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Cystic Fibrosis

By Demi Mammoliti

Name of Disorder

CF

Cystic Fibrosis of Pancreas

Fibrocystic Disease of Pancreas

Mucoviscidosis

Name of Disorder

History

History of Name

  • 1938
  • Autopsy of Malnourished infants
  • Dorothy Anderson

Type of Genetic Disorder

Inherited Disease

Autosomal Recessive Pattern

Mutations in the CFTR gene on chromosome 7

Type of Genetic Disorder

Genetics Graphic

Genetics Graphic

Symptoms and Effects of Cystic Fibrosis

Symptoms and Effects

List of Symptoms and Effects

Respiratory Signs and Symptoms

  • Persistent cough producing thick mucus
  • Wheezing
  • Breathlessness
  • Exercise intolerance
  • Repeated lung infections
  • Inflamed nasal passages

Digestive Signs and Symptoms

  • Foul-smelling, greasy stools
  • Poor weight gain and growth
  • Intestinal blockage
  • Severe constipation

Diagnosis of Cystic Fibrosis

Diagnosis

Newborn Screening

Blood Tests

Chest x-rays

Pulmonary Function Tests

Sweat (Chloride) Tests

Genetic Tests

Prognosis

Life Expectancy in Australia - 38yrs

Survival Rate for Children - 50%

Limitations based on treatment times.

Prognosis

Psychological and Social Problems

Psychological and Social Problems

  • Children often smaller and thinner than their peers - Impact on body image.
  • Puberty and menstruation may be delayed.
  • Anxiety, insecurity, or depression because of the lack of control of certain aspects of lives.
  • Family, friends, and caregivers experience the emotional impact of cystic fibrosis.

Treatment/Medication

Currently no cure for cystic fibrosis.

Treatment/Medications

There is treatment that aims to slow progression and reduce side effects.

Treatments

Types of Treatments

  • Chest Physiotherapy
  • Medications for CFTR protein
  • Antibiotics
  • Inhalations (easier to breathe)
  • Enzyme Replacement Capsules
  • Balanced Diet (appropriate nutrients and improve overall health)
  • Transplant

References

U.S. National Library of Medicine. (2019). Cystic Fibrosis. Retrieved from https://ghr.nlm.nih.gov/condition/cystic-fibrosis#

Davis, P. (2005). Cystic Fibrosis Since 1938. Retrieved from https://www.atsjournals.org/doi/full/10.1164/rccm.200505-840OE

Shaffer, C. (2019) Cystic Fibrosis History. Retrieved from https://www.news-medical.net/health/Cystic-Fibrosis-History.aspx

Cystic Fibrosis Foundation. (Unknown). CF Genetics: The Basics. Retrieved from https://www.cff.org/What-is-CF/Genetics/CF-Genetics-The-Basics/

BC Campus. (Unknown). Patterns of Inheritance. Retrieved from https://opentextbc.ca/anatomyandphysiology/chapter/28-7-patterns-of-inheritance/

Mayo Clinic. (2019). Cystic Fibrosis Symptoms. Retrieved from https://www.mayoclinic.org/diseases-conditions/cystic-fibrosis/symptoms-causes/syc-20353700

Better Health. (2018). Cystic Fibrosis. Retrieved from https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/cystic-fibrosis-cf

Stanford Children’s Health. (2019). Diagnosis of Cystic Fibrosis. Retrieved from https://www.stanfordchildrens.org/en/topic/default?id=diagnosis-of-cystic-fibrosis-90-P02931

Mayo Clinic. (2019). Cystic Fibrosis Diagnosis. Retrieved from https://www.mayoclinic.org/diseases-conditions/cystic-fibrosis/diagnosis-treatment/drc-20353706

Livingston, F. (2014). Cystic Fibrosis. Retrieved from https://kidshealth.org/en/teens/cystic-fibrosis.html

Unknown. (2019). Cystic Fibrosis and Emotional Wellness. Retrieved from https://cysticfibrosisnewstoday.com/cystic-fibrosis-emotional-wellness/

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