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Diagnostics
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Pediatric Cholestatic Liver Disorders
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Pediatric Cholestatic Liver Disorders

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".

Deadline for manuscript submissions: closed (20 December 2022) | Viewed by 4447

Special Issue Editors

Prof. Dr. Søren Møller

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Guest Editor
1. Department of Clinical Physiology and Nuclear Medicine, Centre for Functional and Diagnostic Imaging and Research, Hvidovre Hospital, Hvidovre, Denmark
2. Department of Clinical Medicine, Faculty of Health Sciences, University of Copenhagen, Hvidovre, Denmark
Interests: clinical physiology; nuclear medicine; cirrhosis; portal hypertension; liver function; cirrhotic cardiomyopathy; cardiac function; heart failure; bioactive substances; kinetics
Special Issues, Collections and Topics in MDPI journals
Dr. Patryk Lipiński

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Guest Editor
Department of Pediatrics, Nutrition and Metabolic Diseases, The Children’s Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland
Interests: inborn errors of metabolism (IEM); lysosomal storage disorders (LSD); congenital disorders of glycosylation (CDG); liver monogenic diseases; next-generation sequencing (NGS)
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Diagnostics would like to launch a special issue running this year, focused on Pediatric Cholestatic Liver Disorders.


Cholestatic liver diseases are a significant cause of morbidity and mortality and the leading indication for pediatric liver transplantation. New genetic causes of cholestasis are being discovered as a result of the wide availability of next-generation sequencing-based (NGS) genetic testing. Among the NGS strategies, the use of targeted gene panels (TGP) has proven useful to rapidly and reliably confirm a clinical suspicion, whereas the whole exome sequencing (WES) has been adopted to assist the diagnostic workup in unclear clinical scenarios. Identification of new genes involved in bile homeostasis will lead to a better understanding of the mechanisms of cholestasis, and the development of new therapies. However, our knowledge regarding the natural history and clinical outcome of cholestatic liver diseases is unfortunately still limited.

 

This topic has become a center of interest for scientists, biochemists, geneticists, and above all, pediatricians.

On behalf of the Editorial office, I would like to invite you to contribute your research paper, review article, interesting case reports, and descriptions of diagnostic methods as well as medical management for peer review and possible publication.

Young researchers are welcome to present their achievements, and pediatricians to share their experience and insights from their clinical practice. All are invited to present new genetic causes of cholestatic liver disorders. We encourage researchers to describe the advantages of new diagnostic methods as well as the pitfalls of common diagnostic methods of cholestatic liver disorders. Also, reports of long-term follow-ups of these patients, as well as their management and care ensured by multidisciplinary teams of physicians and other health providers, will be appreciated.

Dr. Patryk Lipiński
Prof. Dr. Søren Møller
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Diagnostics is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • bile
  • cholestasis
  • next-generation sequencing
  • progressive familial intrahepatic cholestasis
  • liver transplantation

Published Papers (2 papers)

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17 pages, 331 KiB  
Article
Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis
by Marion Almes, Anne Spraul, Mathias Ruiz, Muriel Girard, Bertrand Roquelaure, Nolwenn Laborde, Fréderic Gottrand, Anne Turquet, Thierry Lamireau, Alain Dabadie, Marjorie Bonneton, Alice Thebaut, Babara Rohmer, Florence Lacaille, Pierre Broué, Alexandre Fabre, Karine Mention-Mulliez, Jérôme Bouligand, Emmanuel Jacquemin and Emmanuel Gonzales
Diagnostics 2022, 12(5), 1169; https://doi.org/10.3390/diagnostics12051169 - 07 May 2022
Cited by 6 | Viewed by 1880
Abstract
Background: Cholestasis is a frequent and severe condition during childhood. Genetic cholestatic diseases represent up to 25% of pediatric cholestasis. Molecular analysis by targeted-capture next generation sequencing (NGS) has recently emerged as an efficient diagnostic tool. The objective of this study is to [...] Read more.
Background: Cholestasis is a frequent and severe condition during childhood. Genetic cholestatic diseases represent up to 25% of pediatric cholestasis. Molecular analysis by targeted-capture next generation sequencing (NGS) has recently emerged as an efficient diagnostic tool. The objective of this study is to evaluate the use of NGS in children with cholestasis. Methods: Children presenting cholestasis were included between 2015 and 2020. Molecular sequencing was performed by targeted capture of a panel of 34 genes involved in cholestasis and jaundice. Patients were classified into three categories: certain diagnosis; suggested diagnosis (when genotype was consistent with phenotype for conditions without any available OMIM or ORPHANET-number); uncertain diagnosis (when clinical and para-clinical findings were not consistent enough with molecular findings). Results: A certain diagnosis was established in 169 patients among the 602 included (28.1%). Molecular studies led to a suggested diagnosis in 40 patients (6.6%) and to an uncertain diagnosis in 21 patients (3.5%). In 372 children (61.7%), no molecular defect was identified. Conclusions: NGS is a useful diagnostic tool in pediatric cholestasis, providing a certain diagnosis in 28.1% of the patients included in this study. In the remaining patients, especially those with variants of uncertain significance, the imputability of the variants requires further investigations. Full article
(This article belongs to the Special Issue Pediatric Cholestatic Liver Disorders)

Other

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7 pages, 1546 KiB  
Brief Report
Two Novel Mutations in the JAG1 Gene in Pediatric Patients with Alagille Syndrome: The First Case Series in Czech Republic
by Dagmar Procházková, Romana Borská, Lenka Fajkusová, Petra Konečná, Eliška Hloušková, Zdeněk Pavlovský, Ondřej Slabý and Šárka Pospíšilová
Diagnostics 2021, 11(6), 983; https://doi.org/10.3390/diagnostics11060983 - 28 May 2021
Cited by 2 | Viewed by 1919
Abstract
Background: Alagille syndrome (ALGS) is a highly variable multisystem disorder inherited in an autosomal dominant pattern with incomplete penetration. The disorder is caused by mutations in the JAG1 gene, only rarely in the NOTCH2 gene, which gives rise to malformations in multiple organs. [...] Read more.
Background: Alagille syndrome (ALGS) is a highly variable multisystem disorder inherited in an autosomal dominant pattern with incomplete penetration. The disorder is caused by mutations in the JAG1 gene, only rarely in the NOTCH2 gene, which gives rise to malformations in multiple organs. Bile duct paucity is the main characteristic feature of the disease. Methods: Molecular-genetic examination of genes JAG1 and NOTCH2 in four probands of Czech origin who complied with the diagnostic criteria of ALGS was performed using targeted next-generation sequencing of genes JAG1 and NOTCH2. Segregation of variants in a family was assessed by Sanger sequencing of parental DNA. Results: Mutations in the JAG1 gene were confirmed in all four probands. We identified two novel mutations: c.3189dupG and c.1913delG. Only in one case, the identified JAG1 mutation was de novo. None of the parents carrying JAG1 pathogenic mutation was diagnosed with ALGS. Conclusion: Diagnosis of the ALGS is complicated due to the absence of clear genotype-phenotype correlations and the extreme phenotypic variability in the patients even within the same family. This fact is of particular importance in connection to genetic counselling and prenatal genetic testing. Full article
(This article belongs to the Special Issue Pediatric Cholestatic Liver Disorders)
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