Metabolic liver diseases presenting with neonatal cholestasis: at the crossroad between old and new paradigms

Silva, Helena Moreira; Maio, Inês; Bandeira, Anabela; Martins, Esmeralda; Silva, Ermelinda Santos

doi:10.1007/s00431-019-03328-5

Cited by 12 publications

(8 citation statements)

References 34 publications

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“…From our experience, NGS panel should be used with caution and in selected cohorts. As we recently stated elsewhere (27), we believe that this tool must not be used as first-line, and should definitely not be used in the absence of skilled clinical guidance. Therefore, it does not make sense to talk about a paradigm shift, since any decision algorithm must always have clinical and biochemical markers.…”

Section: Discussionmentioning

confidence: 90%

“…In period A, molecular studies were performed in three patients with galactosemia, one with argininemia ( 29 ), and one with MacCune-Albright syndrome ( 30 ), previously reported. In period B, molecular studies were performed in patients with Alagille syndrome and some metabolic diseases ( 27 ).…”

Section: Resultsmentioning

confidence: 99%

“…In Portugal, we still need to improve on NGS panel availability and turn-around times that allow for diagnosis in a timely manner. We propose its use as previously described by Moreira da Silva et al (27). In clinical practice we do not recommend transient cholestasis patients to be offered NGS panels.…”

Section: Discussionmentioning

confidence: 99%

“…Patients with A1ATD born after 1994 were treated by ursodeoxycholic acid (UDCA), 15-20 mg/kg/day, bid (25). Metabolic diseases were treated with special diets and specific drugs, according to the state of art, which included OLT in some patients (26,27). Pediatric OLT was available in our country since January 1994 (one center); before was only available through foreign centers.…”

Section: Clinical Data Diagnostic Approach and Treatmentmentioning

confidence: 99%

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

et al. 2020

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Introduction: 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 Santos Silva et al. Neonatal Cholestasis Over Time 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. Keywords: neonatal cholestasis, transient cholestasis, neonatal cholestasis epidemiology, cholestasis risk factors, neonatal cholestasis survival, next generation sequencing panel NGS panel evolution Mid-2017 (54 genes) Since the end of 2019 (95 genes) Genes ABCB11,

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Section: Discussionmentioning

confidence: 90%

Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Clinical Data Diagnostic Approach and Treatmentmentioning

confidence: 99%

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

et al. 2020

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“…Gestational and perinatal history are crucial in defining factors associated with some forms of multifactorial, transient cholestasis, such as low birth weight and prematurity, a low Apgar score, sepsis, asphyxia, total parenteral nutrition, history of organ failure [ 1 , 49 ]. Genetic-metabolic causes or congenital infection should be considered in the differential diagnosis in presence of intrauterine growth retardation, fetal hydrops with or without malformations [47] .…”

Section: Medical Historymentioning

confidence: 99%

Diagnostic approach to neonatal and infantile cholestasis: A position paper by the SIGENP liver disease working group

Ranucci

Corte

Alberti

et al. 2022

Digestive and Liver Disease

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Differential Diagnosis of Biliary Atresia

Abukawa

2021

Introduction to Biliary Atresia

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Metabolic liver diseases presenting with neonatal cholestasis: at the crossroad between old and new paradigms

Cited by 12 publications

References 34 publications

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

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

Diagnostic approach to neonatal and infantile cholestasis: A position paper by the SIGENP liver disease working group

Differential Diagnosis of Biliary Atresia

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