Cystic fibrosis is the most common fatal genetic disease in the caucasian race. It is inherited autosomal recessively. The incidence rate is 1/2,500. In Turkey, the estimated incidence rate is 1/3000. Cystic fibrosis affects the pancreas, liver, kidneys, intestines, and mostly the lungs. While it was defined as a fatal childhood disease in the last century, the life expectancy of patients today has prolonged significantly.

Newborn screening is critical in the diagnosis and detection of symptoms of cystic fibrosis. Signs and symptoms of cystic fibrosis vary depending on the severity of the disease. Symptoms may progress or regress over time even in the same person. In some patients, symptoms may not be observed until adolescence or adulthood. People with cystic fibrosis have a higher rate of salt in their sweat than normal people. Even when parents kiss their children, they may notice the excess salt in their sweat. The majority of other symptoms occur in the respiratory system or digestive system. However, atypical symptoms such as pancreatitis, diabetes, and infertility can also be present.

Symptoms due to the thick and sticky mucus obstructing the respiratory tract in cystic fibrosis:

  • Productive persistent cough
  • Stertorous respiration
  • Shortness of breath
  • Exercise intolerance
  • Recurrent lung infections
  • Non-healing sinusitis and nasal polyp

Digestive System Findings:

The pathway that carries digestive enzymes from the pancreas to the small intestine is blocked. After this blockage, we cannot use digestive enzymes. The symptoms that occur due to the inability to digest the food we eat are:

  • Foul-smelling, greasy stools
  • Growth retardation
  • Meconium ileus
  • Constipation


When should you see a doctor?

If your family or relatives have a history of cystic fibrosis, you can have your child tested in the neonatal period. If your child has difficulty breathing, please consult your doctor.


1- O'Sullivan, BP; Freedman, SD (30 May 2009). "Cystic fibrosis.". Lancet 373 (9678): 1891–904
2- Hodson, Margaret; Geddes, Duncan; Bush, Andrew, eds. (2012). Cystic fibrosis (3rd ed.). London: Hodder Arnold. p. 3.
3- Colin AA, Wohl MEB. Cystic fibrosis. Pediatr in Review 1994;15:192-200.
4- Conway SP, Pond MN, Watson A, Hamnet T. Knowledge of adult patients with cystic fibrosis about their illness. Thorax 1996;51: 34-8.
5- Davidson DJ, Porteous DJ. The genetics of cystic fibrosis lung disease.Thorax 1998;53:389-97.
6- Durie PR. Pancreatitis and mutations of the cystic fibrosis gene. N Engl J Med 1998;339:687-8.
7- Kerem B, Rommens JM, Buchanon JA, et al. Identification of the cystic fibrosis gene: genetic analysis. Science 1989;245:1073-80.
8- Ramsey BW. Management of pulmonary disease in patients with cystic fibrosis. N Engl J Med 1996;335:179-88.
9- Rosenstein BJ, Cutting GR. The diagnosis of cystic fibrosis:a consensus statement. J Pediatr 1998;132:589-95. 8- Wilson R, Dowling RB. Pseudomonas aeruginosa and other related species.Thorax 1998;53:213-9.
10- What is cystic fibrosis? National Heart, Lung, and Blood Institute. Accessed March 23, 2015.
11- Goldman L, et al. Cystic fibrosis. In: Goldman's Cecil Medicine. 24th ed. Philadelphia, Pa.: Saunders Elsevier; 2012. Accessed March 23, 2015.
12- Kliegman RM, et al. Cystic fibrosis. In: Nelson Textbook of Pediatrics. 19th ed. Philadelphia, Pa.: Saunders Elsevier; 2011. Accessed March 23, 2015.
13- Cystic fibrosis. National Library of Medicine. Accessed March 23, 2015.
14- What is bronchiectasis? National Heart, Lung, and Blood Institute. Accessed March 23, 2015.
15- Cohen-Cymberknoh M, et al. Managing cystic fibrosis: Strategies that increase life expectancy and improve quality of life. American Journal of Respiratory and Critical Care Medicine. 2011;183:1463.
16- Rogan MP, et al. Cystic fibrosis transmembrane conductance regulator intracellular processing, trafficking, and opportunities for mutation-specific treatment. Chest. 2011;139:1480.
17- Mogayzel PJ, et al. Update in cystic fibrosis 2010. American Journal of Respiratory and Critical Care Medicine. 2011;183:1620.
18- AskMayoExpert. Cystic fibrosis. Rochester, Minn.: Mayo Foundation for Medical Education and Research; 2014.
19- Katkin JP. Cystic fibrosis: Clinical manifestations and diagnosis. Accessed March 23, 2015.
20- Wenstrom KD. Cystic fibrosis: Prenatal genetic screening. Accessed March 23,2015.
21- Simon RH. Cystic fibrosis: Overview of the treatment of lung disease. Accessed March 23, 2015.
22- Pianosi PT (expert opinion). Mayo Clinic, Rochester, Minn. June 30, 2015
23- Colombo C, et al. Guidelines for the diagnosis and management of distal intestinal obstruction syndrome in cystic fibrosis patients. Journal of Cystic Fibrosis. 2011;10(suppl):S24.
24- Use the right GI medications. Cystic Fibrosis Foundation. Accessed July 1, 201