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Inborn errors of metabolism in a tertiary pediatric intensive care unit

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dc.contributor.authorLipari Pinto, Patrícia
dc.contributor.authorShchomak, Zakhar
dc.contributor.authorBoto, Leonor
dc.contributor.authorJaneiro, Patrícia
dc.contributor.authorMoldovan, Oana
dc.contributor.authorAbecasis, Francisco
dc.contributor.authorGaspar, Ana
dc.contributor.authorVieira, Marisa
dc.date.accessioned2022-09-09T15:14:02Z
dc.date.available2022-09-09T15:14:02Z
dc.date.issued2020
dc.description© 2020. Thieme. All rights reserved. Georg Thieme Verlag KG,pt_PT
dc.description.abstractFew studies exist describing resources and care of pediatric patients with inborn errors of metabolism (IEM) admitted to pediatric intensive care unit (PICU). This study aims to characterize the PICU admissions of these patients to provide better diagnostic and therapeutic care in the future. Retrospective analysis of pediatric patients with IEM admitted to the PICU of a tertiary care center at a metabolic referral university hospital from 2009 to 2019 was included. Clinical information and demographic data were collected from PICU clinical records. During this period, 2% ( n = 88 admissions, from 65 children) out of 4,459 PICU admissions had clinical features of IEM. The median age was 3 years (range: 3 days-21 years) and 33 were male. Median age at diagnosis was 3 months; 23/65 patients with intoxication disorders, 21/65 with disorders of energy metabolism, 17/65 with disorders of complex molecules, and 4/65 with other metabolic diseases (congenital lipodystrophy, Menkes' disease, hyperammonemia without a diagnosis). From a total of 88 admissions, 62 were due to metabolic decompensation (infection-38, neonatal period decompensation-14, external accident-5, prolonged fasting-2, and therapeutic noncompliance-3) and 26 elective admissions after a scheduled surgery/elective procedure. The most frequent clinical presentations were respiratory failure (30/88) and neurological deterioration (26/88). Mechanical ventilation was required in 30 patients and parenteral nutrition in 6 patients. Extracorporeal removal therapy was required in 16 pediatric patients (12 with maple syrup urine disease and 4 with hyperammonemia) with a median duration of 19 hours. The median length of PICU stay was 3.6 days (3 hours-35 days). Eight patients died during the studied period (cerebral edema-2, massive hemorrhage-5, and malignant arrhythmia-1). Acute decompensation was the main cause of admission in PICU in these patients. The complexity of these diseases requires specialized human and technical resources, with an important impact on the recovery and survival of these patients.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationJ Pediatr Intensive Care. 2020 Dec 15;11(3):183-192pt_PT
dc.identifier.doi10.1055/s-0040-1721738pt_PT
dc.identifier.eissn2146-4626
dc.identifier.issn2146-4618
dc.identifier.urihttp://hdl.handle.net/10451/54424
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherGeorg Thieme Verlag KGpt_PT
dc.relation.publisherversionhttps://www.thieme.in/journal-of-pediatric-intensive-carept_PT
dc.subjectInborn errors of metabolismpt_PT
dc.subjectPediatric intensive care unitpt_PT
dc.subjectReferral centerpt_PT
dc.titleInborn errors of metabolism in a tertiary pediatric intensive care unitpt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage192pt_PT
oaire.citation.issue03pt_PT
oaire.citation.startPage183pt_PT
oaire.citation.titleJournal of Pediatric Intensive Carept_PT
oaire.citation.volume11pt_PT
person.familyNameLipari Pinto
person.familyNameShchomak
person.familyNameBoto
person.familyNameJaneiro
person.familyNameMoldovan
person.familyNameAbecasis
person.familyNameGaspar
person.givenNamePatrícia
person.givenNameZakhar
person.givenNameLeonor
person.givenNamePatrícia
person.givenNameOana
person.givenNameFrancisco
person.givenNameAna
person.identifier2442372
person.identifier.ciencia-idD119-CE31-94F8
person.identifier.ciencia-id941E-1936-53F1
person.identifier.ciencia-id651B-39C2-E8B2
person.identifier.ciencia-id6D12-BB99-BD70
person.identifier.orcid0000-0001-9197-7586
person.identifier.orcid0000-0002-5783-5119
person.identifier.orcid0000-0001-6144-1617
person.identifier.orcid0000-0002-8985-1156
person.identifier.orcid0000-0003-0274-4313
person.identifier.orcid0000-0002-1883-050X
person.identifier.orcid0000-0003-3979-9924
person.identifier.ridD-4488-2013
person.identifier.ridM-1875-2013
person.identifier.scopus-author-id57205711365
person.identifier.scopus-author-id56214005900
rcaap.rightsrestrictedAccesspt_PT
rcaap.typearticlept_PT
relation.isAuthorOfPublicationa442f79f-51dc-4e53-9535-31f16b4d2d46
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relation.isAuthorOfPublication.latestForDiscovery7dfd451e-d183-45ae-97d4-262c489e6050

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