AI Article Synopsis
- The study investigates the potential link between primary sclerosing cholangitis (PSC) and cystic fibrosis (CF), suggesting that PSC may represent a "single-organ" presentation of CF in some patients.
- Patients with PSC were tested for CFTR gene mutations, sweat chloride levels, and nasal potential difference to assess CFTR dysfunction.
- Results showed that 19% of PSC patients had CFTR-causing mutations or related features, indicating that PSC could be associated with CFTR-related disorders in some cases.
Article 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.
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| http://dx.doi.org/10.1016/j.jcf.2018.04.005 | DOI Listing |
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