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Neonatal Cholestasis Over Time: Changes in Epidemiology and Outcome in a Cohort of 154 Patients from a Portuguese Tertiary Center

2020-06-30Journal article Open access
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dc.contributor.authorSantos Silva, Ermelinda
dc.contributor.authorAlmeida, Alexandra
dc.contributor.authorFrutuoso, Simão
dc.contributor.authorMartins, Esmeralda
dc.contributor.authorValente, Maria João
dc.contributor.authorSantos-Silva, Alice
dc.contributor.authorLopes, Ana Isabel
dc.date.accessioned2021-12-06T10:55:23Z
dc.date.available2021-12-06T10:55:23Z
dc.date.issued2020-06-30
dc.description.abstractIntroduction: In the last two decades there have been advances in the diagnosis and management of neonatal cholestasis, which may have changed its epidemiology, diagnostic accuracy, outcomes, and survival. Our goal was to characterize these changes over time in our setting. Methods: Retrospective cohort study in a tertiary center, enrolling patients born between January 1985 and October 2019. The cohort was divided into two periods, before (A; n = 67) and after (B; n = 87) the year 2000; and in two groups, according to patient's outcome (favorable, unfavorable). Overall survival and survival with and without orthotopic liver transplant (OLT) were evaluated in the two periods (A and B) and in different subgroups of underlying entities. Results: We found that the age of cholestasis recognition decreased significantly from period A to period B [median 43 days and 22 days, respectively, (p < 0.001)]; the changes in epidemiology were relevant, with a significant decrease in alpha-1-antitrypsin deficiency (p < 0.001) and an increase in transient cholestasis (p = 0.004). A next-generation sequencing (NGS) panel available since mid-2017 was applied to 13 patients with contributory results in 7, but, so far, only in 2 patients led to conclusive diagnosis of underlying entities. The number of cases of idiopathic cholestasis did not vary significantly. Over time there was no significant change in the outcome (p = 0.116). Overall survival and survival without OLT had no significant improvement during the period of observation (in periods A and B, 86 vs. 88%, and 85 vs. 87%, respectively). However, in period B, with OLT we achieved the goal of 100% of survival rate. Conclusions: Our data suggest that transient cholestasis became a very important subset of neonatal cholestasis, requiring specific guidance. The NGS panels can provide important inputs on disease diagnosis but, if applied without strict criteria and expertise, they can open a Pandora's box due to misinterpretation. Despite all the advances in accurate diagnosis and timely management-including early recognition of cholestasis-the improvement in patient outcomes and survival were still not significant.pt_PT
dc.description.sponsorshipThis work was supported by Applied Molecular Biosciences Unit (UCIBIO), which was financed by national funds from FCT/MCTES (UID/MULTI/04378/2019)pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationSantos Silva E, Almeida A, Frutuoso S, et al. Neonatal Cholestasis Over Time: Changes in Epidemiology and Outcome in a Cohort of 154 Patients From a Portuguese Tertiary Center. Front Pediatr. 2020;8:351. doi:10.3389/fped.2020.00351pt_PT
dc.identifier.doi10.3389/fped.2020.00351pt_PT
dc.identifier.issn2296-2360
dc.identifier.urihttp://hdl.handle.net/10400.16/2632
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherFrontiers Mediapt_PT
dc.relationApplied Molecular Biosciences Unit
dc.relation.publisherversionhttps://www.frontiersin.org/articles/10.3389/fped.2020.00351/fullpt_PT
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.subjectcholestasis risk factorspt_PT
dc.subjectneonatal cholestasispt_PT
dc.subjectneonatal cholestasis epidemiologypt_PT
dc.subjectneonatal cholestasis survivalpt_PT
dc.subjectnext generation sequencing panelpt_PT
dc.subjecttransient cholestasispt_PT
dc.titleNeonatal Cholestasis Over Time: Changes in Epidemiology and Outcome in a Cohort of 154 Patients from a Portuguese Tertiary Centerpt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.awardTitleApplied Molecular Biosciences Unit
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/6817 - DCRRNI ID/UID%2FMulti%2F04378%2F2019/PT
oaire.citation.conferencePlaceSwitzerlandpt_PT
oaire.citation.startPage351pt_PT
oaire.citation.titleFrontiers in Pediatricspt_PT
oaire.citation.volume8pt_PT
oaire.fundingStream6817 - DCRRNI ID
person.familyNameSantos Silva
person.familyNameMartins
person.givenNameErmelinda
person.givenNameEsmeralda
person.identifier702094
person.identifier.ciencia-id7010-0876-5066
person.identifier.ciencia-idBF1C-DAE5-FAEA
person.identifier.orcid0000-0002-0987-341X
person.identifier.orcid0000-0002-9247-9391
person.identifier.ridT-2673-2018
person.identifier.scopus-author-id56367330200
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.nameFundação para a Ciência e a Tecnologia
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
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