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Cystic Fibrosis is a progressive (gets worse over time) and chronic (long-lasting) genetic disease that primarily causes damage to the lungs, sweat glands, reproductive system, and digestive system. In a healthy human body, mucus is generally thin and slippery. Its function is to trap bacteria and viruses that enter the lungs, then cilia, hairlike structures inside the lungs, sweep the contaminated mucus out of the mucus linings.  In contrast, patients of CF have mucus that is thick and sticky, thus the mucus linings of the sinuses, lungs, intestines, nose, mouth, throat, and stomach become clogged.  This causes lung airways to become blocked and pathogens to build up inside the lungs.

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CF symptoms include:    "

Very salty-tasting skin

Persistent coughing, at times with phlegm

Frequent lung infections including pneumonia or bronchitis

Wheezing or shortness of breath

Poor growth or weight gain in spite of a good appetite

Frequent greasy, bulky stools or difficulty with bowel movements

Male infertility"

CFRD (Cystic Fibrosis-related Diabetes)

The existence of salty sweat and skin is due to the defects of the CFTR protein, thus, the inability for chloride to be transported around the body. Therefore, the chloride is excreted through sweat which creates abnormally salty sweat for CF patients. The characteristic thick mucus in CF patients causes cilia inside the lungs to become unable to sweep the pathogen-filled mucus out of the mucus linings inside the lungs, thus, the buildup of pathogens and the decreased ability for air to travel through the lungs. This creates frequent lung infections and wheezing or shortness of breath.
The buildup of mucus in the pancreas leads to the inability for this organ to produce vital digestive enzymes, bicarbonate, and insulin that play into digestion, the absorption of nutrients  for the body, and assisting in the transport of glucose from the blood into the cells for energy. Thus, poor growth and weight gain and Cystic Fibrosis related Diabetes is common for CF patients. Additionally, mucus in CF patients can block the pancreatic duct which leads to the inability for enzyme to transport to the small intestines. Thus, poor digestion and greasy stool is common for CF patients. Male CF patients sometimes have an absence of vas deferens in the reproductive system. The vas deferens connects the epididymis (located behind the testes) to the penis. Thus, the absence of the vas deferens means the inability for the sperm to transfer during discourse. This is why male fertility occurs in CF patients. This condition is called the congenital bilateral absence of the vas deferens or CBAVD.
The severity of CF symptoms can vary throughout patients.

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Current research on Cystic Fibrosis include the development of a drug molecule to allow translation to continue  after a premature stop codon. This would ensure that the CFTR proteins would be made properly in protein synthesis even after a nonsense mutation of CF. Additionally, scientist have developed mRNA therapy, so that CFTR mRNA can be delivered and CFTR protein can be properly created despite CF mutations. However, since mRNA can degrade, there would need to be frequent dosages of mRNA in order for the patient's cells to be supplied with CFTR protein.  DNA therapy is also being developed, so that CFTR DNA can be transported through a vessel that delivers the CFTR DNA to the correct cell. This would allow CFTR mRNA and protein to be made properly with more or a long-lasting effect than mRNA therapy. An ultimate goal for scientist is to reverse the mutations in patients' own DNA or gene edit the mutation. The effects of gene editing would be permanent, thus it would act as an ultimate cure for CF patients.

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Cystic Fibrosis Foundation: This organization provides care for CF patients, leads and funds research for CF, and unites CF patients.
Website: cff.org
Email: info@cff.org
Phone Number: 800-344-4823

Boomer Esiason Foundation:
This foundation provides financial assistance towards families with members that need CF lung transplants.
Website: esiason.org
Email: info@esiason.org
Phone Number: 516-746-0077

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There is currently no cure for CF, however, there are treatments that can alleviate the severity of the symptoms. These treatments include:

Sodium Chloride: Sodium Chloride or table salt helps to increase the low levels of sodium in the body.

Antibiotics and Penicillin: CF patients are more susceptible to infection, so they have to take antibiotics to kill the bacteria.

Cough Medicine: cough medicine is capable of temporarily thinning the mucus in your lungs, thus clearing the airways. It can also block the cough reflex.

Postural Drainage: CF patients can bend or lie into a certain position in order to drain the mucus fluids out of the lungs.

Chest Wall Oscillation: a device that consistently presses onto your chest, so that the mucus can be temporarily removed from CF patients lungs.

The vest attached to this girl's chest is called chest wall oscillation.

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Cystic Fibrosis is caused by a gene mutation inside chromosome number 7 of the gene called CFTR or cystic fibrosis transmembrane conductance regulator. This gene functions in creating the CFTR protein which acts as protein channels inside  the mucus cell membranes for chloride ions to exit the cell into the mucus. The mutations for CF cause this CFTR protein to be either inexistent in the cell membrane or take on a distorted shape. Therefore, the conditions of the CFTR protein will lead to the decreased ability for chloride ions to exit the cell and the increased presence of other protein channels including the epithelial sodium protein channel. This protein channel  allows sodium to enter the cell. Because of the inability for CFTR to transfer chloride ions out of the cell and the increased activity of the epithelial sodium channel, CF patients have solute buildup inside their mucus cells. The buildup of solute inside these cells causes the natural transportation of water to the higher solute concentration through osmosis or in this case, the inside of the mucus cell. Therefore, the lack of water outside of the mucus cells creates a very thick and sticky texture for the mucus, which is the main characteristic in causing most of the symptoms of CF. CF is characterized by the term autosomal recessive. This means that the disease is inherited by a recessive copy of CF from each parent who are called carriers. The carriers only have one copy of the CF gene; thus, the cystic fibrosis mutation is not expressed. However, when two carriers mate and produce offspring, they create a 1 in 4 or 25% chance of a child inheriting CF.  There are 1700 founded gene mutations that can cause CF.  Scientists have categorized them into 5 classes including protein production mutations which are nonsense substitution mutations, protein processing mutations which are insertion and deletion mutations, gating mutations which are mutations that cause the protein channels to be locked, conduction mutations which are mutations that cause the shape of the channels to be distorted in shape, and insufficient protein mutations which are caused by missense substitution mutations and result in a lack of CFTR proteins at the cell membrane.

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mayoclinic.org. "Cystic Fibrosis." mayoclinic.org, Elsevier, 2020, https://www.mayoclinic.org/diseases-conditions/cystic-fibrosis/symptoms-causes/syc-20353700

cff.org. "About Cystic Fibrosis." cff.org, Bethesda, Maryland: Cystic Fibrosis foundation, 2020, https://www.mayoclinic.org/diseases-conditions/cystic-fibrosis/symptoms-causes/syc-20353700

medlineplus.gov. "Cystic Fibrosis." medlineplus.gov. Bethesda, Maryland: National Library of Medicine, 2020, https://www.mayoclinic.org/diseases-conditions/cystic-fibrosis/symptoms-causes/syc-203537

Fan, Amy. "What is cystic fibrosis? | Respiratory system diseases | NCLEX-RN | Khan Academy." Youtube, uploaded by khanacademymedicine, 5 September 2014, https://www.youtube.com/watch?v=ucbxYIVztz8&t=140s

"Cystic Fibrosis and the Mucociliary System." Youtube, uploaded by Medicurio, 19 October 2016, https://www.youtube.com/watch?v=eehsgyvm0SQ

"What is Cystic Fibrosis?" Youtube, uploaded by Demystifying Medicine, 24 November 2016, https://www.youtube.com/watch?v=k4U5wyPzxJE

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Cystic Fibrosis is found in 30,000 children and adults in the US out of 328.2 million American citizens. More than 70,000 people have CF out of the   7.8 billion population in the world. Cystic fibrosis is most common for the Caucasian population which holds 1 in 2500-3500 newborns having CF. Hispanic offsprings hold the statistic of 1 in 4000 to 10000 of having the disease.  1 in 15,000 to 20,000 of the African American offsprings have CF and 1 in 100,000 Asian offsprings have CF. According to these statistics, Caucasians score first and Asians score last in having CF.

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NBS or newborn screenings are used nationwide for many newborns. This screening is used to detect rare diseases and ensure that newborns instantly have proper care according to their conditions.  A neonatal heel blood drawing is performed for this screening. The blood is transferred onto a special filter paper card which contains the blood and the information of the baby. This card is sent to the labs to be tested. Additional testing includes the sweat chloride test which tests the chloride levels inside the sweat. An elevated salt level points towards CF.  Additionally, there are prenatal testings for CF. A thin needle is utilized to take a small sample of amniotic fluid from the fetus, so that the cells could be analyzed for a CF gene. This testing can be done as early as the 15th week of pregnancy.

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CF is not developed from a chromosomal insertion or deletion mutation, thus, the karyotype looks like a healthy male. There are 1700 founded gene mutations that can cause CF.  Scientists have categorized them into 5 classes including protein production mutations which are nonsense substitution mutations, protein processing mutations which are insertion and deletion mutations, gating mutations which are mutations that cause the protein channels to be locked, conduction mutations which are mutations that cause the shape of the channels to be distorted in shape, and insufficient protein mutations which are caused by missense substitution mutations and result in a lack of CFTR proteins at the cell membrane. The karyotype shown could fall under any of these classes of mutations. This karyotype shows a male cystic fibrosis patient.

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Because of the development of multiple treatments, the life span of CF patients has dramatically increased from the life-span in the 1950s of barely 5 years old to the current life-span of 44 years old.  Many CF patients are able to partake in regular school activities, get through college, and sometimes get a job. However, the progressive nature of CF can lead to many patients becoming disabled in their later years. Death is primarily caused by lung infections for CF patients.