Lavelle Lisa P, McEvoy Sinead H, Ni Mhurchu Elaine, Gibney Robert G, McMahon Colm J, Heffernan Eric J, Malone Dermot E
From the Department of Radiology, St Vincent's University Hospital, Elm Park, Dublin 4, Ireland.
Radiographics. 2015 May-Jun;35(3):680-95. doi: 10.1148/rg.2015140110. Epub 2015 Apr 24.
Cystic fibrosis (CF) is the most common lethal autosomal recessive disease in the white population. Mutation of the CF transmembrane conductance regulator gene on chromosome 7 results in production of abnormally viscous mucus and secretions in the lungs of patients with CF. A similar pathologic process occurs in the gastrointestinal tract, pancreas, and hepatobiliary system. Inspissated mucus causes luminal obstruction and resultant clinical and radiologic complications associated with the disease process. Pancreatic involvement can result in exocrine and endocrine insufficiency, pancreatic atrophy, fatty replacement, or lipomatous pseudohypertrophy. Acute and chronic pancreatitis, pancreatic calcification, cysts, and cystosis also occur. Hepatic manifestations include hepatic steatosis, focal biliary and multilobular cirrhosis, and portal hypertension. Biliary complications include cholelithiasis, microgallbladder, and sclerosing cholangitis. The entire digestive tract can be involved. Distal ileal obstruction syndrome, intussusception, appendicitis, chronic constipation, colonic wall thickening, fibrosing colonopathy, pneumatosis intestinalis, gastroesophageal reflux, and peptic ulcer disease have been described. Renal manifestations include nephrolithiasis and secondary amyloidosis. The educational objectives of this review are to reveal the abdominal manifestations of CF to facilitate focused analysis of cross-sectional imaging in adult patients. Life expectancy in patients with CF continues to improve because of a combination of aggressive antibiotic treatment, improved emphasis on nutrition and physiotherapy, and development of promising new CF transmembrane conductance regulator modulators. As lung function and survival improve, extrapulmonary conditions, including hepatic and gastrointestinal malignancy, will be an increasing cause of morbidity and mortality. Awareness of the expected abdominal manifestations of CF may assist radiologists in identifying acute inflammatory or neoplastic conditions. (©)RSNA, 2015.
囊性纤维化（CF）是白种人群中最常见的致死性常染色体隐性疾病。7号染色体上的囊性纤维化跨膜传导调节基因发生突变，导致CF患者肺部产生异常黏稠的黏液和分泌物。类似的病理过程也发生在胃肠道、胰腺和肝胆系统。黏稠的黏液会导致管腔阻塞，并引发与疾病进程相关的临床和影像学并发症。胰腺受累可导致外分泌和内分泌功能不全、胰腺萎缩、脂肪替代或脂肪瘤样假性肥大。急性和慢性胰腺炎、胰腺钙化、囊肿和囊性病也会出现。肝脏表现包括肝脂肪变性、局灶性胆管和多叶性肝硬化以及门静脉高压。胆道并发症包括胆结石、小胆囊和硬化性胆管炎。整个消化道均可受累。已报道有远端回肠梗阻综合征、肠套叠、阑尾炎、慢性便秘、结肠壁增厚、纤维性结肠病、肠壁积气、胃食管反流和消化性溃疡病。肾脏表现包括肾结石和继发性淀粉样变性。本综述的教育目标是揭示CF的腹部表现，以便于对成年患者的横断面成像进行重点分析。由于积极的抗生素治疗、对营养和物理治疗的重视程度提高以及有前景的新型囊性纤维化跨膜传导调节因子调节剂的研发，CF患者的预期寿命持续提高。随着肺功能和生存率的改善，包括肝脏和胃肠道恶性肿瘤在内的肺外疾病将成为发病率和死亡率增加的一个日益重要的原因。了解CF预期的腹部表现可能有助于放射科医生识别急性炎症或肿瘤性疾病。（©）RSNA，2015年。
