Repository logo
 
Publication

Diagnosis, management, and follow-up of mitochondrial disorders in childhood: a personalized medicine in the new era of genome sequence

2018-12-07Journal article Restricted access
Simple item page
dc.contributor.authorPaiva Coelho, Margarida
dc.contributor.authorMartins, Esmeralda
dc.contributor.authorVilarinho, Laura
dc.date.accessioned2019-03-21T12:17:46Z
dc.date.available2019-03-21T12:17:46Z
dc.date.issued2018-12-07
dc.description.abstractPrimary mitochondrial disorders are highly variable in clinical presentation, biochemistry, and molecular etiology. Mitochondrial disorders can be caused by genetic defects in the mitochondrial, in nuclear genome, or in the interplay between the two genomes. Biochemical screening tests may be inconclusive or misleading since patients, with confirmed mitochondrial disorders specially in pediatric age, may exhibit normal routine biochemistry, muscle histology, or enzymatic analysis of the mitochondrial respiratory chain. Diagnosis is often challenging even with combination of multiple criteria (clinical, biochemical, histological, and functional), as innumerous conditions cause secondary mitochondrial dysfunction. Nowadays, a definite diagnosis is only possible by genetic confirmation since no single score system is satisfactorily accurate, being sensitive but not specific.Conclusion: Awareness between physicians is of major importance considering that clinical suspicion may not be obvious regarding the heterogenicity in presentation and biochemical features of mitochondrial disorders. In this review, we provide information on diagnosis approach to patients suspected for mitochondrial disorders as well as management on chronic and acute settings. Follow-up should provide comprehensive information on patient's status, since intervention on these diseases is mostly supportive and prognosis is variable and sometimes unpredictable. What is Known: • Mitochondrial disorders are heterogenous and may present at any age, with any symptoms and any type of inheritance. • Mitochondrial disorders may be due to pathogenic variants in mitochondrial DNA (mtDNA) or nuclear genes (nDNA). What is New: • Since no single score system is satisfactorily accurate, a definite diagnosis is only possible with genetic studies with gene panels proving to be a cost-effective approach. • Clinical and biochemical features of patients without a confirmed diagnosis must be reviewed and other diagnosis must be considered. A wider genetic approach may be applied (WES or WGS).pt_PT
dc.description.sponsorshipThe customized gene panel referred in this paper was supported by FCT (PTDC/DTP-PIC/2220/2014) and NORTE2020 (NORTE-01-0246-FEDER-000014)pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationEur J Pediatr. 2019 Jan;178(1):21-32. doi: 10.1007/s00431-018-3292-x. Epub 2018 Dec 7. Reviewpt_PT
dc.identifier.doi10.1007/s00431-018-3292-xpt_PT
dc.identifier.issn0340-6199
dc.identifier.urihttp://hdl.handle.net/10400.18/6260
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherSpringerpt_PT
dc.relation.publisherversionhttps://link.springer.com/article/10.1007%2Fs00431-018-3292-xpt_PT
dc.subjectGenetic Diagnosispt_PT
dc.subjectMitochondriapt_PT
dc.subjectMitochondrial Diseasept_PT
dc.subjectRespiratory Chain Deficiencypt_PT
dc.subjectmtDNApt_PT
dc.subjectDNA, Mitochondrialpt_PT
dc.subjectSequence Analysis, DNApt_PT
dc.subjectPrecision Medicinept_PT
dc.subjectChild, Preschoolpt_PT
dc.subjectChildpt_PT
dc.subjectAdolescentpt_PT
dc.subjectAftercarept_PT
dc.subjectDoenças Genéticaspt_PT
dc.titleDiagnosis, management, and follow-up of mitochondrial disorders in childhood: a personalized medicine in the new era of genome sequencept_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage32pt_PT
oaire.citation.issue1pt_PT
oaire.citation.startPage21pt_PT
oaire.citation.titleEuropean Journal of Pediatricspt_PT
oaire.citation.volume178pt_PT
rcaap.embargofctPolítica editorial da revista.pt_PT
rcaap.rightsembargoedAccesspt_PT
rcaap.typearticlept_PT

Files

Original bundle
Now showing 1 - 1 of 1
No Thumbnail Available
Name:
PaivaCoelho2019_Article_DiagnosisManagementAndFollow-u.pdf
Size:
951.14 KB
Format:
Adobe Portable Document Format
Download
License bundle
Now showing 1 - 1 of 1
No Thumbnail Available
Name:
license.txt
Size:
1.71 KB
Format:
Item-specific license agreed upon to submission
Description:
Download

Collections

DGH - Artigos em revistas internacionais