Primary sclerosing cholangitis is associated with abnormalities in CFTR

Steven Werlin, Virginie Scotet, Kevin Uguen, Marie Pierre Audrezet, Michael Cohen, Yasmin Yaakov, Rifaat Safadi, Yaron Ilan, Fred Konikoff, Eitan Galun, Meir Mizrahi, Mordechai Slae, Shirley Sayag, Malena Cohen-Cymberknoh, Michael Wilschanski, Claude Ferec

Research output: Contribution to journalArticlepeer-review

Abstract

Background: The etiology of primary sclerosing cholangitis (PSC) is unknown. PSC and Cystic Fibrosis related liver disease have common features: chronic inflammation, biliary damage and similar cholangiographic findings. It is unknown whether or not PSC is related to cystic fibrosis transmembrane conductance regulator (CFTR) dysfunction. We hypothesize that a sub-group of PSC patients may be a “single-organ” presentation of CF. Methods: Patients with PSC underwent nasal potential difference (NPD) measurement, sweat chloride measurement and complete CFTR sequencing by new generation sequencing. Results: 6/32 patients aged 46 ± 13 yrs. had CFTR causing mutations on one allele and 19 had CFTR polymorphisms; 6/23 tested had abnormal and 21 had intermediate sweat tests; 4/32 patients had abnormal NPD. One patient had chronic pancreatitis and was infertile. Conclusions: 19% of PSC patients had features of CFTR related disorder, 19% carry CFTR mutations and 50% had CFTR polymorphisms. In some patients, PSC may be a single organ presentation of CF or a CFTR-related disorder.

Original languageEnglish
Pages (from-to)666-671
Number of pages6
JournalJournal of Cystic Fibrosis
Volume17
Issue number5
DOIs
StatePublished - Sep 2018
Externally publishedYes

Keywords

  • CFTR-related disorder
  • Nasal potential difference
  • New generation sequencing
  • Primary sclerosing cholangitis

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