THE ROLE OF NEXT GENERATION SEQUENCING
IN THE DIFFERENTIAL DIAGNOSIS
OF CAROLI’S SYNDROME
Smolović B, Muhović D, Hodžić A, Bergant G, Peterlin B
*Corresponding Author: Professor Borut Peterlin, M.D., Ph.D., Department of Gynecology and
Obstetrics, Institute of Medical Genetics, Department of Gynecology and Obstetrics, University
Medical Centre Ljubljana, Šlajmerjeva Street 4, Ljubljana, Slovenia. Tel./Fax: +386-(0)1-540-1137.
E-mail: borut.peterlin@guest.arnes.si
page: 49
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Abstract
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 nongenetic
ethiologies.
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