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...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Sciendo
2018-12-01
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| Series: | Balkan Journal of Medical Genetics |
| Subjects: | |
| Online Access: | https://doi.org/10.2478/bjmg-2018-0027 |
| _version_ | 1797760927426150400 |
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| 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 | DOAJ |
| 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. |
| first_indexed | 2024-03-12T19:05:35Z |
| format | Article |
| id | doaj.art-c737a6688e274114942f74ccf6ebe2c8 |
| institution | Directory Open Access Journal |
| issn | 1311-0160 |
| language | English |
| last_indexed | 2024-03-12T19:05:35Z |
| publishDate | 2018-12-01 |
| publisher | Sciendo |
| record_format | Article |
| series | Balkan Journal of Medical Genetics |
| spelling | doaj.art-c737a6688e274114942f74ccf6ebe2c82023-08-02T06:19:01ZengSciendoBalkan Journal of Medical Genetics1311-01602018-12-01212495310.2478/bjmg-2018-0027bjmg-2018-0027The role of next generation sequencing in the differential diagnosis of caroli’s syndromeSmolović B0Muhović D1Hodžić A2Bergant G3Peterlin B4Internal Clinic, Department of Gastroenterohepatology, Clinical Centre of Montenegro, Podgorica, MontenegroInternal Clinic, Department of Gastroenterohepatology, Clinical Centre of Montenegro, Podgorica, MontenegroClinical Institute of Medical Genetics, University Medical Centre Ljubljana, Ljubljana, SloveniaClinical Institute of Medical Genetics, University Medical Centre Ljubljana, Ljubljana, SloveniaClinical Institute of Medical Genetics, University Medical Centre Ljubljana, Ljubljana, SloveniaWe 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.https://doi.org/10.2478/bjmg-2018-0027caroli’s syndrome (cs)polyductin 1 (pkhd1) genepolycystic kidney disease |
| spellingShingle | Smolović B Muhović D Hodžić A Bergant G Peterlin B The role of next generation sequencing in the differential diagnosis of caroli’s syndrome Balkan Journal of Medical Genetics caroli’s syndrome (cs) polyductin 1 (pkhd1) gene polycystic kidney disease |
| 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 | caroli’s syndrome (cs) polyductin 1 (pkhd1) gene polycystic kidney disease |
| url | https://doi.org/10.2478/bjmg-2018-0027 |
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