Cystic Fibrosis Bryan Chua.

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Presentation transcript:

Cystic Fibrosis Bryan Chua

What is it? Cystic Fibrosis (CF) is an autosomal recessive genetic disorder that results from a frameshift mutation, which disrupts the normal function of the CFTR gene. CFTR gene (Cystic Fibrosis Transmembrane Conductance Regulator): Responsible for moving ions out through the cell membrane.

25% chance

Why is CFTR Important? It is usually found active in the epithelial cells. Important in lungs, stomach, liver, intestines etc. Pumps sodium and chloride ions out into the exterior. If it malfunctions, mucus will become thick and viscous, which is bad as it clogs up your digestive, respiratory, and in more severe cases, parts of the endocrine and reproductive systems. Lung

Symptoms Usually diagnosed at birth. Later Diagnosis Salty skin Can’t pass feces. Chronic coughing, pneumonia, bronchitis. Underweight. Physically weak. Later Diagnosis Usually when people realize they are infertile. Congenital absence of vas deferens, which is bad.

Systems Affected Respiratory Digestive Thick mucus causes a person to be more vulnerable to lung infections. People experience shortness of breath. Bad for sports. Other air passages clogged with mucus – can’t breathe. Digestive Newborns may experience abnormal bowel movement – can’t defecate. Mucus blocks pancreatic enzymes from leaving the pancreas into the intestines – that’s bad for your pancreas. Result: Poor digestive as there isn’t enough enzymes.

More problems Endocrine Reproductive Since pancreas is damaged, it may produce insufficient insulin and that may lead to diabetes. Cystic Fibrosis usually leads to many other health problems. Reproductive Almost all males with CF are infertile as they don’t have their vas deferens.

Life Expectancy Depends. A century ago, you won’t last if you had it. Can’t digest, breathe, and maintain other bodily functions well. Usually die while still an infant. Rarely make it to adulthood. Now Modern medicine has greatly prolonged the life expectancy BUT it is still very low... mid 30s.

Dorothy Anderson: Named the Disease

Prevalence Alot. Autosomal recessive – many carriers in the population. Modern medicine – increased the survival and therefore the allelic frequency of the disease. Very common in Caucasian populations 1 in 31 Americans are carriers. 1/31 x 1/31 = 1/961 (estimate) – 0.001, 1 in 1000 Americans. Real: 30 000 affected / 300 000 000 people. Much Less Common in other races.

Treatment No cure. Transplants: lung, liver, pancreas etc. For rich people. Buy a new lung, but CF will still return. Gene Therapy (possible solution) Viruses with CFTR gene act as vectors and pass the CFTR gene to epithelial cells. Problem: Low rate of success, high cost. Assorted Medications Too many to list. Usually to unclog mucus, make breathing easier, help digestion etc. Insulin is also needed for many cases.

Works Cited "About Cystic Fibrosis: FAQs." Cystic Fibrosis Foundation. N.p., n.d. Web. 03 June 2013. <http://www.cff.org/AboutCF/Faqs/>. "Cystic Fibrosis." PubMed Health. U.S. National Library of Medicine, 16 May 2012. Web. 03 June 2013. <http:// www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001167/>. "Cystic Fibrosis." Children's Hospital of Pittsburg. UPMC, n.d. Web. 03 June 2013. <http://www.chp.edu/CHP/Cystic%20Fibrosis>. "Cystic Fibrosis." Learn.Genetics. The University of Utah, n.d. Web. 03 June 2013. <http://learn.genetics.utah.edu/content/ disorders/whataregd/cf/index.html>.