Department of Pediatrics, Children's Hospital Santobono-Pausilipon, 80129, Naples, Italy.
Pediatrics Section, University of Salerno -Baronissi Campus - Department of Medicine, Surgery and Dentistry, Scuola Medica Salernitana, 84081, Baronissi, Salerno, Italy.
Ital J Pediatr. 2019 Jul 17;45(1):83. doi: 10.1186/s13052-019-0679-x.
Clinical diagnosis of neonatal cholestasis is considered to be an extremely challenging process. Here we highlight the importance not only of the prompt distinction between extrahepatic and intrahepatic cholestasis forms, but also of the precise identification of the latter ones amongst the hotchpotch of recently discovered metabolic/genetic causes. Biliary atresia is considered a surgical emergency in a newborn infant. The rate of success in establishing the bile drainage is in fact a function of the early age when the hepato-portoenterostomy intervention is performed. Intrahepatic cholestasis is due to a broad and more and more puzzling variety of infectious, endocrine, genetic, metabolic and toxic disorders where Gamma-glutamyl transpeptidase serum levels may help for differential diagnosis. Recently established laboratory diagnostic techniques have allowed to discover new causes of neonatal cholestasis. Aim of the Commentary is to go through some of them and bring the focus particularly on the information deriving from the paper by Pinon et al. in this issue of the Journal, which paves the way to the inclusion of the hepatocyte nuclear factor-1-beta deficiency as a new condition to consider in the diagnostic process of the syndromic forms with paucity of intralobular bile ducts.
Neonatal cholestasis poses diagnostic challenges in practice. Recent advances in the pathophysiology and in molecular genetics together with clinical features, histopathologic findings and careful reasoning remains paramount to put together the pieces of the jigsaw.
新生儿胆汁淤积症的临床诊断被认为是一个极具挑战性的过程。在这里，我们不仅强调了及时区分肝外和肝内胆汁淤积症形式的重要性，还强调了在最近发现的代谢/遗传病因的混杂中准确识别后者的重要性。先天性胆道闭锁被认为是新生儿的一种紧急手术情况。事实上，建立胆汁引流的成功率是手术干预时的年龄因素的函数。肝内胆汁淤积症是由广泛而越来越令人困惑的各种感染、内分泌、遗传、代谢和毒性紊乱引起的，其中 γ-谷氨酰转肽酶血清水平可能有助于鉴别诊断。最近建立的实验室诊断技术已经发现了新生儿胆汁淤积症的新病因。评论的目的是通过其中的一些来了解，特别是关注本期杂志上 Pinon 等人的论文所提供的信息，该论文为将肝细胞核因子-1-β缺乏症纳入以小叶内胆管稀少为特征的综合征形式的诊断过程铺平了道路。
新生儿胆汁淤积症在实践中提出了诊断挑战。生理病理和分子遗传学的最新进展，以及临床特征、组织病理学发现和仔细的推理，仍然是将拼图的各个部分组合在一起的关键。
