囊性纤维化跨膜传导调节因子：F508d/A613T突变与胰腺炎反复发作有关。
CFTR:F508d/A613T Mutation Is Associated With Recurrent Episodes of Pancreatitis.
作者信息
Lin Cindy, Woolfson Jessica P
机构信息
From The University of Western Ontario, Schulich School of Medicine and Dentistry, London, ON, Canada.
Division of Pediatric Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, The Children's Hospital at London Health Sciences Centre, London, ON, Canada.
出版信息
JPGN Rep. 2021 Nov 29;3(1):e142. doi: 10.1097/PG9.0000000000000142. eCollection 2022 Feb.
Pancreatic insufficiency (PI) is found in 85% of individuals with cystic fibrosis (CF). Of the remaining who are pancreatic sufficient (PS), there is potential for developing pancreatitis, and is described in ~20% of PS individuals. We report a case of a 17.5-year-old female presenting with acute recurrent pancreatitis (ARP) and PS, later diagnosed with CF. This is the first reported case of ARP in an individual with a genotype. To date, there are only 6 other individuals with this genotype, and the mechanisms of it causing ARP and no overt respiratory symptoms of CF are unclear. Her diagnosis occurred 10 years after her initial presentation of pancreatitis, highlighting the importance of screening for CFTR mutations in the workup for ARP with no clear etiology.
85%的囊性纤维化（CF）患者存在胰腺功能不全（PI）。在其余胰腺功能正常（PS）的患者中，有发生胰腺炎的可能，约20%的PS患者会出现这种情况。我们报告了一例17.5岁女性，表现为急性复发性胰腺炎（ARP）且胰腺功能正常，后来被诊断为CF。这是首例报告的具有某基因型个体发生ARP的病例。迄今为止，只有另外6名个体具有这种基因型，其导致ARP且无CF明显呼吸道症状的机制尚不清楚。她在首次出现胰腺炎10年后才得到诊断，这凸显了在病因不明的ARP检查中筛查CFTR突变的重要性。
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