Abstract
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 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.
Highlights
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
New underlying entities have been added to the long list of etiological causes of neonatal cholestasis (NC) [3] requiring specialized diagnostic tools and clinical expertise [8]
We studied the 7 subgroups of underlying entities of our cohort [biliary diseases, alpha-1-antitrypsin deficiency (A1ATD), infectious diseases, metabolic diseases, transient cholestasis, other diseases, idiopathic cholestasis]
Summary
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. The diagnosis is difficult due to the great diversity of underlying entities, some of them with specific treatment that should be offered in a timely manner to improve prognosis. In the last two decades, diagnosis and management has improved, which may have had a significant impact in epidemiology and outcome of NC [5,6,7]. New underlying entities have been added to the long list of etiological causes of NC [3] requiring specialized diagnostic tools and clinical expertise [8]. The recent advances in understanding the pathophysiology of NC has not yet fully translated into new treatments or prevention strategies [10]
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