infantile epileptic encephalopathy</topic><topic>Glycosylphosphatidylinositol biosynthesis defects</topic><topic>Humans</topic><topic>Intellectual Disability</topic><topic>Middle Aged</topic><topic>Mortality</topic><topic>Mortality, Premature</topic><topic>PIGA</topic><topic>Seizures</topic><topic>Sudden Unexpected Death in Epilepsy</topic><topic>SUDEP</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Bayat, Allan</creatorcontrib><creatorcontrib>Kløvgaard, Marius</creatorcontrib><creatorcontrib>Johannesen, Katrine M.</creatorcontrib><creatorcontrib>Barakat, Tahsin Stefan</creatorcontrib><creatorcontrib>Kievit, Anneke</creatorcontrib><creatorcontrib>Montomoli, Martino</creatorcontrib><creatorcontrib>Parrini, Elena</creatorcontrib><creatorcontrib>Pietrafusa, Nicola</creatorcontrib><creatorcontrib>Schelhaas, Jurgen</creatorcontrib><creatorcontrib>van Slegtenhorst, Marjon</creatorcontrib><creatorcontrib>Miya, Kazushi</creatorcontrib><creatorcontrib>Guerrini, Renzo</creatorcontrib><creatorcontrib>Tranebjærg, Lisbeth</creatorcontrib><creatorcontrib>Tümer, Zeynep</creatorcontrib><creatorcontrib>Rubboli, Guido</creatorcontrib><creatorcontrib>Møller, Rikke S.</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Epilepsy research</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Bayat, Allan</au><au>Kløvgaard, Marius</au><au>Johannesen, Katrine M.</au><au>Barakat, Tahsin Stefan</au><au>Kievit, Anneke</au><au>Montomoli, Martino</au><au>Parrini, Elena</au><au>Pietrafusa, Nicola</au><au>Schelhaas, Jurgen</au><au>van Slegtenhorst, Marjon</au><au>Miya, Kazushi</au><au>Guerrini, Renzo</au><au>Tranebjærg, Lisbeth</au><au>Tümer, Zeynep</au><au>Rubboli, Guido</au><au>Møller, Rikke S.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Deciphering the premature mortality in PIGA-CDG – An untold story</atitle><jtitle>Epilepsy research</jtitle><addtitle>Epilepsy Res</addtitle><date>2021-02</date><risdate>2021</risdate><volume>170</volume><spage>106530</spage><epage>106530</epage><pages>106530-106530</pages><artnum>106530</artnum><issn>0920-1211</issn><eissn>1872-6844</eissn><abstract>•Patients with PIGA-CDG have a high risk of early mortality.•Most patients (26/30, 86 %) died before the age of 20 years.•Age at death ranged from 15 days to 48 years of age.•Half of the patients died due to respiratory failure or a possible sudden unexpected death in epilepsy (SUDEP).•Cardiomyopathy was also a cause of death.
Congenital disorder of glycosylation (CDG) due to a defective phosphatidylinositol glycan anchor biosynthesis class A protein (PIGA) is a severe X-linked developmental and epileptic encephalopathy. Seizures are often treatment refractory, and patients have intellectual disability and global developmental delay. Previous reports have suggested that patients with PIGA-CDG have a high risk of premature mortality. This study aimed to evaluate the observed high mortality and the causes of death in PIGA-CDG patients.
We reviewed the literature and collected additional unpublished patients through an international network.
In total, we reviewed the data of 88 patients of whom 30 patients born alive were deceased, and the overall mortality before the age of 20 years was 30 % (26/88). Age at death ranged from 15 days to 48 years of life. The median age at death was two years and more than half of the patients deceased in early childhood. The PIGA-specific mortality rate/1000 person-years was 44.9/1000 person-years (95 %, CI 31.4–64.3). There were no cases of definite or probable sudden unexpected death in epilepsy (SUDEP) and half of the patients died due to respiratory failure (15/30, 50 %) or possible SUDEP (3/30, 10 %). Three patients (10 %) died from severe cardiomyopathy, liver failure and gastrointestinal bleeding, respectively. The cause of death was unclassified in nine patients (30 %). Autopsies were rarely performed and the true cause of death remains unknown for the majority of patients.
Our data indicate an increased risk of premature death in patients with PIGA-CDG when compared to most monogenic developmental and epileptic encephalopathies.</abstract><cop>Netherlands</cop><pub>Elsevier B.V</pub><pmid>33508693</pmid><doi>10.1016/j.eplepsyres.2020.106530</doi><tpages>1</tpages><orcidid>https://orcid.org/0000-0003-4046-3133</orcidid><orcidid>https://orcid.org/0000-0003-1231-1562</orcidid><orcidid>https://orcid.org/0000-0002-4777-5802</orcidid><orcidid>https://orcid.org/0000-0003-4986-8006</orcidid><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0920-1211 |
| ispartof | Epilepsy research, 2021-02, Vol.170, p.106530-106530, Article 106530 |
| issn | 0920-1211 1872-6844 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_2483813941 |
| source | MEDLINE; ScienceDirect Journals (5 years ago - present) |
| subjects | Adolescent Adult Cardiomyopathy Child, Preschool Early cardiopulmonary death Early infantile epileptic encephalopathy Glycosylphosphatidylinositol biosynthesis defects Humans Intellectual Disability Middle Aged Mortality Mortality, Premature PIGA Seizures Sudden Unexpected Death in Epilepsy SUDEP Young Adult |
| title | Deciphering the premature mortality in PIGA-CDG – An untold story |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-02-05T01%3A24%3A03IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Deciphering%20the%20premature%20mortality%20in%20PIGA-CDG%20%E2%80%93%20An%20untold%20story&rft.jtitle=Epilepsy%20research&rft.au=Bayat,%20Allan&rft.date=2021-02&rft.volume=170&rft.spage=106530&rft.epage=106530&rft.pages=106530-106530&rft.artnum=106530&rft.issn=0920-1211&rft.eissn=1872-6844&rft_id=info:doi/10.1016/j.eplepsyres.2020.106530&rft_dat=%3Cproquest_cross%3E2483813941%3C/proquest_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=2483813941&rft_id=info:pmid/33508693&rft_els_id=S0920121120305817&rfr_iscdi=true |