Primary hyperoxaluria in adults and children: a nationwide cohort highlights a persistent diagnostic delay
Background Primary hyperoxalurias (PH) are extremely rare genetic disorders characterized by clinical heterogeneity. Delay in diagnosing these conditions can have detrimental effects on patient outcomes. The primary objective of this study is to assess the current diagnostic delay for PH. Methods Th...
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| Veröffentlicht in: | Clinical kidney journal 2024-05, Vol.17 (5), p.sfae099-sfae099 |
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| creator | Pszczolinski, Romain Acquaviva, Cécile Berrahal, Insaf Biebuyck, Nathalie Burtey, Stéphane Clabault, Karine Dossier, Claire Guillet, Matthieu Hemery, Floriane Letavernier, Emmanuel Rousset-Rouvière, Caroline Bacchetta, Justine Moulin, Bruno |
| description | Background
Primary hyperoxalurias (PH) are extremely rare genetic disorders characterized by clinical heterogeneity. Delay in diagnosing these conditions can have detrimental effects on patient outcomes. The primary objective of this study is to assess the current diagnostic delay for PH.
Methods
This nationwide, observational and retrospective study included patients who received a genetic diagnosis of PH types 1, 2 and 3 between 1 January 2015 and 31 December 2019. Diagnostic delay was defined as the duration between the onset of symptoms and the time of genetic diagnosis.
Results
A total of 52 patients (34 children and 18 adults) were included in the study, with 40 PH1 (77%), 3 PH2 (6%) and 9 PH3 (17%). At the time of diagnosis, 12 patients (23%) required dialysis. Among the PH1 patients, the predominant symptom at onset in adults was renal colic (79% of cases), whereas symptoms in children were more diverse (renal colic in 17% of cases). The diagnostic delay was significantly shorter in children compared with adults [median (interquartile range)]: 1.2 (0.1–3.0) versus 30 (17–36) years, respectively (P |
| doi_str_mv | 10.1093/ckj/sfae099 |
| format | Article |
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Primary hyperoxalurias (PH) are extremely rare genetic disorders characterized by clinical heterogeneity. Delay in diagnosing these conditions can have detrimental effects on patient outcomes. The primary objective of this study is to assess the current diagnostic delay for PH.
Methods
This nationwide, observational and retrospective study included patients who received a genetic diagnosis of PH types 1, 2 and 3 between 1 January 2015 and 31 December 2019. Diagnostic delay was defined as the duration between the onset of symptoms and the time of genetic diagnosis.
Results
A total of 52 patients (34 children and 18 adults) were included in the study, with 40 PH1 (77%), 3 PH2 (6%) and 9 PH3 (17%). At the time of diagnosis, 12 patients (23%) required dialysis. Among the PH1 patients, the predominant symptom at onset in adults was renal colic (79% of cases), whereas symptoms in children were more diverse (renal colic in 17% of cases). The diagnostic delay was significantly shorter in children compared with adults [median (interquartile range)]: 1.2 (0.1–3.0) versus 30 (17–36) years, respectively (P < .0001). RNA interference was utilized in 23 patients (58%). Five individuals (13%) underwent double liver–kidney transplantation, and five (13%) received isolated kidney transplantation, with lumasiran therapy in four patients. For PH2 and PH3 patients, the diagnostic delay ranges from 0 to 3 years, with renal colic as first symptom in 33% of cases.
Conclusion
This extensive and recent cohort of PH underscores the considerable delay in diagnosing PH, particularly in adults, even in a country with a dedicated organization for enhancing the overall management of rare diseases. These findings reinforce the imperative for increased awareness among relevant specialties regarding the evaluation of urolithiasis.</description><identifier>ISSN: 2048-8505</identifier><identifier>EISSN: 2048-8513</identifier><identifier>DOI: 10.1093/ckj/sfae099</identifier><identifier>PMID: 38737343</identifier><language>eng</language><publisher>England: Oxford University Press</publisher><subject>Biotechnology industry ; Human health and pathology ; Life Sciences ; Liver ; Medical research ; Medicine, Experimental ; Transplantation of organs, tissues, etc ; Urology and Nephrology</subject><ispartof>Clinical kidney journal, 2024-05, Vol.17 (5), p.sfae099-sfae099</ispartof><rights>The Author(s) 2024. Published by Oxford University Press on behalf of the ERA. 2024</rights><rights>The Author(s) 2024. Published by Oxford University Press on behalf of the ERA.</rights><rights>COPYRIGHT 2024 Oxford University Press</rights><rights>Distributed under a Creative Commons Attribution 4.0 International License</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c379t-dbae4e4f4a4fbf376885a2d14ff389d1a9ee400b6b9eaa8ae51029335b9ddf83</cites><orcidid>0000-0002-2207-5754 ; 0000-0003-1813-7884 ; 0000-0003-1328-8923 ; 0000-0001-7918-2879 ; 0000-0002-0578-2529 ; 0000-0001-6772-7165 ; 0000-0002-6053-8975 ; 0000-0002-3828-6847</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>230,315,781,785,865,886,27929,27930</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/38737343$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink><backlink>$$Uhttps://hal.science/hal-04589883$$DView record in HAL$$Hfree_for_read</backlink></links><search><creatorcontrib>Pszczolinski, Romain</creatorcontrib><creatorcontrib>Acquaviva, Cécile</creatorcontrib><creatorcontrib>Berrahal, Insaf</creatorcontrib><creatorcontrib>Biebuyck, Nathalie</creatorcontrib><creatorcontrib>Burtey, Stéphane</creatorcontrib><creatorcontrib>Clabault, Karine</creatorcontrib><creatorcontrib>Dossier, Claire</creatorcontrib><creatorcontrib>Guillet, Matthieu</creatorcontrib><creatorcontrib>Hemery, Floriane</creatorcontrib><creatorcontrib>Letavernier, Emmanuel</creatorcontrib><creatorcontrib>Rousset-Rouvière, Caroline</creatorcontrib><creatorcontrib>Bacchetta, Justine</creatorcontrib><creatorcontrib>Moulin, Bruno</creatorcontrib><title>Primary hyperoxaluria in adults and children: a nationwide cohort highlights a persistent diagnostic delay</title><title>Clinical kidney journal</title><addtitle>Clin Kidney J</addtitle><description>Background
Primary hyperoxalurias (PH) are extremely rare genetic disorders characterized by clinical heterogeneity. Delay in diagnosing these conditions can have detrimental effects on patient outcomes. The primary objective of this study is to assess the current diagnostic delay for PH.
Methods
This nationwide, observational and retrospective study included patients who received a genetic diagnosis of PH types 1, 2 and 3 between 1 January 2015 and 31 December 2019. Diagnostic delay was defined as the duration between the onset of symptoms and the time of genetic diagnosis.
Results
A total of 52 patients (34 children and 18 adults) were included in the study, with 40 PH1 (77%), 3 PH2 (6%) and 9 PH3 (17%). At the time of diagnosis, 12 patients (23%) required dialysis. Among the PH1 patients, the predominant symptom at onset in adults was renal colic (79% of cases), whereas symptoms in children were more diverse (renal colic in 17% of cases). The diagnostic delay was significantly shorter in children compared with adults [median (interquartile range)]: 1.2 (0.1–3.0) versus 30 (17–36) years, respectively (P < .0001). RNA interference was utilized in 23 patients (58%). Five individuals (13%) underwent double liver–kidney transplantation, and five (13%) received isolated kidney transplantation, with lumasiran therapy in four patients. For PH2 and PH3 patients, the diagnostic delay ranges from 0 to 3 years, with renal colic as first symptom in 33% of cases.
Conclusion
This extensive and recent cohort of PH underscores the considerable delay in diagnosing PH, particularly in adults, even in a country with a dedicated organization for enhancing the overall management of rare diseases. These findings reinforce the imperative for increased awareness among relevant specialties regarding the evaluation of urolithiasis.</description><subject>Biotechnology industry</subject><subject>Human health and pathology</subject><subject>Life Sciences</subject><subject>Liver</subject><subject>Medical research</subject><subject>Medicine, Experimental</subject><subject>Transplantation of organs, tissues, etc</subject><subject>Urology and Nephrology</subject><issn>2048-8505</issn><issn>2048-8513</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2024</creationdate><recordtype>article</recordtype><sourceid>TOX</sourceid><recordid>eNp9kdGLEzEQxoMo3nHek-8SEESR3mWb7G5yb-VQTyjow72H2c2km5omNdlV-9-bsrUgiAlhwuQ3HzP5CHlZsZuKKX7bf9veZgvIlHpCLpdMyIWsK_70fGf1BbnOecvKKi9M1M_JBZctb7ngl2T7NbkdpAMdDntM8Rf4KTmgLlAwkx8zhWBoPzhvEoY7CjTA6GL46QzSPg4xjXRwm8GXc4RpEckujxhGahxsQsyj66lBD4cX5JkFn_H6FK_I48cPj_cPi_WXT5_vV-tFz1s1LkwHKFBYAcJ2lreNlDUsTSWs5VKZChSiYKxrOoUAErAMtVSc150yxkp-Rd7NsgN4vZ-n0xGcflit9TFXvkAqKfmPqrBvZ3af4vcJ86h3LvfoPQSMU9ac1UJw1jasoK9ndAMetQs2jgn6I65XrZK8apqKF-rmH1TZBneujwGtK_m_Ct7PBX2KOSe055Yrpo8O6-KwPjlc6Fenfqduh-bM_vGzAG9mIE77_yr9Bjlsr40</recordid><startdate>202405</startdate><enddate>202405</enddate><creator>Pszczolinski, Romain</creator><creator>Acquaviva, Cécile</creator><creator>Berrahal, Insaf</creator><creator>Biebuyck, Nathalie</creator><creator>Burtey, Stéphane</creator><creator>Clabault, Karine</creator><creator>Dossier, Claire</creator><creator>Guillet, Matthieu</creator><creator>Hemery, Floriane</creator><creator>Letavernier, Emmanuel</creator><creator>Rousset-Rouvière, Caroline</creator><creator>Bacchetta, Justine</creator><creator>Moulin, Bruno</creator><general>Oxford University Press</general><scope>TOX</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope><scope>1XC</scope><orcidid>https://orcid.org/0000-0002-2207-5754</orcidid><orcidid>https://orcid.org/0000-0003-1813-7884</orcidid><orcidid>https://orcid.org/0000-0003-1328-8923</orcidid><orcidid>https://orcid.org/0000-0001-7918-2879</orcidid><orcidid>https://orcid.org/0000-0002-0578-2529</orcidid><orcidid>https://orcid.org/0000-0001-6772-7165</orcidid><orcidid>https://orcid.org/0000-0002-6053-8975</orcidid><orcidid>https://orcid.org/0000-0002-3828-6847</orcidid></search><sort><creationdate>202405</creationdate><title>Primary hyperoxaluria in adults and children: a nationwide cohort highlights a persistent diagnostic delay</title><author>Pszczolinski, Romain ; Acquaviva, Cécile ; Berrahal, Insaf ; Biebuyck, Nathalie ; Burtey, Stéphane ; Clabault, Karine ; Dossier, Claire ; Guillet, Matthieu ; Hemery, Floriane ; Letavernier, Emmanuel ; Rousset-Rouvière, Caroline ; Bacchetta, Justine ; Moulin, Bruno</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c379t-dbae4e4f4a4fbf376885a2d14ff389d1a9ee400b6b9eaa8ae51029335b9ddf83</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2024</creationdate><topic>Biotechnology industry</topic><topic>Human health and pathology</topic><topic>Life Sciences</topic><topic>Liver</topic><topic>Medical research</topic><topic>Medicine, Experimental</topic><topic>Transplantation of organs, tissues, etc</topic><topic>Urology and Nephrology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Pszczolinski, Romain</creatorcontrib><creatorcontrib>Acquaviva, Cécile</creatorcontrib><creatorcontrib>Berrahal, Insaf</creatorcontrib><creatorcontrib>Biebuyck, Nathalie</creatorcontrib><creatorcontrib>Burtey, Stéphane</creatorcontrib><creatorcontrib>Clabault, Karine</creatorcontrib><creatorcontrib>Dossier, Claire</creatorcontrib><creatorcontrib>Guillet, Matthieu</creatorcontrib><creatorcontrib>Hemery, Floriane</creatorcontrib><creatorcontrib>Letavernier, Emmanuel</creatorcontrib><creatorcontrib>Rousset-Rouvière, Caroline</creatorcontrib><creatorcontrib>Bacchetta, Justine</creatorcontrib><creatorcontrib>Moulin, Bruno</creatorcontrib><collection>Oxford Journals Open Access Collection</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><collection>Hyper Article en Ligne (HAL)</collection><jtitle>Clinical kidney journal</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Pszczolinski, Romain</au><au>Acquaviva, Cécile</au><au>Berrahal, Insaf</au><au>Biebuyck, Nathalie</au><au>Burtey, Stéphane</au><au>Clabault, Karine</au><au>Dossier, Claire</au><au>Guillet, Matthieu</au><au>Hemery, Floriane</au><au>Letavernier, Emmanuel</au><au>Rousset-Rouvière, Caroline</au><au>Bacchetta, Justine</au><au>Moulin, Bruno</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Primary hyperoxaluria in adults and children: a nationwide cohort highlights a persistent diagnostic delay</atitle><jtitle>Clinical kidney journal</jtitle><addtitle>Clin Kidney J</addtitle><date>2024-05</date><risdate>2024</risdate><volume>17</volume><issue>5</issue><spage>sfae099</spage><epage>sfae099</epage><pages>sfae099-sfae099</pages><issn>2048-8505</issn><eissn>2048-8513</eissn><abstract>Background
Primary hyperoxalurias (PH) are extremely rare genetic disorders characterized by clinical heterogeneity. Delay in diagnosing these conditions can have detrimental effects on patient outcomes. The primary objective of this study is to assess the current diagnostic delay for PH.
Methods
This nationwide, observational and retrospective study included patients who received a genetic diagnosis of PH types 1, 2 and 3 between 1 January 2015 and 31 December 2019. Diagnostic delay was defined as the duration between the onset of symptoms and the time of genetic diagnosis.
Results
A total of 52 patients (34 children and 18 adults) were included in the study, with 40 PH1 (77%), 3 PH2 (6%) and 9 PH3 (17%). At the time of diagnosis, 12 patients (23%) required dialysis. Among the PH1 patients, the predominant symptom at onset in adults was renal colic (79% of cases), whereas symptoms in children were more diverse (renal colic in 17% of cases). The diagnostic delay was significantly shorter in children compared with adults [median (interquartile range)]: 1.2 (0.1–3.0) versus 30 (17–36) years, respectively (P < .0001). RNA interference was utilized in 23 patients (58%). Five individuals (13%) underwent double liver–kidney transplantation, and five (13%) received isolated kidney transplantation, with lumasiran therapy in four patients. For PH2 and PH3 patients, the diagnostic delay ranges from 0 to 3 years, with renal colic as first symptom in 33% of cases.
Conclusion
This extensive and recent cohort of PH underscores the considerable delay in diagnosing PH, particularly in adults, even in a country with a dedicated organization for enhancing the overall management of rare diseases. These findings reinforce the imperative for increased awareness among relevant specialties regarding the evaluation of urolithiasis.</abstract><cop>England</cop><pub>Oxford University Press</pub><pmid>38737343</pmid><doi>10.1093/ckj/sfae099</doi><orcidid>https://orcid.org/0000-0002-2207-5754</orcidid><orcidid>https://orcid.org/0000-0003-1813-7884</orcidid><orcidid>https://orcid.org/0000-0003-1328-8923</orcidid><orcidid>https://orcid.org/0000-0001-7918-2879</orcidid><orcidid>https://orcid.org/0000-0002-0578-2529</orcidid><orcidid>https://orcid.org/0000-0001-6772-7165</orcidid><orcidid>https://orcid.org/0000-0002-6053-8975</orcidid><orcidid>https://orcid.org/0000-0002-3828-6847</orcidid><oa>free_for_read</oa></addata></record> |
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| source | DOAJ Directory of Open Access Journals; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; Oxford Journals Open Access Collection; PubMed Central |
| subjects | Biotechnology industry Human health and pathology Life Sciences Liver Medical research Medicine, Experimental Transplantation of organs, tissues, etc Urology and Nephrology |
| title | Primary hyperoxaluria in adults and children: a nationwide cohort highlights a persistent diagnostic delay |
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