SEARCH RESULTS FOR: Cystic-Fibrosis

Lateral Chest X-Ray

Coronal CT

cystic-fibrosis-findings-on-chest-x-ray-and-lung-window-ct-scan

Cystic Fibrosis: Findings on Chest X-Ray and Lung Window CT Scan CFTR mutationàabnormal transmembrane Cl- transport in exocrine tissueà Author: Sean Kennedy Reviewers: Matthew Harding, Amogh Agrawal, Yan Yu, Ciara Hanly, Aman Wadhwani, Zesheng Ye (􏰃􏰄􏰁), Mark Montgomery* * MD at time of publication Collapsed alveoli appears white on x-ray Peribronchial Cuffing secretions become more viscous. (See relevant slide for CF pathogenesis.) As early as at birth, secretions collect in bronchial lumen, delaying mucociliary clearance Mucus plugs and obstructs bronchial lumen Air trapped distal to obstruction and cannot leave lungs Lung Hyperinflation Diaphragm domes below 10th posterior rib and 6th anterior rib on PA CXR Flattened hemidiaphragm, enlarged retrosternal space on lateral CXR With time, pulmonary capillaries gradually absorb gases in alveoli distal to obstruction àalveolar collapse (Atelectasis) Collapsed alveoli more solid and radiodense than airà↓X-ray penetration Adjacent structures may shift towards atelectasis on CXR In first few years of life, retained bronchial secretions serve as nidus for recurrent bacterial colonization and infection Late findings at 10- 30 years oldà secretion accumulation blocks inhaled air to affected lung segments àchronic hypoxia Inflammatory response (cytokines, nitric oxide and radical oxygen species) leads to bronchial and peribronchial destruction Hypoxia induces pulmonary capillary vasoconstriction Some airways are blocked more than others Leakage of fluid into bronchial walls & peri- bronchial regions. Inflammatory cytokines destroy elastic components of bronchi Accumulation of inflammatory exudate in bronchi Pulmonary artery hypertension à Blood backs up in pulmonary arteries Some segments of lung underventilated Fluid around bronchial walls is more radiodense than air à↓X-ray penetration àappears white Bronchiectasis: dilated, thickened, untapered bronchi on CXR/CT Fluid/mucus in bronchi is more radiodense than air, thus appearing white on imaging Edematous bronchi viewed end on are thickened and appear ring-like on CT/CXR Tramlines (AKA Tramtracking) Bronchus wider than corresponding blood vessel on CXR/CT Advanced bronchiectasis is saccular in appearance Mucus-filled bronchi form tubular opacities giving appearance of white fingers on CXR/CT Signet Ring Sign Bronchiectatic Cavities Mucoid Impaction (AKA Finger in glove sign) ↑ Blood dilates pulmonary arteries Blood backs up in right ventricle, dilating it Pulmonary arteries look wider on CXR. Main pulmonary artery >30 mm diameter on CT Right Ventricle Enlargement on CXR/CT Underventilated lung segments appear as lower intensity (darker) than normal ventilated segments which appear as normal intensity (brighter) Mosaic Changes on CT(non- contrast Legend: Pathophysiology Mechanism Sign/Symptom/Lab Finding Complications Published June 13, 2013, updated Aug 18, 2021 on www.thecalgaryguide.com

囊性纤维化-发病机理临床表现及并发症

囊性纤维化: 发病机理, 临床表现及并发症 第7号染色体上的囊性纤维化跨膜传导调节因子(CFTR)基因突变à 囊性纤维化跨膜传导调节( CFTR )蛋白 (一种表达在外分泌组织中的氯离子通道蛋白)功能紊乱 作者: Spencer Montgomery 审稿人: Yan Yu, Kayla Nelson, Mark Montgomery* 译者: Huiting Wang (王慧婷), Yang Xiang (向阳) 翻译审稿人:Ran zhong (钟然), Yonglin Mai (麦泳琳), Zesheng Ye (叶泽生) *发表时担任临床医生 异常氯离子通道蛋白影响Cl-跨膜运输 注意: • CFTR突变呈常染色体隐性遗传 • 已知有> 1700种不同CFTR基因突变类型, ∆F508突变占了高加索人群发病总 数的67% • 囊性纤维化的诊断依据:汗液氯离子浓度↑, CFTR基因突变 & ≥1个相关内 在汗腺中， CFTR蛋白主要 功能为Cl-重吸收 重吸收↓ =汗 液中Cl- 浓度↑ 汗液中Cl- 浓度↑ 在母体 子宫内 输精管 中肾管、输精 管及相关结构 退行性变 男性不育 在身体其他部位的管道上皮组织中， CFTR蛋白促进 Cl- 扩散到分泌物中 外周纤毛液体层Cl- ↓ → 外周纤毛液 体层的含水量↓ 黏液-纤毛系统清除分泌物↓ 分泌物异常聚集并阻塞全身各处的 分泌管腔 下呼吸道 脏有器官系统的 临床症状 儿童/成人: 远端肠梗阻综合征(DIOS) 胃肠道 胆道系统 鼻息肉 胃肠道内容 物蠕动↓ 新生儿: 胎粪性 肠梗阻 胎粪潴留↑→ 肝硬化 & 门静脉高压 新生儿黄疸 胆红素重吸收↑ 时间延长 胆汁排出延迟 →肝炎症反应 上呼吸道 胰腺 淤积在胰腺内 的消化酶消化 胰腺自身 炎症 ;瘢痕增生 & 脂肪组织渗 透 ; 胰岛细胞 受损 II型糖尿病 慢性湿咳 诊断肺部阻塞标志: i.e. 肺过度充气(X线), 肺功能检测异常 鼻窦内分泌 胰腺分泌的消化酶无法进入 物潴留 → 细 胃肠道中 (胰液不足) 分泌物在气道内潴留→ 细菌增殖à 气道感染 & 炎症 持续呼吸道感染可进展为慢性支气管炎 ± 支气管扩张(囊性纤维化最主要的死亡原因) 菌增殖 慢性鼻窦炎 脂质和蛋白 脂溶性维生素吸收 质吸收不良 ↓ 发育不良 血清Vit. D ↓ 骨质疏松症 图注: 病理生理 机制 体征/症状/实验室检查 并发症 2013年1月21日发布于 www.thecalgaryguide.com

囊性纤维化-胸部-x-线和肺窗-ct-扫描结果

囊性纤维化-胸部-x-线和肺窗-ct-扫描结果

Zystische Fibrose: Pathogenese, klinische Befunde und Komplikationen

Zystische Fibrose: Pathogenese, klinische Befunde und Komplikationen

Cystic Fibrosis

Authors: Navdeep Goraya, Spencer Montgomery Reviewers: Yan Yu, Kayla Nelson, Emily J. Doucette, Mark Montgomery*, Danielle Nelson* *MD at time of publication Reproductive Manifestations Incomplete development of Wolffian duct derivatives (vas deferens, epididymis, & seminal vesicles) Cystic Fibrosis (CF): Pathogenesis, clinical findings, and complications Cystic Fibrosis Transmembrane Regulator (CFTR) autosomal recessive gene mutation on chromosome 7 CFTR protein (transmembrane chloride ion channel found in exocrine tissue) dysfunction Mutated CFTR proteins prevent Cl- reabsorption in sweat glands ↑ Secretion of Cl- into sweat ↑ Sweat Cl- concentration Mutated CFTR proteins in duct epithelial tissue of other parts of the body prevent diffusion of Cl- into secretions ↓ Cl- diffusion into peri-ciliary fluid ↓ Water composition of peri-ciliary fluid ↓ Clearance of mucociliary secretions Secretions accumulate in secretory passages throughout the body Inhibition of sperm transport (obstructive azoospermia) Male infertility Upper Respiratory Tract Manifestations Retained secretions in sinuses Failure to clear bacteria in sinuses Persistent neutrophilic inflammation triggers tissue remodeling & mucosal overgrowth Bacterial proliferation Nasal polyps Chronic sinusitis Pancreatic Manifestations Trapped digestive enzymes degrade pancreatic tissue Pancreatic tissue damage triggers inflammation, scarring & fatty tissue replacement Islet cell damage & destruction Cystic-fibrosis related diabetes (CFRD) Lower Respiratory Tract Manifestations Retained secretions in airways Bacterial proliferation in lower airway Airway infection & inflammation Chronic productive cough Signs of obstructive lung disease (lung hyperinflation on x-ray & abnormal pulmonary function tests) Bronchitis ± bronchiectasis** ↓ Production & secretion of pancreatic enzymes into GI tract (pancreatic insufficiency) Fat & protein malabsorption Failure to thrive ↓ Absorption of fat-soluble vitamins Steatorrhea (↑ fat in stool) Vitamin D deficiency Vitamin K deficiency** Rickets** Osteoporosis** Coagulopathies Hepatic Manifestations Delayed passage of bile through biliary tree ↑ Loss of bile acids in stool Inflammatory hepatic response ↑ Production of lithogenic bile (bile supersaturated with cholesterol) Biliary cirrhosis with portal hypertension Cholelithiasis** Gastrointestinal (GI) Manifestations ↓ Movement of intestinal contents In newborns: Meconium ileus In children/adults: Distal ileal obstruction syndrome (DIOS) ↑ Retention of meconium ↑ Reabsorption of bilirubin Prolonged jaundice in neonates **See corresponding Calgary Guide slide Legend: Sign/Symptom/Lab Finding Complications Pathophysiology Mechanism Published Jan 21, 2013; updated Aug 20, 2025 on www.thecalgaryguide.com Reproductive Manifestations Degeneration of Wolffian duct derivatives (vas deferens, epididymis, & seminal vesicles) Inhibition of sperm transport (obstructive azoospermia) Male infertility Cystic Fibrosis (CF): Pathogenesis, clinical findings, and complications Cystic Fibrosis Transmembrane Regulator (CFTR) autosomal recessive gene mutation on chromosome 7 CFTR protein (a transmembrane chloride ion channel that is found in exocrine tissue) dysfunction Authors: Navdeep Goraya, Spencer Montgomery Reviewers: Yan Yu, Kayla Nelson, Emily J. Doucette, Mark Montgomery*, Danielle Nelson* *MD at time of publication Mutated CFTR proteins prevent Cl- reabsorption in sweat glands ↑ Secretion of Cl- into sweat ↑ Sweat Cl- concentration Mutated CFTR proteins in duct epithelial tissue of other parts of the body prevent diffusion of Cl- into secretions ↓ Cl- diffusion into peri-ciliary fluid ↓ Water composition of peri-ciliary fluid ↓ Clearance of mucociliary secretions Secretions accumulate in secretory passages throughout the body Upper Respiratory Tract Manifestations Retained secretions in sinuses Failure to clear bacteria in sinuses Persistent neutrophilic inflammation triggers tissue remodeling & mucosal overgrowth Bacterial proliferation Nasal polyps Chronic sinusitis Lower Respiratory Tract Manifestations Retained secretions in airways Bacterial proliferation in lower airway Airway infection & inflammation Chronic productive cough Signs of obstructive lung disease (lung hyperinflation on x-ray & abnormal pulmonary function tests) Bronchitis ± bronchiectasis** Pancreatic Manifestations Pancreas unable to secrete digestive enzymes into GI tract (pancreatic insufficiency) Fat & protein malabsorption ↓ Absorption of fat-soluble vitamins Failure to thrive ↓ Serum Vitamin D Osteoporosis** Trapped digestive enzymes degrade pancreatic tissue Tissue damage triggers inflammation, scarring & fatty tissue replacement Islet cell destruction Cystic-fibrosis related diabetes (CFRD) Hepatic Manifestations Delayed passage of bile through biliary tree Inflammatory hepatic response Cirrhosis** & portal hypertension Gastrointestinal Manifestations ↓ Movement of intestinal contents In newborns: Meconium ileus In children/adults: Distal ileal obstruction syndrome (DIOS) ↑ Retention of meconium ↑ Reabsorption of bilirubin Prolonged jaundice in neonates Legend: Pathophysiology Mechanism Sign/Symptom/Lab Finding Complications **See corresponding Calgary Guide slide Published January 21, 2013 on www.thecalgaryguide.com Please only review slide 1 – slides 3-7 are previous draft versions. Thank you! Authors: Spencer Montgomery, Navdeep Goraya Reviewers: Yan Yu, Kayla Nelson, Emily J. Doucette, Mark Montgomery*, Name Name* *MD at time of publication In the vas deferens in utero Cystic Fibrosis: Pathogenesis, clinical findings, and complications Cystic Fibrosis Transmembrane Regulator (CFTR) autosomal recessive gene mutation on chromosome 7 CFTR protein (a transmembrane chloride ion channel that is found in exocrine tissue) dysfunction Mutated CFTR proteins prevent Cl- reabsorption in sweat glands ↑ Secretion of Cl- into sweat ↑ Sweat Cl- concentration Mutated CFTR proteins in duct epithelial tissue of other parts of the body prevent diffusion of Cl- into secretions ↓ Cl- diffusion into peri-ciliary fluid ↓ Water composition of peri-ciliary fluid ↓ Clearance of mucociliary secretions Secretions accumulate in secretory passages throughout the body Degeneration of vas deferens, Wolffian ducts & associated structures Infertility in affected males In upper respiratory tract Retained secretions in sinuses Failure to clear bacteria in airways Persistent neutrophilic inflammation triggers tissue remodeling & mucosal overgrowth Bacterial proliferation Chronic sinusitis Nasal polyps In lower respiratory tract Chronic productive cough Retained secretions in airways Bacterial proliferation Airway infection & inflammation Signs of obstructive lung disease (lung hyperinflation on x-ray & abnormal pulmonary function tests) Bronchitis ± bronchiectasis** In pancreas Pancreas unable to secrete digestive enzymes into GI tract (pancreatic insufficiency) Fat & protein malabsorption ↓ Absorption of fat- soluble vitamins Failure to thrive ↓ Serum Vitamin D Osteoporosis** Trapped digestive enzymes degrade pancreatic tissue Tissue damage triggers inflammation, scarring & fatty tissue replacement Islet cell destruction Cystic-fibrosis related diabetes (CFRD) In biliary tree Delayed passage of bile Inflammatory hepatic response Cirrhosis** & portal hypertension In GI tract ↓ Movement of intestinal contents In children/adults: Distal ileal obstruction syndrome (DIOS) In newborns: Meconium ileus ↑ Retention of meconium ↑ Reabsorption of bilirubin Prolonged jaundice in neonates Legend: Pathophysiology Mechanism Sign/Symptom/Lab Finding Complications Published January 21, 2013 on www.thecalgaryguide.com Authors: Spencer Montgomery, Navdeep Goraya Reviewers: Yan Yu, Kayla Nelson, Emily J. Doucette, Mark Montgomery*, Name Name* *MD at time of publication In the vas deferens in utero Cystic Fibrosis: Pathogenesis, clinical findings, and complications Cystic Fibrosis Transmembrane Regulator (CFTR) autosomal recessive gene mutation on chromosome 7 CFTR protein (a transmembrane chloride ion channel that is found in exocrine tissue) dysfunction Mutated CFTR proteins prevent Cl- reabsorption in sweat glands ↑ Secretion of Cl- into sweat ↑ Sweat Cl- concentration Mutated CFTR proteins in duct epithelial tissue of other parts of the body prevent diffusion of Cl- into secretions ↓ Cl- diffusion into peri-ciliary fluid ↓ Water composition of peri-ciliary fluid ↓ Clearance of mucociliary secretions Secretions accumulate in secretory passages throughout the body Degeneration of vas deferens, Wolffian ducts & associated structures Infertility in affected males In upper respiratory tract Retained secretions in sinuses Failure to clear bacteria in airways Persistent neutrophilic inflammation triggers tissue remodeling & mucosal overgrowth Bacterial proliferation Chronic sinusitis Nasal polyps In lower respiratory tract Chronic productive cough Retained secretions in airways Bacterial proliferation Airway infection & inflammation Signs of obstructive lung disease (lung hyperinflation on x-ray & abnormal pulmonary function tests) Bronchitis ± bronchiectasis** Trapped digestive enzymes degrade pancreatic tissue Inflammation Scarring & fatty tissue infiltration Islet cell destruction Type II Diabetes Mellitus** In pancreas Pancreas unable to secrete digestive enzymes into GI tract (pancreatic insufficiency) Fat & protein malabsorption ↓ Absorption of fat- soluble vitamins Failure to thrive ↓ Serum Vitamin D Osteoporosis** In biliary tree Delayed passage of bile Inflammatory hepatic response Cirrhosis** & portal hypertension In GI tract ↓ Movement of intestinal contents In children/adults: Distal ileal obstruction syndrome (DIOS) In newborns: Meconium ileus ↑ Retention of meconium ↑ Reabsorption of bilirubin Prolonged jaundice in neonates Legend: Pathophysiology Mechanism Sign/Symptom/Lab Finding Complications Published January 21, 2013 on www.thecalgaryguide.com In the vas deferens in utero Retained secretions in sinuses Cystic Fibrosis: Pathogenesis, clinical findings, and complications Cystic Fibrosis Transmembrane Regulator (CFTR) autosomal recessive gene mutation on chromosome 7 CFTR protein (a transmembrane chloride ion channel that is found in exocrine tissue) dysfunction Mutated CFTR proteins prevent Cl- reabsorption in sweat glands ↑ Secretion of Cl- into sweat ↑ Sweat Cl- concentration Mutated CFTR proteins in duct epithelial tissue of other parts of the body prevent diffusion of Cl- into secretions ↓ Cl- diffusion into peri-ciliary fluid ↓ Water composition of peri-ciliary fluid ↓ Clearance of mucociliary secretions Accumulation of secretions in secretory passages throughout the body obstructing these passages Authors: Spencer Montgomery, Navdeep Goraya Reviewers: Yan Yu, Kayla Nelson, Emily J. Doucette, Mark Montgomery* *MD at time of publication Degeneration of vas deferens, Wolffian ducts & associated structures Infertility in affected males In upper respiratory tract Failure to clear bacteria in airways Bacterial proliferation Chronic sinusitis Nasal polyps In lower respiratory tract Chronic productive cough Retained secretions in airways Bacterial proliferation Airway infection & inflammation Signs of obstructive lung disease i.e. lung hyperinflation on x-ray & abnormal pulmonary function tests Bronchitis ± bronchiectasis Trapped digestive enzymes degrade pancreatic tissue Inflammation Scarring & fatty tissue infiltration Islet cell destruction Type II Diabetes Mellitus In pancreas Pancreas unable to secrete digestive enzymes into GI tract (pancreatic insufficiency) Fat and protein malabsorption ↓ Absorption of fat- soluble vitamins Failure to thrive ↓Serum Vitamin D Osteoporosis In biliary tree Delayed passage of bile Inflammatory hepatic response Cirrhosis & portal hypertension In GI tract ↓ Movement of intestinal contents In children/adults: Distal ileal obstruction syndrome (DIOS) In newborns: Meconium ileus ↑ Retention of meconium ↑ Reabsorption of bilirubin Prolonged jaundice in neonates Legend: Pathophysiology Mechanism Sign/Symptom/Lab Finding Complications Published January 21, 2013 on www.thecalgaryguide.com In the vas deferens in utero Cystic Fibrosis: Pathogenesis, clinical findings, and complications Cystic Fibrosis Transmembrane Regulator (CFTR) autosomal recessive gene mutation on chromosome 7 CFTR protein (a transmembrane chloride ion channel that is found in exocrine tissue) dysfunction Chloride channel no longer allows Cl- transport CFTR proteins in sweat glands reabsorb Cl- CFTR proteins in duct epithelial tissue of other parts of the body facilitate diffusion of Cl- into secretions ↓Reabsorption ↓Cl- diffusion into peri-ciliary fluid ↓Water composition of peri-ciliary fluid ↑Secretion of Cl- into sweat ↓Clearance of mucociliary secretions ↑Sweat Cl- concentration Accumulation of secretions in secretory passages throughout the body obstructing these passages Degeneration of vas deferens, Wolffian ducts & associated structures Authors: Spencer Montgomery, Navdeep Goraya Reviewers: Yan Yu, Kayla Nelson, Emily J. Doucette, Mark Montgomery* *MD at time of publication Infertility in affected males In upper respiratory tract Retained secretions in sinuses Nasal polyps Bacterial proliferation Chronic sinusitis In lower respiratory tract Chronic productive cough Retained secretions in airways Bacterial proliferation Signs of obstructive lung disease i.e. lung hyperinflation on x-ray & abnormal pulmonary function tests Airway infection & inflammation Bronchitis ± bronchiectasis Trapped digestive enzymes degrade pancreatic tissue Inflammation Scarring & fatty tissue infiltration Islet cell destruction Type II Diabetes Mellitus In pancreas Pancreas unable to secrete digestive enzymes into GI tract (pancreatic insufficiency) Fat and protein malabsorption ↓Absorption of fat- soluble vitamins Failure to thrive ↓Serum Vitamin D Osteoporosis In biliary tree Delayed passage of bile Inflammatory hepatic response Cirrhosis & portal hypertension In GI tract ↓Movement of intestinal contents In children/adults: Distal ileal obstruction syndrome (DIOS) In newborns: Meconium ileus ↑Retention of meconium ↑Reabsorption of bilirubin Prolonged jaundice in neonates Legend: Pathophysiology Mechanism Sign/Symptom/Lab Finding Complications Published January 21, 2013 on www.thecalgaryguide.com In the vas deferens in utero Degeneration of vas deferens, Wolffian ducts and associated structures Infertility in affected males Legend: Cystic Fibrosis: Pathogenesis, clinical findings, and complications Mutation of Cystic Fibrosis Transmembrane Regulator (CFTR) gene on chromosome 7 à Dysfunction of the CFTR protein (a transmembrane chloride ion channel that is found in exocrine tissue) Author: Spencer Montgomery Reviewers: Yan Yu, Kayla Nelson, Mark Montgomery* * MD at time of publication Chloride channel no longer allows Cl- transport In sweat glands, CFTR proteins are responsible for the reabsorption of Cl- In duct epithelial tissue of other parts of the body, CFTR proteins facilitate diffusion of Cl- into secretions Notes: • The CFTR mutation exhibits an autosomal recessive inheritance pattern • > 1700 different CFTR gene mutations are identified, ∆F508 mutation accounts for ~67% of cases in Caucasians. • Cystic fibrosis is diagnosed based presence of ↑ sweat chloride concentration, disease causing CFTR mutations, & symptoms of ≥ 1 associated organ system ↓ Cl- diffusion into peri-ciliary fluid → ↓water composition of peri-ciliary fluid In children/adults: Distal ileal obstruction syndrome (DIOS) ↓ reabsorption = ↑secretion of Cl- into sweat In GI tract ↓movement of intestinal contents ↓ clearance of mucociliary secretions In newborns: Meconium ileus ↑ retention of meconium → ↑ reabsorption of bilirubin Prolonged jaundice in neonates ↑ Sweat chloride concentration Accumulation of secretions in secretory passages throughout the body, obstructing these passages In biliary tree Delayed passage of bile → inflammatory hepatic response Cirrhosis & portal hypertension In upper respiratory tract In pancreas Trapped digestive enzymes degrade pancreatic tissue Nasal polyps Retained secretions in sinuses → bacterial proliferation Pancreas unable to secrete digestive enzymes into GI tract (pancreatic insufficiency) Fat and protein mal- absorption ↓ absorption of fat soluble vitamins Inflammation → scarring & fatty tissue infiltration → islet cell destruction Chronic sinusitis ↓ serum Vit. D Type II Diabetes Mellitus Failure to thrive Osteoporosis Published January 21, 2013 on www.thecalgaryguide.com In lower respiratory tract Chronic productive cough Retained secretions in airways → bacterial proliferation à Airway infection & inflammation Persistent respiratory tract infections Can progress to chronic bronchitis ± bronchiectasis (This is the biggest cause of death in CF) Pathophysiology Signs of obstructive lung dx: i.e. Lung hyperinflation (on x-ray), Abnormal pulmonary function tests Mechanism Sign/Symptom/Lab Finding Complications