Cystic+Fibrosis

Overview: A deadly, genetic disorder that affects the lungs and digestive system. It is rare; less than 200,000 people in the country have this genetic disorder. The disease cannot be cured with treatment and can last years or a lifetime. Cystic Fibrosis (1) have an effect on the cells creating certain liquids such as mucus and sweat by clogging up the areas the fluids are secreted.

Signs and symptoms: Symptoms (2) may include constant lung infections, and in cases for men, inability to fertilize. There are other types of symptoms the diagnosed person may experience. The diagnosed patient may experience pain the abdomen, heartburn, diarrhea, severe constipation, pulmonary hypertension, sinusitis, delayed development, fatigue, and other symptoms. Signs people may notice are salty skin, coughing/wheezing, poor growth, inability to gain weight, coughing out blood or phlegm, and seborrhea.

Genetics: The genetic disorder (3) is a recessive trait. A person can be a carrier of this gene and pass it on to their kids; about 10 million people in the U.S. are carriers. Cystic Fibrosis is caused by Cystic Fibrosis Trans membrane conductance Regulator (CFTR) protein (4), which controls the amount of fluids and salt in the body. There (5) is a 25% chance the child will have Cystic Fibrosis, a 50% chance the child will be a carrier of the gene, and a 25% chance the child will not be a carrier or have Cystic Fibrosis. There needs to be two mutations in order for the child to have Cystic Fibrosis. The mutations affect chromosome 7 as one of the 23 pairs chromosomes inherited. Cystic Fibrosis is homozygous recessive. Any sex can receive and give the mutated gene equally.

Distribution: As mentioned above, the United States (6) is the most common place for Cystic Fibrosis to occur. It is rare for the disease to occur in Europe today.

Management and treatment (7): The treatment reduces the pain and symptoms. Newborn screenings are recommended before taking any action, if possible. Pneumococcal vaccine is a preventative for this disorder, so newborn screenings are highly recommended. Sodium chloride is used to help limit the sodium in the body. Antibiotics, dietary supplements, penicillin antibiotic, and cough medicine are forms of medication for Cystic Fibrosis. There are medications that can be injected, inhaled, or swallowed. Postural drainage is a form of self care that makes it simple to drain mucus from the respiratory area. A possible medical procedure is the chest wall oscillation that helps drain mucus from the lungs using technology. There is no cure for Cystic Fibrosis to treat Cystic Fibrosis. Cystic Fibrosis ends up frequently being fatal, and the average lifespan is 30 years.

 (Figure 1) Comparing a Cystic Fibrosis lung with a healthy lung.

Society and culture: Some people in society are dim-witted, and others are judgmental of people with Cystic Fibrosis or autosomal diseases. Often, they are treated differently. Sometimes, they do have people who care about them. They are loved and cared for by family and friends. There are examples in the videos below: media type="youtube" key="NmyZHMaHRs0" width="460" height="246" (Above: A diagnosed patient tells a story about his own experience with Cystic Fibrosis and how it affected his life.) (Below: A girl with an autosomal disease explains how society treats her.) media type="youtube" key="ayNZVcii6oA" height="259" width="465" Society and culture: This social problem can be worldwide, but it is mostly common in the U.S.

History: The disease originated from Europe and was brought to the United States. Mainland Europeans are carriers of Cystic Fibrosis. Cystic Fibrosis is theorized to have mutated through environmental factors such as dieting and exposure to high levels of poisonous metal (possibility of being arsenic). Cystic Fibrosis has been around since 1595, and scientists have been studying this genetic disorder since then. Cystic Fibrosis is shortened for Cystic Fibrosis Transmembrane conductance Regulator protein. Cystic Fibrosis was discovered (8) as a disease in 1948 by Dr. Paul di Sant’Agnese who observed the disease in infants. In the 1980s, CFTR was found as a gene in the disease. New ways to treatment have been produced. However, the United States has yet to adapt to these changes because the vaccine is not mandatory and is optional.

Miscellaneous: Albert Einstein had Cystic Fibrosis, which may have been the cause of his death. Bob Flanagan used his disorder, Cystic Fibrosis, for artistic inspiration.

Further Research: For more information on Cystic Fibrosis, click on this. For more information on autosomal diseases, click on this. For fun and more information about disorders like Cystic Fibrosis, click on this.

<span style="font-family: Arial,Helvetica,sans-serif;">References: <span style="font-family: Arial,Helvetica,sans-serif;">1. "About Cystic Fibrosis.” CF Foundation, Cystic Fibrosis Foundation, <[|https://www.cff.org/What-is-CF/About-Cystic-Fibrosis/__>] <span style="font-family: Arial,Helvetica,sans-serif;">2.“Cystic Fibrosis.” 11 Sept. 2017.<[]>

<span style="font-family: Arial,Helvetica,sans-serif;">3. “CF Genetics: The Basics.” CF Foundation, Cystic Fibrosis Foundation, <[]>

<span style="font-family: Arial,Helvetica,sans-serif;">4. Ferreira, Leonor Mateus. “Cystic Fibrosis Genetics | Inheritance Pattern of Cystic Fibrosis.” Cystic Fibrosis News Today, <[]>

<span style="font-family: Arial,Helvetica,sans-serif;">5. “GCSE Bitesize: Recessive and Dominant Alleles.” BBC, BBC, <[]>

<span style="font-family: Arial,Helvetica,sans-serif;">6. Farrell, Phillip M. “Current Activities.” Philip M. Farrell, MD, PhD: Cystic Fibrosis, CFTR, Newborn Screening, Pediatric, Respiratory Disease, Nutrition, University of Wisconsin Medical School, University of Wisconsin School of Medicine and Public Health, 18 May 2010, <[]>

<span style="font-family: Arial,Helvetica,sans-serif;">7. Winikates, Kristina. “The Embryo Project Encyclopedia.” "Sources of Human Psychological Differences: The Minnesota Study of Twins Reared Apart" (1990), by Thomas J. Bouchard Jr, David T. Lykken, Matthew McGue, Nancy L. Segal and Auke Tellegen | The Embryo Project Encyclopedia, Arizona Board of Regents, 1 Jan. 2012, []>

<span style="font-family: Arial,Helvetica,sans-serif;">8.Nick, Jerry A. “Cystic Fibrosis: History.” National Jewish Health, National Jewish Health, 1 Apr. 2012, <[|https://www.nationaljewish.org/conditions/cystic-fibrosis-cf/history>]