FIRST STEPS IN THE DIAGNOSIS OF MUCOSTIC FIBROSIS

Establishing a diagnosis of cystic fibrosis (cystic fibrosis) in a patient.

If you or your child has the symptoms listed below, you need to go to the hospital, to establish or refute the diagnosis of cystic fibrosis:

a) one or more symptoms that are characteristic of cystic fibrosis (Meconial ileus. The skin has a constant salty taste. Delay in physical development (height, weight). Frequent cough with or without purulent sputum. Recurrent or chronic pneumonia. Irregular, oily and smelly stool . Chronic diarrhea. Prolapse of the rectum. Deformation of the fingers in the form of “drumsticks”.)

b) you have a positive result of neonatal screening. Screening for genetic diseases, including cystic fibrosis, is carried out for a newborn baby in the maternity hospital;

c) if you have relatives with a confirmed diagnosis of cystic fibrosis.

Further examination is required to finally confirm or refute this diagnosis. It should be noted that when the patient has the correct diagnosis, this is the key to appropriate treatment. This helps not only to extend life, but also to significantly improve its quality.

So where to start?

If the result of the neonatal screening turned out to be positive, you must be contacted by the pediatrician or family doctor with whom you signed the declaration. He must issue a referral to a specialist who deals with the diagnosis and treatment of cystic fibrosis in your area (addresses of medical institutions are located in the Useful information section) This can be a geneticist, a pulmonologist, an endocrinologist, a gastroenterologist or an immunologist.

If you have one or more symptoms of cystic fibrosis and decide to see a pediatrician or family doctor yourself, the doctor must also give a referral to a specialist.

A cystic fibrosis specialist begins a thorough examination to confirm or deny the diagnosis. The final diagnosis is established if at least one of the following diagnostics shows a positive result:

• Sweat test for sweat chloride content. Usually three series of tests are conducted. The result is considered positive if the salt content is more than 60m/mol. If the first and second tests are positive, then the third may not be prescribed.
• Determination of pancreatic elastase activity in feces.
• Genetic test for mutation detection.

We emphasize: to confirm the diagnosis, it is enough when even just one of these tests has a positive result. If you or your child is diagnosed with cystic fibrosis, you will be asked to undergo a more detailed examination.

• Blood and sputum tests (as prescribed by the leading specialist);
• Ultrasound of the organs of the abdominal cavity (on the appointment of the leading specialist);
• CT scan of the lungs and sinuses (as prescribed by the leading specialist);
• Consultations with narrow specialists: ENT, gastroenterologist, endocrinologist, cardiologist, etc. (as appointed by the leading specialist).

Based on the results of the examination, official clear recommendations (conclusions) will be provided regarding medication support, nutrition, daily schedule, etc.

What to do after receiving a diagnosis of cystic fibrosis?

Patients with a confirmed diagnosis of cystic fibrosis have the right to social benefits and the provision of life-saving medicines at the expense of the state and city budgets. First of all, the patient must obtain the status of a person with a disability:

• The specialist who made the final conclusion must provide recommendations for passing the LKK (medical and advisory commission) for a child, or MSEK (medical and social examination) for an adult patient.
• With a recommendation from a specialist, you need to go to your family doctor or pediatrician for a referral to undergo LKK or MSEK.

It is at the meeting of the LKK or MSEK that you or your child receives the status of a person with a disability. Next, with the approved opinion, you need to contact the social security administration or the pension fund. You will be registered, a certificate will be issued and a disability pension will be awarded.

At the same time, after receiving the opinion of LKK or MSEK, you need to contact your family doctor again. On the basis of all documents and a medical report from a leading specialist, you will be able to request the provision of vital medicines at the expense of the state and city budgets. Some drugs are provided to patients with cystic fibrosis thanks to centralized state procurement (creon, pulmozyme, colomycin). Others receive at the expense of city budgets.

In case of confirmation of the diagnosis of cystic fibrosis, we suggest contacting the head of the branch of the All-Ukrainian Association of Cystic Fibrosis Care in accordance with the region in which you live. You can find contact information in the “Structure of the Association” section