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.
