Metabolic liver diseases presenting with neonatal cholestasis: at the crossroad between old and new paradigms.
Metabolic liver diseases (MLD) are an important group of disorders presenting with neonatal cholestasis (NC). The spectrum of liver involvement is wide and the presumptive diagnosis is traditionally based on clinical and laboratory findings. Recently, next-generation sequencing (NGS) panels have eme...
| Publicado en: | European Journal of Pediatrics Vol. 178; no. 4; pp. 515 - 524 |
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| Autores principales: | , , , , |
| Formato: | Journal Article |
| Publicado: |
Springer Nature
Apr2019
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=135606142&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 135606142 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 03406199 CR1 jtl: European Journal of Pediatrics issn: 03406199 maglogo: N pubinfo: dt: Apr2019 vid: 178 iid: 4 pid: 237 pub: Springer Nature place: New York, New York artinfo: ui: 135606142 135606142 NLM30693370 10.1007/s00431-019-03328-5 NLM30693370 135606142 ppf: 515 ppct: 9 formats: fmt: – @attributes: type: T – @attributes: type: P tig: atl: Metabolic liver diseases presenting with neonatal cholestasis: at the crossroad between old and new paradigms. aug: au: Moreira-Silva, Helena Maio, Inês Bandeira, Anabela Gomes-Martins, Esmeralda Santos-Silva, Ermelinda affil: Pediatric Gastroenterology Unit, Centro Materno Infantil do Norte – CMIN, Centro Hospitalar Universitário do Porto, Largo da Maternidade de Júlio Dinis, 4050-651, Porto, Portugal sug: subj: Liver Failure, Acute Diagnosis Cholestasis Diagnosis Metabolism, Inborn Errors Diagnosis Sequence Analysis Methods Metabolism, Inborn Errors Complications Male Liver Failure, Acute Complications Female Metabolism, Inborn Errors Classification Infant, Newborn, Diseases Infant, Newborn Retrospective Design Infant Cholestasis Complications Scales Infant, Newborn: birth-1 month Infant: 1-23 months Male Female ab: Metabolic liver diseases (MLD) are an important group of disorders presenting with neonatal cholestasis (NC). The spectrum of liver involvement is wide and the presumptive diagnosis is traditionally based on clinical and laboratory findings. Recently, next-generation sequencing (NGS) panels have emerged as an appealing tool to diagnose neonatal/infantile cholestatic disorders. The aim of this study was to identify clinical phenotypes of liver injury and contribute to find a diagnostic methodology that integrates new molecular diagnostic tools. We retrospectively analyzed the clinical and biochemical features of 16 patients with MLD and NC. Patients were categorized into three groups: A-NC with liver failure (N = 8): tyrosinemia type I (n = 2), classic galactosemia (n = 5), mitochondrial DNA depletion syndrome (n = 1); B-NC evolving with chronic liver disease (N = 5): argininemia (n = 2); mitochondrial cytopathy (n = 1); congenital disorders of glycosylation type Ia (n = 1); Zellweger syndrome (n = 1); and C-transient NC (N = 3): Niemann-Pick type C (n = 2), citrullinemia type II (n = 1).Conclusion: MLD presenting with NC can be categorized into three main clinical phenotypes of liver injury. We highlight transient NC as a clue for MLD that must be pursued. New molecular diagnostic tools can play a key role, but application criteria must be established to make them cost-effective. What is Known: • Metabolic liver diseases are an important group of disorders presenting with neonatal cholestasis. • The diagnostic approach is challenging and traditionally based on clinical and laboratory findings. Next-generation sequencing is a recent and rapidly developing tool in pediatric hepatology. What is New: • We provide a liver-targeted characterization of metabolic liver diseases presenting with neonatal cholestasis, categorizing them into three clinical phenotypes that may narrow the diagnostic possibilities. • A clinical decision-making algorithm is proposed, in which the NGS technology is integrated. pubtype: Academic Journal doctype: Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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