Introducing
Prezi AI.
Your new presentation assistant.
Refine, enhance, and tailor your content, source relevant images, and edit visuals quicker than ever before.
Trending searches
Loading…
Black Bone Disease
Transcript
FONTS
Black Bone Disease
Patients - 48 34 50 53
AKA, Alkaptornuria, AKU
- Patient 48 (18yr) - Normal, wide disk spaces
- Patient 34 (34yr) - Minimally narrowed disk spaces and calicification (arrow)
- Patient 50 (46yr) - Even more extensive calification and more marked narrowing at all visible disk spaces
- Patient 53 (62yr) - Similarly marked disk narrowing and calification as well as osseous ankylosis (immobility and consolidation of a joint. Can cause the bones to fuse together due to the loss of articular cartilage) at L1-L2 and L4-L5
New England Journal of Medicine Case Study
Symptoms
Pictures
- Black Bones/Cartilage/Urine
- Discolored ears are common
- Brittle Bones/Cartilage
- Joint pain
- mostly in the lower back, and other weight bearing joints
- Black spots in the eyes
- Heart problems
- HGA builds up in the heart valves and can turn the tissue black and brittle.
- Increase risk of stroke or heart disease
What is it?
- AKU is a genetic disease (recessive) in the HGO gene.
- It keeps the affected person's body from breaking homogentisic acid (HGA)
- The body naturally produces during the digestion of food.
- HGA builds up in the body and leads to the symptoms listed.
- AKU patients don't always know they have the disease until later years.
- Only 600 cases between 1962 and 2002
Citations
Treatments
- "Alkaptonuria." Wikipedia. N.p., 22 Nov. 2016. Web. 30 Nov. 2016.
- https://en.wikipedia.org/wiki/Alkaptonuria#Signs_and_symptoms
- "The Portal for Rare Diseases and Orphan Drugs." Orphanet: Alkaptonuria. N.p., Oct. 2014. Web. 30 Nov. 2016.
- http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=411&Disease_Disease_Search_diseaseGroup=Alkaptonuria&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Alkaptonuria&title=Alkaptonuria&search=Disease_Search_Simple
- "Alkaptonuria." National Institutes of Health. U.S. Department of Health and Human Services, n.d. Web. 30 Nov. 2016.
- https://rarediseases.info.nih.gov/diseases/5775/alkaptonuria
- "Alkaptonuria - NORD (National Organization for Rare Disorders)." NORD (National Organization for Rare Disorders). N.p., n.d. Web. 30 Nov. 2016.
- https://rarediseases.org/rare-diseases/alkaptonuria/
- "MENU." AKU Explained. N.p., n.d. Web. 30 Nov. 2016
- http://www.akusociety.org/aku-explained.html
- "Alkaptonuira." NEJM. New England Journal of Medicine, 2002. Web. 30 Nov. 2016.
- http://www.nejm.org/doi/pdf/10.1056/NEJMoa021736
- No cure
- Heart surgery
- Pain medicine
- Joint replacement
- Average of 5-10 replacements in the lifetime of a patient
Created by Ashley Erickson
Choose a template
Presentations from around the world
Learn more about creating dynamic, engaging presentations with Prezi