Statistically, up to 95% of men affected by cystic fibrosis can be sterile. This is because the vas deferens that obstruct the sperm from the testicles are blocked because of thick mucus deposits or the complete absence of these tubular structures. You can learn more about infertility in cystic fibrosis in our article.
Statistically, up to 95% of men affected by cystic fibrosis can be sterile. This is because the vas deferens that obstruct the sperm from the testicles are blocked because of thick mucus deposits or the complete absence of these tubular structures. You can learn more about infertility in cystic fibrosis in our article.
There may not be any spermatozoa in the sperm of man with a cystic disease
We are talking about azoospermia. The main reason for this is that cystic fibrosis disrupts chloride ion transport in the body. This causes mucus retention, including in the vas deferens, which blocks sperm movement and causes a decrease in fertility. fertility. In addition, many men with cystic fibrosis also have unilateral or bilateral lack of vas deferens. In most cases, however, the process of spermatogenesis is not disturbed, spermatozoa are constantly being produced, and with simple surgery they can be obtained directly from the testicles and used to fertilize the eggs.
Semen analysis – basic fertility examination for men with cystic fibrosis
To diagnose infertility, the patient is directed to an urological and andrological consultation. Semen sample is examined and semen analysis is performed (a standardized analysis determining semen parameters). This allows the quality of semen and spermatozoa contained in it to be assessed (e.g. concentration, motility, sperm structure). To be able to make the final diagnosis, this test should be done at least twice.
Where cystic fibrosis comes from?
Cystic Fibrosis is a consequence of CFTR gene mutations located on chromosome 7.
It is responsible for the production of channel protein that regulates chloride ion flow through epithelial cells. The genetic mutation produces an abnormal protein. As a result, the electrolyte composition of mucus in the body changes and thickens.
And it is this highly concentrated mucus that clogs the ducts of all exocrine glands. It is worth knowing that cystic fibrosis belongs to systemic diseases. In addition to the respiratory system, this disease also affects the digestive and reproductive systems – damages the pancreas, leads to cirrhosis hepatis and can affect fertility (statistically, only 3% of men affected by cystic fibrosis are fertile). However, the development of assisted reproduction techniques means that men with cystic fibrosis can still have children. That is why, they should go to a fertility clinic with their partner.
Cystic fibrosis one of the most common genetic diseases
It is believed that every 35th person in Poland is the carrier of the genetic mutation responsible for cystic fibrosis – with the disease manifesting only in people who inherited a damaged copy of the CFTR gene from both parents. The risk that a couple in which both parents are carriers of the damaged gene will give birth to a child with cystic fibrosis is 25%. This risk is constant, does not change or increases in subsequent pregnancies. It also does not depend on age or any other factors. Parents are therefore not least responsible for its creation.
Cough, shortness of breath, chronic bronchitis – respiratory symptoms
In cystic fibrosis predominate respiratory symptoms. W przebiegu mukowiscydozy dominują objawy ze strony układu oddechowego. Over 90% of patients complain of wheezing and a troublesome cough, and sometimes also breathing problems. The mucus present in the lungs create ideal conditions for the development of bacteria that gradually destroy the lungs and bronchi. As a result, patients are more likely to develop infections, including pneumonia, bronchitis and bronchiolitis. Nasal polyps and sinusitis are also more common.
Liver and pancreas failure – digestive system symptoms
Thick, sticky mucus will block the pancreatic ducts, causing digestive and intestinal absorption disorders. In addition, 95% of patients have pancreatic insufficiency. The liver is another important organ that cystic fibrosis destroys. About 4-5% of patients develop biliary cirrhosis, which is associated with bile duct obstruction.
Salty sweat is another characteristic symptom of cystic fibrosis. This symptom is the result of an increased content of sodium chloride in sweat.
Cystic fibrosis diagnostics
In the diagnosis of cystic fibrosis, the patient’s clinical symptoms are first taken into account. Then the so-called “Sweat tests” to confirm the high concentration of sweat chloride anions. Due to the genetic background of cystic fibrosis, an important element of diagnostics is also a DNA test. It is performed to identify mutations in both copies (alleles) of the CFTR gene.
Cystic fibrosis treatment
Although we cannot cure cystic fibrosis yet, thanks to the intensive development of medicine, we already know how to slow down its progression and alleviate the symptoms. A person affected by cystic fibrosis should be led by many specialists. Patients are given mucolytics, which make the secretion less thick and sticky (these drugs liquefy it, facilitating expectoration). Drug treatment is supported by respiratory physiotherapy, which consists of various types of breathing exercises and inhalations. Patients with chronic lung and bronchial infections are treated with antibiotics.
