The Role of Next Generation Sequencing in the Differential Diagnosis of Caroli’s Syndrome

We report the case of a 41-year-old man on conservative treatment for more than 20 years for chronic renal insufficiency, chronic hepatitis and recurrent cholangitis. Following lengthy and extensive diagnostics, the differential diagnosis included primary sclerosing cholangitis and Caroli’s disease...

Descripción completa

Detalles Bibliográficos
Autores principales: Smolović, B, Muhović, D, Hodžić, A, Bergant, G, Peterlin, B
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sciendo 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454240/
https://www.ncbi.nlm.nih.gov/pubmed/30984525
http://dx.doi.org/10.2478/bjmg-2018-0027
_version_ 1783409536809304064
author Smolović, B
Muhović, D
Hodžić, A
Bergant, G
Peterlin, B
author_facet Smolović, B
Muhović, D
Hodžić, A
Bergant, G
Peterlin, B
author_sort Smolović, B
collection PubMed
description We report the case of a 41-year-old man on conservative treatment for more than 20 years for chronic renal insufficiency, chronic hepatitis and recurrent cholangitis. Following lengthy and extensive diagnostics, the differential diagnosis included primary sclerosing cholangitis and Caroli’s disease (CD). To solve the diagnostic challenge, next generation sequencing (NGS) was performed to distinguish between the disorders possibly present in the patient. The diagnosis of CD became evident after two rare known pathogenic mutations were detected in the poly-ductin 1 (PKHD1) gene, c.370C>T (p.Arg124Ter) and c.4870C>T (p.Arg1624Trp). In this case, NGS was instrumental in solving the diagnostic challenge, allowing differentiation among the proposed genetic and non-genetic ethiologies.
format Online
Article
Text
id pubmed-6454240
institution National Center for Biotechnology Information
language English
publishDate 2018
publisher Sciendo
record_format MEDLINE/PubMed
spelling pubmed-64542402019-04-12 The Role of Next Generation Sequencing in the Differential Diagnosis of Caroli’s Syndrome Smolović, B Muhović, D Hodžić, A Bergant, G Peterlin, B Balkan J Med Genet Case Report We report the case of a 41-year-old man on conservative treatment for more than 20 years for chronic renal insufficiency, chronic hepatitis and recurrent cholangitis. Following lengthy and extensive diagnostics, the differential diagnosis included primary sclerosing cholangitis and Caroli’s disease (CD). To solve the diagnostic challenge, next generation sequencing (NGS) was performed to distinguish between the disorders possibly present in the patient. The diagnosis of CD became evident after two rare known pathogenic mutations were detected in the poly-ductin 1 (PKHD1) gene, c.370C>T (p.Arg124Ter) and c.4870C>T (p.Arg1624Trp). In this case, NGS was instrumental in solving the diagnostic challenge, allowing differentiation among the proposed genetic and non-genetic ethiologies. Sciendo 2018-12-31 /pmc/articles/PMC6454240/ /pubmed/30984525 http://dx.doi.org/10.2478/bjmg-2018-0027 Text en © 2018 Smolović B, Muhović D, Hodžić A, Bergant G, Peterlin B, published by Sciendo http://creativecommons.org/licenses/by-nc-nd/3.0 This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.
spellingShingle Case Report
Smolović, B
Muhović, D
Hodžić, A
Bergant, G
Peterlin, B
The Role of Next Generation Sequencing in the Differential Diagnosis of Caroli’s Syndrome
title The Role of Next Generation Sequencing in the Differential Diagnosis of Caroli’s Syndrome
title_full The Role of Next Generation Sequencing in the Differential Diagnosis of Caroli’s Syndrome
title_fullStr The Role of Next Generation Sequencing in the Differential Diagnosis of Caroli’s Syndrome
title_full_unstemmed The Role of Next Generation Sequencing in the Differential Diagnosis of Caroli’s Syndrome
title_short The Role of Next Generation Sequencing in the Differential Diagnosis of Caroli’s Syndrome
title_sort role of next generation sequencing in the differential diagnosis of caroli’s syndrome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454240/
https://www.ncbi.nlm.nih.gov/pubmed/30984525
http://dx.doi.org/10.2478/bjmg-2018-0027
work_keys_str_mv AT smolovicb theroleofnextgenerationsequencinginthedifferentialdiagnosisofcarolissyndrome
AT muhovicd theroleofnextgenerationsequencinginthedifferentialdiagnosisofcarolissyndrome
AT hodzica theroleofnextgenerationsequencinginthedifferentialdiagnosisofcarolissyndrome
AT bergantg theroleofnextgenerationsequencinginthedifferentialdiagnosisofcarolissyndrome
AT peterlinb theroleofnextgenerationsequencinginthedifferentialdiagnosisofcarolissyndrome
AT smolovicb roleofnextgenerationsequencinginthedifferentialdiagnosisofcarolissyndrome
AT muhovicd roleofnextgenerationsequencinginthedifferentialdiagnosisofcarolissyndrome
AT hodzica roleofnextgenerationsequencinginthedifferentialdiagnosisofcarolissyndrome
AT bergantg roleofnextgenerationsequencinginthedifferentialdiagnosisofcarolissyndrome
AT peterlinb roleofnextgenerationsequencinginthedifferentialdiagnosisofcarolissyndrome

Ejemplares similares