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There are fewer than 1 million cases of cystic fibrosis in India. Being a genetic disorder, cystic fibrosis affects various parts of the body mainly lungs, pancreas, intestines, liver and kidneys. The disease is caused by a mutation in the gene which is responsible for affecting a protein that regulates the movement of salt in the cells. According to an article published in HSOA Journal of Pulmonary Medicine & Respiratory Research, the number of children born every year with Cystic Fibrosis may be 10,908, presuming incidence to be about 1 in 2,500 live births. In case of complicated cases, person with Cystic Fibrosis may have Bronchiectasis, Chronic Infections, Nasal Polyps, Hemoptysis, Pneumothorax and even infertility especially in males.
Approximately 97% men with cystic fibrosis have infertility. However, many medical researchers have found that these men are not sterile and can have children through assisted reproductive techniques such as IVF, Intracytoplasmic Sperm Injection (ICSI) and Cryopreservation. Throwing light on the problem, Dr. Priti Gupta, Consultant Fertility & IVF, First Step IVF Clinic says, “The reason for infertility among men with Cystic Fibrosis is congenital absence of vas deferens. Other factors as a result of CF such as zero/low sperm count, abnormally shaped sperms, or poor motility of the sperm. On the other hand, females with CF have thick cervical mucus which disrupts the process of ovulation, resulting in lack of menstruation.”
Cystic Fibrosis is an autosomal recessive disease caused due to mutations in Cystic Fibrosis Transmembrane Regulator (CFTR). Since it is a genetic disorder, it may pass on from one generation to the other. The disease affects people across the globe, however, it is most common in white people.
Depending on the severity of the disease, the symptoms of Cystic Fibrosis may vary. The person can have variant symptoms which may get worse over the period of time. To detect the disease, the doctors count on the following symptoms-
A Persistent cough with mucus, breathlessness, stuffy nose, wheezing, lung infection.
Foul-smelling, greasy stools, severe constipation, intestinal blockage, Other complications may include thinning of bones or osteoporosis, electrolyte imbalance or dehydration, increased heart rate, fatigue, weakness, and Low BP.
Although, CF doesn’t have any permanent cure but prevention can reduce the severity of complications. It is important to consult a doctor who will diagnose the problem using genetic and sweat tests for cystic fibrosis after you analyze the symptoms of pancreatitis, nasal polyps etc. In newborns, the screen procedure comprises of a blood test to check the level of (Immunoreactive Trypsinogen, or IRT) released by the pancreas. Sweat Chloride test, IRT test, Sputum Test, Chest X-Ray, CT Scan, and Pulmonary Function Tests (PFTs) are some important tests used to diagnose CF.
For the treatment of Cystic Fibrosis, medications such as multivitamins, mucolytic, pancreatic enzyme supplements are taken in order to treat and prevent lung infection and problems of pancreas, anti-inflammatory medications to lessen the swelling in the lungs, mucus–thinning drugs, inhalers to sooth the muscles around bronchial tubes.
This therapy is important to relieve congestion from the chest & remove all the mucus. It is done 4-5 time a day. Physical exercises is also a part of chest physical therapy. However, always make sure that you take guidance from your doctors.
Wherein nutritional counseling, physical exercises and breathing techniques are discussed with the patients. The main motive is to improve the health of the lungs.
Procedure such as nasal polyp removal, endoscopy, oxygen therapy, and even lung transplant is done depending upon the problem of the patient.
For men and women suffering from infertility due to CF, assisted reproductive techniques like IVF, Intracytoplasmic Sperm Injection (ICSI) and Cryopreservation are the best ways to treat infertility. Dr. Priti Gupta said, “Due to thick mucus in the women struggling with cystic fibrosis, it is difficult for the sperm to penetrate successfully to result in conception. Through IVF, we completely eliminate this process and extract the sperm & ovary separately & fertilize it under controlled conditions.” ICSI is another effective method and has been successful in 50% of the cases. Most women who have cystic fibrosis become pregnant without any difficulty.
Certain mechanic devices are used in this therapy. Devices such as breathing mask, vibrating vest and tube are used to treat cystic fibrosis.
In patients with severe breathing problems and complications, the lung transplant is the only option.
It's always recommended to take a second opinion with the experts.