Cystic fibrosis: What are the symptoms, how is it inherited

Δημοσιεύθηκε από: Aggeliki Giannopoulou Κατηγορία: Category On:

Cystic fibrosis: What are the symptoms, how is it inherited

It is caused by the mutation of a seventh chromosome gene and affects many vital organs and systems of the human organism.

The main feature of the disease is the appearance of particularly viscous and dehydrated secretions in various organs and body glands, resulting in the gradual destruction of vital organs and ultimately their inadequacy.

Genetic anomaly

Only in 1989 was the gene associated with Cystic Fibrosis found and the most common gene abnormality or mutation was found, and has an incidence of about 70% in North America.
According to cysticfibrosis.gr, Greece is estimated to be between 50% and 55%. Since then, nearly 2000 such mutations have been discovered that cause Cystic Fibrosis.

This gene is responsible for producing a protein that controls the passage of chlorine from the membranes of the epithelial cells of various organs of the body, such as the lungs, the pancreas, the sweat glands and the intestine.

Dysfunction of the gene results in problematic production or function of the protein, resulting in the organs being produced by the epithelium viscous and sticky mucus that blocks the glands or conduction glands in them.

For example, in the lungs mucus blocks the airways, resulting in frequent microbial infections and immune responses that lead to the secretion of more mucus, which in turn favors the establishment of microbes, thus creating a vicious circle.

The pancreas prevents the production of enzymes necessary for food digestion. The sweat glands produce very salty sweat, which creates serious dehydration risks, but at the same time it helps in the safe diagnosis of the disease through the sweat test.

How it is inherited

It is a genetic disorder - therefore non-transmissible - that patients carry since their birth, having inherited two pathological genes of Cystic Fibrosis, one from each of their parents.

Individuals with a single pathological gene are called genomic vectors and are considered to be perfectly healthy.
For the birth of a child with Cystic Fibrosis, both parents must be carriers or patients.

Frequency

It is estimated that about 50-60 children a year are born in Greece with cystic fibrosis. About 500,000 Greeks are carriers.
In our country there are estimated to be over 800 patients, while the most frequent gene mutation observed in

Greece is characterized as f508del or ΔF508, which is considered to be the most heavily symptomatic mutations.
 From the point of view of the birth of new sufferers, Cystic Fibrosis is by far the most widespread hereditary disease in Greece.

In a wholly paradoxical way, it is a disease rather unknown to public opinion, and even among doctors, the picture of the disease is vague or obsolete.

Symptoms & Impacts

Cystic Fibrosis] affects various organs of the body. The main symptoms are respiratory, digestive-gastrointestinal and reproductive system.

There is a wide variety in the appearance and severity of problems in patients. Each patient is affected differently.
Critical to the course of the patients are the complications of the respiratory system that over time destroy the lung tissue, having the overwhelming majority among the causes of the disease mortality.
Other common symptoms are salty sweat with severe risk of dehydration, pancreatic insufficiency and other gastrointestinal problems.

There are some effects on the reproductive system in men, and in some cases there may be a form of diabetes, heart problems, severe liver problems, pancreatitis, osteoporosis-osteopenia, rheumatoid arthritis, nasal polyps and various other complications.

Treatment

From the time of diagnosis, a Cystic Fibrosis patient should be followed by a qualified physician and hospitalized in a specialized Cystic Fibrosis Center.

The daily struggle of patients requires commitment and discipline and aims at preserving in the best possible condition the lungs and their body in general, with care and therapies, the main aim of which is the prevention and treatment of respiratory infections leading to respiratory insufficiency.
 
The Cystic Fibrosis patient is given daily thoracic physiotherapy and takes in-person or even permanent medication in inhaled or oral form of pancreatic enzymes, vitamins, dietary supplements, adhering to a strict medical care protocol.
 Also from time to time hospitalizations are required in the hospital, usually for intravenous treatment.

For patients with Cystic Fibrosis that are in the final stages of respiratory failure, the only solution is lung transplantation, if their listing is approved and the appropriate graft is found in time, through lengthy and costly procedures.

To date, lung transplants can only be done in foreign centers.
Prospects for the future
Cystic Fibrosis patients and their families, in terms of medical developments about the disease, have every reason today to face the future with optimism.

Huge amounts are spent each year to fund research into new cystic fibrosis treatments.
And even if the radical cure of Cystic Fibrosis proved to be impossible, the hope is that, with the advancement of Medicine, the disease will gradually become a lethal - or even life-limiting - disease in a simple discomfort for the sufferers.

Source: organiclife.gr

Σχόλια

Αφήστε το σχόλιο σας