Caroli syndrome: a clinical case with detailed histopathological analysis
Herein we present a clinical case of the Caroli syndrome caused by the compound heterozygous mutation in the PKHD1 gene. Histopathological assessment of liver detected biliary cirrhosis, numerous dilated bile ducts of various sizes, hyperplastic cholangiocytes containing a large amount of acid mucopolysaccharides, decreased ß-tubulin expression and increased proliferation of cholangiocytes. A significant proportion of hepatic tissue was composed of giant cysts lined with a single layer of cholangiocytes, containing pus and bile in its lumen and surrounded by granulation tissue. An accumulation of neutrophils in the lumen of the bile ducts was observed, as well as an infiltration of the ducts and cysts surrounding connective tissue by CD4+ and to a lesser extent CD8+ lymphocytes. This may be caused by the expression of HLA-DR by cholangiocytes. Atrophy and desquamation of the epithelium of collecting tubules with the formation of microcysts were detected in the kidneys without a clinically significant loss of renal function. Morphopathogenetic mechanisms of the Caroli syndrome can be targets for a potential pathogenetic therapy and prevention of its manifestations and complications.
KeywordsCaroli syndrome Fibrocystin Ciliopathy Histopathology
Authors MOM, APK and RVD conceived and designed the study, and wrote, edited and reviewed the manuscript. Authors AAT, RRS, MSA, ILP performed histological analysis, and reviewed the manuscript. Authors IMS, NFG, SRA performed clinical examination and reviewed the manuscript. Authors INK, AAI performed genetic analysis and reviewed the manuscript. All authors gave final approval for publication. Author MMO takes full responsibility for the work as a whole, including the study design, access to data and the decision to submit and publish the manuscript.
The work is performed according to the Russian Government Program of Competitive Growth of Kazan Federal University.
Compliance with ethical standards
Conflict of interest
The authors declare that they have no conflict of interest.
All procedures followed have been performed in accordance with the ethical standards laid down in the 1964 Declaration of Helsinki and its later amendments.
Consent cannot be obtained because the patient is dead, and the parents/guardian cannot be traced. This study does not contain identifying information of the patients.
- 3.Caroli J, Soupalt R, Kossakowski J, et al. La dilatation polykystique congenitale des voies biliaires intrahepatiques. Essai del classification Sem Hop Paris. 1958;34:488–95.Google Scholar
- 12.Nishimoto H, Yamada G, Mizuno M, et al. Immunoelectron microscopic localization of MHC class 1 and 2 antigens on bile duct epithelial cells in patients with primary biliary cirrhosis. Acta Med Okayama. 1994;48:317–22.Google Scholar