Balkan Journal of Medical Genetics

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

CONCLUSIONS

We report the discovery of two pathogenic variants on the PKHD1 gene, causing CD with polycystic kidney disease in a patient undiagnosed for many years. In selected cases, clinical testing may be insufficient to clearly differentiate between the genetic and non genetic etiologies of the observed disorders, as was in this case of CD. In this small group of patients, genetic diagnostics may prove helpful. Finally, in children and adult patients who present with recurrent cholangitis and hepato/splenomegaly or in all cases with cholangitis and polycystic kidney disease, a diagnosis of the genetic condition CD or CS, should be considered. Declaration of Interest. The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.

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