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Cystic fibrosis

Changed by Subhan Iqbal, 17 Aug 2023
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Disclosures - updated 17 Sep 2022: Nothing to disclose

Updates to Article Attributes

Body was changed:

Cystic fibrosis (CF), also called mucoviscidosis, is an autosomal recessive genetic disease that affects the exocrine function of the lungs, liver, pancreas, small bowel, sweat glands, and the male genital system 11. This is resulting in progressive disability and multisystem failure. This article is a general discussion of the disease. Each organ system will be discussed separately.

Epidemiology

Cystic fibrosis is the most common genetic disease affecting European population with an incidence of approximately 1:2000-3500 live births 5.

Clinical presentation

The diagnosis may be suspected antenatally due to the presence of echogenic bowel on antenatal ultrasound, or due to genetic testing of the parents.

In many countries, the presence of cystic fibrosis is tested for immediately after birth with a sweat test (positive sweat chloride test Cl >60 mEq/L) 5. Alternatively, genetic testing is also available.

The diagnosis usually becomes evident in infancy, with presentations including:

Pathology

Genetics

Cystic fibrosis is due to a homozygous defect of the CFTR gene located on chromosome 7q31.2. This gene encodes for a transmembrane protein known as cystic fibrosis transmembrane regulator (CFTR) which is responsible for regulating chloride passage across cell membranes. There are at least 6 classes of mutations, the commonest being ∂F508 (66-70%) 6.

In skin, unlike elsewhere, the CFTR protein is responsible for the influx of chloride and increases the sodium channel activity, thus controlling the influx of sodium. The net effect of a normally functioning CFTR is to resorb sodium and chloride. In CF patients, this is lost and therefore the characteristic increase in salt content of sweat (thus the sweat test).

In tissues other than skin, the CFTR protein is responsible for efflux of chloride and inhibition of the sodium channel's activity which controls the influx of sodium. Therefore, under normal circumstances, salt and chloride remain in the lumen and keep water there osmotically. In CF patients, too little chloride is pumped out, too much sodium is resorbed with osmotic resorption of water from the lumen. The result is iso-osmotic, but low volume, secretions, which tend to dry out, or be thick as they still contain all the other constituents.

Treatment and prognosis

Early institution of multidisciplinary treatment is essential and responsible for the dramatic increase in life expectancy, now reaching 40 or more years.

Treatment options include 7:

  • prolonged courses of antibiotics

  • oral and inhaled corticosteroids

  • pancreatic enzyme supplementation: required in 85% cases

  • vitamin supplementation

  • insulin

  • physiotherapy

  • lung transplantation

In the 2010s, a new group of drugs specifically targetting the molecular defects in cystic fibrosis known as CFTR modulators were introduced. These specifically act on the defective cystic fibrosis transmembrane regulator (CFTR) 10.

  • ivacaftor: most effective in those with G551D defect, only 2.3% of patients

  • lumacaftor: designed for the common ∂F508 mutation, but little functional improvements in trials

  • lumacaftor and ivacaftor: combination therapy: approved for ∂F508 mutations

Both transplanted and non-transplanted CF patients are at increased risk of some malignancies 8:

  • -<a href="/articles/cystic-fibrosis-pulmonary-manifestations-1">pulmonary manifestations</a><ul>
  • -<li><a href="/articles/bronchiectasis">bronchiectasis</a></li>
  • -<li><a href="/articles/pneumothorax">pneumothorax</a></li>
  • -<li>recurrent bacterial infection</li>
  • -<li><a href="/articles/pulmonary-hypertension-1">pulmonary arterial hypertension</a></li>
  • +<p><a href="/articles/cystic-fibrosis-pulmonary-manifestations-1">pulmonary manifestations</a></p>
  • +<ul>
  • +<li><p><a href="/articles/bronchiectasis">bronchiectasis</a></p></li>
  • +<li><p><a href="/articles/pneumothorax">pneumothorax</a></p></li>
  • +<li><p>recurrent bacterial infection</p></li>
  • +<li><p><a href="/articles/pulmonary-hypertension-1">pulmonary arterial hypertension</a></p></li>
  • -<a href="/articles/abdominal-manifestations-of-cystic-fibrosis">abdominal manifestations</a><ul>
  • -<li>pancreas (most common abdominal organ involved <sup>9</sup>)<ul>
  • -<li>exocrine and endocrine insufficiency</li>
  • -<li><a href="/articles/pancreatic-lipomatosis">fatty replacement of pancreas</a></li>
  • +<p><a href="/articles/abdominal-manifestations-of-cystic-fibrosis">abdominal manifestations</a></p>
  • +<ul>
  • -<a href="/articles/pancreatitis">pancreatitis</a> (<a href="/articles/acute-pancreatitis">acute</a> and <a href="/articles/chronic-pancreatitis-2">chronic</a>)</li>
  • -<li><a href="/articles/cystic-lesions-of-the-pancreas-differential">pancreatic cysts</a></li>
  • +<p>pancreas (most common abdominal organ involved <sup>9</sup>)</p>
  • +<ul>
  • +<li><p>exocrine and endocrine insufficiency</p></li>
  • +<li><p><a href="/articles/pancreatic-lipomatosis">fatty replacement of pancreas</a></p></li>
  • +<li><p><a href="/articles/pancreatitis">pancreatitis</a> (<a href="/articles/acute-pancreatitis">acute</a> and <a href="/articles/chronic-pancreatitis-2">chronic</a>)</p></li>
  • +<li><p><a href="/articles/cystic-lesions-of-the-pancreas-differential">pancreatic cysts</a></p></li>
  • -<li>liver<ul>
  • -<li><a href="/articles/diffuse-hepatic-steatosis">hepatic steatosis</a></li>
  • -<li>focal biliary and multilobular <a href="/articles/cirrhosis">cirrhosis</a> </li>
  • -<li><a href="/articles/portal-hypertension">portal hypertension</a></li>
  • +<li>
  • +<p>liver</p>
  • +<ul>
  • +<li><p><a href="/articles/diffuse-hepatic-steatosis">hepatic steatosis</a></p></li>
  • +<li><p>focal biliary and multilobular <a href="/articles/cirrhosis">cirrhosis</a> </p></li>
  • +<li><p><a href="/articles/portal-hypertension">portal hypertension</a></p></li>
  • -<li>biliary system<ul>
  • -<li><a href="/articles/gallstones-1">cholelithiasis</a></li>
  • -<li><a href="/articles/microgallbladder">microgallbladder</a></li>
  • -<li><a href="/articles/sclerosing-cholangitis">sclerosing cholangitis</a></li>
  • +<li>
  • +<p>biliary system</p>
  • +<ul>
  • +<li><p><a href="/articles/gallstones-1">cholelithiasis</a></p></li>
  • +<li><p><a href="/articles/microgallbladder">microgallbladder</a></p></li>
  • +<li><p><a href="/articles/sclerosing-cholangitis">sclerosing cholangitis</a></p></li>
  • -<li>gastrointestinal tract<ul>
  • -<li><a href="/articles/distal-intestinal-obstruction-syndrome-1">distal intestinal obstruction syndrome (DIOS)</a></li>
  • -<a href="/articles/meconium-ileus">meconium ileus</a>: 10-20%</li>
  • -<li><a href="/articles/rectal-prolapse">rectal prolapse</a></li>
  • -<li>oesophageal dysfunction / <a href="/articles/rectal-prolapse">gastro-oesophageal reflux</a>
  • -</li>
  • -<li>distension of appendix but reduced risk of <a href="/articles/acute-appendicitis-2">appendicitis</a>
  • -</li>
  • +<p>gastrointestinal tract</p>
  • +<ul>
  • +<li><p><a href="/articles/distal-intestinal-obstruction-syndrome-1">distal intestinal obstruction syndrome (DIOS)</a></p></li>
  • +<li><p><a href="/articles/meconium-ileus">meconium ileus</a>: 10-20%</p></li>
  • +<li><p><a href="/articles/rectal-prolapse">rectal prolapse</a></p></li>
  • +<li><p>oesophageal dysfunction / <a href="/articles/rectal-prolapse">gastro-oesophageal reflux</a></p></li>
  • +<li><p>distension of appendix but reduced risk of <a href="/articles/acute-appendicitis-2">appendicitis</a></p></li>
  • -<a href="/articles/head-and-neck-manifestations-of-cystic-fibrosis">head and neck manifestations</a><ul>
  • -<li><a href="/articles/chronic-sinusitis">chronic sinusitis</a></li>
  • -<li><a href="/articles/sinonasal-polyposis">nasal polyposis</a></li>
  • +<p><a href="/articles/head-and-neck-manifestations-of-cystic-fibrosis">head and neck manifestations</a></p>
  • +<ul>
  • +<li><p><a href="/articles/chronic-sinusitis">chronic sinusitis</a></p></li>
  • +<li><p><a href="/articles/sinonasal-polyposis">nasal polyposis</a></p></li>
  • -<li><a href="/articles/cystic-fibrosis-musculoskeletal-manifestations">musculoskeletal manifestations</a></li>
  • -<li>urogenital tract manifestations <sup>11</sup><ul>
  • -<li>bilateral seminal vesicle agenesis</li>
  • -<li><a href="/articles/testicular-microlithiasis">testicular microlithiasis</a></li>
  • -<li>hypoplasia or agenesis of the ductus deferens</li>
  • -<li>hypoplasia or agenesis of the tail and body of the epididymis</li>
  • +<li><p><a href="/articles/cystic-fibrosis-musculoskeletal-manifestations">musculoskeletal manifestations</a></p></li>
  • +<li>
  • +<p>urogenital tract manifestations <sup>11</sup></p>
  • +<ul>
  • +<li><p>bilateral seminal vesicle agenesis</p></li>
  • +<li><p><a href="/articles/testicular-microlithiasis">testicular microlithiasis</a></p></li>
  • +<li><p>hypoplasia or agenesis of the ductus deferens</p></li>
  • +<li><p>hypoplasia or agenesis of the tail and body of the epididymis</p></li>
  • -<li><a href="/articles/meconium-ileus">meconium ileus</a></li>
  • -<li><a href="/articles/rectal-prolapse">rectal prolapse</a></li>
  • -<li>recurrent <a href="/articles/pulmonary-infection">pulmonary infection</a>
  • -</li>
  • +<li><p><a href="/articles/meconium-ileus">meconium ileus</a></p></li>
  • +<li><p><a href="/articles/rectal-prolapse">rectal prolapse</a></p></li>
  • +<li><p>recurrent <a href="/articles/pulmonary-infection">pulmonary infection</a></p></li>
  • +<li><p>steatorrhoea <sup>12</sup></p></li>
  • +<li><p>poor weigh gain</p></li>
  • -<li>prolonged courses of antibiotics</li>
  • -<li>oral and inhaled corticosteroids</li>
  • -<li>pancreatic enzyme supplementation: required in 85% cases</li>
  • -<li>vitamin supplementation</li>
  • -<li>insulin</li>
  • -<li>physiotherapy</li>
  • -<li>lung transplantation</li>
  • +<li><p>prolonged courses of antibiotics</p></li>
  • +<li><p>oral and inhaled corticosteroids</p></li>
  • +<li><p>pancreatic enzyme supplementation: required in 85% cases</p></li>
  • +<li><p>vitamin supplementation</p></li>
  • +<li><p>insulin</p></li>
  • +<li><p>physiotherapy</p></li>
  • +<li><p>lung transplantation</p></li>
  • -<li>ivacaftor: most effective in those with G551D defect, only 2.3% of patients</li>
  • -<li>lumacaftor: designed for the common ∂F508 mutation, but little functional improvements in trials</li>
  • -<li>lumacaftor and ivacaftor: combination therapy: approved for ∂F508 mutations</li>
  • +<li><p>ivacaftor: most effective in those with G551D defect, only 2.3% of patients</p></li>
  • +<li><p>lumacaftor: designed for the common ∂F508 mutation, but little functional improvements in trials</p></li>
  • +<li><p>lumacaftor and ivacaftor: combination therapy: approved for ∂F508 mutations</p></li>
  • -<li>gastrointestinal malignancy, in particular <a href="/articles/oesophageal-carcinoma-1">oesophageal</a>, <a href="/articles/gastric-cancer-summary">gastric</a>, <a href="/articles/adenocarcinoma-of-the-small-bowel">small bowel</a>, and <a href="/articles/colorectal-cancer-1">colorectal cancer</a>
  • -</li>
  • -<li>
  • -<a href="/articles/gallbladder-cancer-2">gallbladder</a> and extrahepatic <a href="/articles/cholangiocarcinoma">biliary tree</a>
  • -</li>
  • -<li>
  • -<a href="/articles/lymphoma">lymphoma</a>/<a href="/articles/leukaemia">leukaemia</a>
  • -</li>
  • -<li><a href="/articles/testicular-cancer">testicular cancer</a></li>
  • +<li><p>gastrointestinal malignancy, in particular <a href="/articles/oesophageal-carcinoma-1">oesophageal</a>, <a href="/articles/gastric-cancer-summary">gastric</a>, <a href="/articles/adenocarcinoma-of-the-small-bowel">small bowel</a>, and <a href="/articles/colorectal-cancer-1">colorectal cancer</a></p></li>
  • +<li><p><a href="/articles/gallbladder-cancer-2">gallbladder</a> and extrahepatic <a href="/articles/cholangiocarcinoma">biliary tree</a></p></li>
  • +<li><p><a href="/articles/lymphoma">lymphoma</a>/<a href="/articles/leukaemia">leukaemia</a></p></li>
  • +<li><p><a href="/articles/testicular-cancer">testicular cancer</a></p></li>

References changed:

  • 12. Ong T & Ramsey B. Cystic Fibrosis: A Review. JAMA. 2023;329(21):1859-71. <a href="https://doi.org/10.1001/jama.2023.8120">doi:10.1001/jama.2023.8120</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/37278811">Pubmed</a>

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