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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CASE PRESENTATION
Patient Description. A 41-year-old man presented
with fever, chills, fatigue, nausea, vomiting and pain in
right upper abdominal quadrant. During physical examination,
we observed a poor general state with a temperature of
39 °C, tachycardia, mild icterus and hepatosplenomegaly.
Laboratory analysis showed increased parameters
of acute inflammation, liver and kidney function tests
(Table 1). Magnetic resonance cholangiopancreatography
(MRCP) revealed hepatosplenomegaly, multiple cysts in
both kidneys with reduced parenchyma, and diffuse cystic/
fusiform dilatation of the intrahepatic bile ducts, which was
more evident in the left lobe (Figures 1 and 2).
The patient had the first episode of pyelonephritis at
9 months of age, when vesicoureteral reflux and enlarged
kidneys were also observed. Monitoring by a nephrologist
started when patient was at age 20, due to chronic
renal insufficiency assumed as a consequence of chronic
pyelo-nephritis. Since then, he has been on a conservative
treatment for chronic renal insufficiency.
During his thirties, he was treated in hospital several
times for recurrent cholangitis. Magnetic resonance chol-angiopancreatography and endoscopic retrograde
chol-angiopancreatography (ERCP) were performed multiple
times. First, the differential diagnosis of CD with
polycystic kidney disease and PSC with dysplastic kidney
disease was established. As part of further examination,
a liver biopsy showed the existence of a multiple bile
duct hamartomas (MBH), without evidence of CHF and
portal hypertension. On the following ERCP and MRCP
examinations, changes in bile duct pointing to PSC were
described and the diagnosis was leaning towards PSC.
Thus, the diagnosis remained unclear after classical imaging
studies and additional evidence was required to establish
the definitive diagnosis.
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