原发性硬化性胆管炎与 CFTR 的异常有关。
Primary sclerosing cholangitis is associated with abnormalities in CFTR.
机构信息
Pediatric Gastroenterology, Medical College of Wisconsin, Milwaukee, WI, USA.
Laboratory of Molecular Genetics and Histocompatibility, University Hospital of Brest, Institut National de la Santé et de la Recherche Médicale, U1078 Brest, France.
出版信息
J Cyst Fibros. 2018 Sep;17(5):666-671. doi: 10.1016/j.jcf.2018.04.005. Epub 2018 May 26.
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.
背景
原发性硬化性胆管炎（PSC）的病因尚不清楚。PSC 和囊性纤维化相关肝病有共同特征：慢性炎症、胆管损伤和类似的胆管造影表现。目前尚不清楚 PSC 是否与囊性纤维化跨膜电导调节因子（CFTR）功能障碍有关。我们假设，一小部分 PSC 患者可能是 CF 的“单一器官”表现。
方法
对 PSC 患者进行鼻电位差（NPD）测量、汗液氯测量和新一代测序的完整 CFTR 测序。
结果
32 名年龄为 46±13 岁的患者中，有 6 名患者在一个等位基因上有 CFTR 致病突变，19 名患者有 CFTR 多态性；6 名患者的汗液检查异常，21 名患者的汗液检查处于中间水平；32 名患者中有 4 名 NPD 异常。一名患者患有慢性胰腺炎和不育。
结论
19%的 PSC 患者有 CFTR 相关疾病的特征，19%的患者携带 CFTR 突变，50%的患者有 CFTR 多态性。在某些患者中，PSC 可能是 CF 或 CFTR 相关疾病的单一器官表现。
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