Primary sclerosing cholangitis is associated with abnormalities in CFTR. J Cyst Fibros 2018 Sep;17(5):666-671
Date
05/29/2018Pubmed ID
29807875DOI
10.1016/j.jcf.2018.04.005Scopus ID
2-s2.0-85047435465 (requires institutional sign-in at Scopus site) 12 CitationsAbstract
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.
Author List
Werlin S, Scotet V, Uguen K, Audrezet MP, Cohen M, Yaakov Y, Safadi R, Ilan Y, Konikoff F, Galun E, Mizrahi M, Slae M, Sayag S, Cohen-Cymberknoh M, Wilschanski M, Ferec CAuthor
Steven L. Werlin MD Emeritus Professor in the Pediatrics department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
AdolescentAdult
Aged
Alleles
Chlorides
Cholangitis, Sclerosing
Cystic Fibrosis Transmembrane Conductance Regulator
Female
Genotype
Humans
Ion Transport
Israel
Male
Middle Aged
Mutation
Polymorphism, Genetic
Sweat
