Signs and symptoms of cystic fibrosis

Signs and symptoms of cystic fibrosis

Cystic fibrosis is a genetic disorder also known by the name of mucoviscidosis, its main area of target is the lungs but it can also invade a patient’s pancreas, liver, kidneys and intestine. If left untreated, its long-term issues include difficulty breathing and coughing. This recessive autosomal disorder takes place because both the copies of genes which code for the protein CFTR (cystic fibrosis transmembrance conductance regulator). 

The people in which only one copy of the gene is working act as carriers and are most likely to live normal life but if both the copies are mutated, CTFR regulation collapses and this essential protein is responsible for production of sweat, digestive fluids, and mucus. Once the CTFR proteins stops functioning, the fluids secreted by these glands become thickened, and this disease can be diagnosed by taking sweat test as well as genetic testing.

Although it’s a universal fact that there is no permanent cure available for cystic fibrosis so far but the symptoms and signs like lung infections are treated by dosing patients with specific antibiotics either by mouth or intravenously.  Some commonly used antibiotics like azithromycin and salbutamol are the chief antibiotics used in this condition. The survival options in this disorder include lung transplantation, pancreatic enzyme replacement and dosage of adequate amount of fat soluble vitamins. 

The patients suffering from this disorder can expect the survival time of up to 50 years in developed countries. It’s also evident that the main cause of death in cystic fibrosis patients is the lung problem and has accounted for the death of 80% patients due to this problem. This genetic disorder is most rarely visible in Asia and Africa but in North European countries its most prominently found. Almost among three thousand newborns, one suffers from cystic fibrosis. 

Although the origin of this disease dates back to 1595 but for the first time ever it was independently recognized by Dorothy Andersen in 1938. It was tagged with the name of cystic fibrosis because it causes cysts and fibrosis in patient’s pancreas.

The signs and symptoms of cystic fibrosis aren’t same for everyone and the intensity of symptoms also varies from person to person. Some people might encounter very low intensity symptoms while as in some people symptoms make their life miserable. Cystic fibrosis can be detected in a new born baby by identifying if the skin of the baby tastes salty or whether the baby passed the stools or not at the time of birth. These are the basic and chief symptoms of Cystic fibrosis which start in a patient since birth and latter on the symptoms get worsened.

 Respiratory Issues:

Due to Cystic fibrosis, the mucous of patients become thick and blocks airways. The worst case scenario in this case is that the thickened mucous gets infected and results in coughing and thick spitting and sometimes bloody mucous comes out. The lung infections caused in patients suffering from Cystic fibrosis are caused mostly by mucoid pseudomonas and other lookalike bacteria which do not respond to dosed antibiotics. Thus, lung infection caused by these bacteria could be the indicator of Cystic fibrosis but it’s not a universal fact. Another main reason responsible for lung damage in cystic fibrosis patients is the acquiring of pneumonia and infection of sinusitis which are hollow airways connecting nose, eyes and forehead. As these conditions get worsened, the patient may acquired other serious diseases like pneumothorax, bronchiectasis and nasal growths which can only be removed by performing a surgery.
Digestive Issues:
Due to Cystic fibrosis, the thick mucus discharge can block tubes, or ducts, in your pancreas which in turn causes blockages preventing enzymes from entering your intestines which results in faulty absorption of fats and proteins by the intestines. A wide range of conditions can occur due to this problem including diarrhoea, sticky foul stools, patient may also suffer from pain and discomfort due to prolonged constipation. A characteristic sign of Cystic fibrosis in children is poor weight gain and growth due to faulty intestinal absorption as the intestinal enzymes are already being blocked by mucus filled in pancreas. The other conditions which can occur include inflammation of pancreas (Pancreatitis), outburst of rectal tissue (rectal prolapse), blockage of bile ducts, diabetes and gallstones.

Reproductive Issues:

The male patients suffering from Cystic fibrosis are infertile because vas deferens is absent in them. Vas deferens acts as a pathway which carries sperms from testes to penis. In case of females, getting pregnant couldn’t be an option because of the blockage caused by mucus to the cervix.

Other Signs and Symptoms:

Due to Cystic fibrosis, patient’s blood looses balance of minerals due to malfunctioned food absorption. That’s why the children are suffering from cystic fibrosis need to eat much more than normal kids do. Their food should contain extreme amount of every essential nutrient needed for proper body functioning. So, if a portion of food gets wasted due to troublesome digestive functioning, some amount will still get absorbed.

As the sweat discharged by the person is very salty, the body of the patient suffering from Cystic fibrosis suffers from dehydration, fatigues, increase in heart rate and in worst causes it can also cause heart stroke and rarely death.

When the Cystic fibrosis becomes much worsened in latter stages, it becomes hard for the lungs to make oxygen available in your blood which could reach finger tips and toes thus causing widening as well as rounding of tips and toe s along with low bone density which can ultimately lead to bone-thinning disorders like osteoporosis and osteopenia.

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