What is Cystic Fibrosis?

Cystic Fibrosis is a genetic disease giving severe harm to lungs, gastrointestinal system and other organs. It is caused by a mutation or a defective code of a protein (Cystic Fibrosis Transmembrane Conductance Regulator-CFTR) belonging to the cells which are responsible for secretive functions. Normally, the secretions of these cells are thin and slippery. This property provides lungs elasticity and lubricity to achieve easy breathing. However, in case of cystic fibrosis the secretion becomes more sticky and thick. This results in plugs and blockages of tubes, ducts and airways thus, affecting the transmission functions of secretion components (especally chlorine) of cells. Mucus starts to accumulate in organs, primarily lungs and pancreas,  preventing the functions of the related organs.

What is the incidence of Cystic Fibrosis?

Cystic Fibrosis is diagnosed in one of 2500-3000 newborns. 70000 affected patients have been announced worldwide. The child should carry at least one gene from each parent. If only one gene is affected, cystic fibrosis may not be diagnosed but the child would have the probability to carry the mutated gene to his child.

 What is the age to diagnose Cystic Fibrosis ?

In the early period after birth, the parents may feel a salty taste when kissed from a local sweated skin of the baby’s body. They may feel an oversmelling feces, delayed or absence of pooping after birth, growth retardation and prolonged newborn jaundice period.

In newborn screening tests, the  heel blood sample may be of a diagnostic criteria but if it is not diagnosed with a screening test, the symptoms may not appear until adulthood. The later the diagnose is, the more diffucult the treatment gets. Thus, it is always an advantage to diagnose  Cystic Fibrosis as early as possible in order to achieve effective treatment. The results of late treatment are recurrent pancreatitis, respiratory attacks, pneumonia, infertility and atypic symptomes.

What are the symptoms of Cystic Fibrosis?

Permanent coughing, disturbances in breathing, wheezing, sputum

Growh retardation, weight loss

Intolerance to exercise, fatique

Recurrent lung infections

Sticky nose and blockage in airways

Recurrent sinusitis

Dark, oversmelling sticky feces

Blockage of intestines of especially in newborns (meconium ileus)

Rectal prolapsus as a result of chronical constipation

Abdominal swelling and gastrointestinal gas disturbances

Bleeding disorders due to Vitamin K absorption deficiency

Bladder stones

Diabetes due to pancreatin dysfunction

How is Cystic Fibrosis diagnosed?

The early and simple  test is the Sweat test where chlorine is measured by means of an instrument placed on the baby’s arm and the collected sweat is measured for chlorine content. Values over 60 will be diagnosed as Cystic Fibrosis.

Other diagnostic examinations might be;

Genetic blood tests

Chest x-ray

Respiratory function tests

Sinus x -ray

Sputum and feces cultures.

How is Cystic Fibrosis treated?

It is not possible to treat Cystic Fibrosis but performing sypmtomatic treatments, relieving the patient’s clinical disturbances, preventing worse clinical dysfunctions will bring comfort to his living condutions. Because of  its primary harm to respiratory functions, treatments  for easier breathing, relieving passage flow and antibiotic treatments for frequent infections are performed.

Moreover, giving highly nutritive values of food end enzyme treatments for pancreatic functions are also useful.

Feces softening treatments for gastointestinal blockages, some surgical procedures to ease passage flow may be some other treatments accompanied by physiotheraphy sessions.

Why is early diagnosis of  Cystic Fibrosis important?

If diagnosed as early as possible, it will be possible to prevent permanent dysfunctions of other organs thus stabilizing the severe health problems due to Cystic Fibrosis and the living quality of the patient may be achieved. As a result this heel test has been included in the newborn screening parameters since the year 2005.

The physical observations of the  parents are also of great value for early diagnosis and treatment.

How is the Sweat Test for Cystic Fibrosis diagnosis made?

It is a very simple test. A watch like band is placed on the baby’s arm and the sweat is collected for approximately 60 minutes. Chlorine is measured by the instrument and the value above 60 is diagnosed as Cystic Fibrosis.