Hutchinson-Gilford Progeria Syndrome: Difference between revisions
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== Brief Background == | === Brief Background === | ||
This is a rare disorder that is characterised by premature | This is a rare disorder that is characterised by premature ageing <ref>Pollex,R.L.,Hegele,R,A."Hutchinson–Gilford progeria syndrome"Clinical Genetics Volume 66, Issue 5, pages 375–381, November 2004</ref>. The syndrome was discovered by Jonathan Hutchinson and Hastings Gilford <ref>Progeria Research Foundation (2011). “About Progeria” (http://www.progeriaresearch.org/about_progeria.html), [last viewed: 11th November, 2011]</ref> and it occurs in 1 in 8 million people. | ||
== Cause == | === Cause === | ||
It is due to a completely random point mutation at the 1824th position of the [[Lamin A|Lamin A]] protein leading to the substitution of thymine with [[ | It is due to a completely random point mutation at the 1824th position of the [[Lamin A|Lamin A]] protein leading to the substitution of thymine with [[Cytosine|cytosine]] <ref>Brown, W.T.,Kliegman, R.M., Behrman, R.E., Jenson, H.B., Stanton, B.F., eds. (2007) “Progeria”. Nelson Textbook of Pediatrics 18th Ed. Philadelphia, Pa: Saunders Elsevier; chap 90</ref>. It is said to be completely random as there is no specific tribe or race associated with it. It has been discovered in patients across the globe. Although there is no current evidence that the syndrome can be inherited there is a family in India that all the children have the syndrome. | ||
== Symptoms == | === Symptoms === | ||
#[[Alopecia|Alopecia]] | #[[Alopecia|Alopecia]] | ||
#Delayed tooth formation | #Delayed tooth formation | ||
#[[Scleroderma|Scleroderma]] | #[[Scleroderma|Scleroderma]] | ||
#[[Macrocephaly|Macrocephaly]] | #[[Macrocephaly|Macrocephaly]] | ||
#Prominent scalp veins | #Prominent scalp veins | ||
#Bulging eyes | #Bulging eyes | ||
| Line 18: | Line 18: | ||
#Growth failure | #Growth failure | ||
#Loss of muscles and body fat | #Loss of muscles and body fat | ||
#Progressive cardiovascular diseases | #Progressive cardiovascular diseases | ||
#Progressive [[ | #Progressive [[Atherosclerosis|atherosclerosis]] | ||
#Death | #Death <ref>Gordon, L.B., Brown T.W., Collins, F.S. (2003). “Hutchinson-Gilford Progeria Syndrome”. Gene Reviews (http://www.ncbi.nlm.nih.gov/books/NBK1121/), [last viewed: 05th April, 2011]</ref> | ||
== Treament == | === Treament === | ||
Drugs - [[ | Drugs - [[Pravastatin|pravastatin]] and [[Zoledronate|zoledronate]] | ||
Pravastatin helps to prevent cardiovascular-related diseases while zoledronate helps to prevent skeletal fractures in patients<ref>Clinical Trials. (2010) http://clinicaltrials.gov/ct2/show/NCT00731016</ref>. | |||
== Reference list == | === Reference list === | ||
<references / | <references /> | ||
Latest revision as of 08:54, 18 November 2017
Brief Background
This is a rare disorder that is characterised by premature ageing [1]. The syndrome was discovered by Jonathan Hutchinson and Hastings Gilford [2] and it occurs in 1 in 8 million people.
Cause
It is due to a completely random point mutation at the 1824th position of the Lamin A protein leading to the substitution of thymine with cytosine [3]. It is said to be completely random as there is no specific tribe or race associated with it. It has been discovered in patients across the globe. Although there is no current evidence that the syndrome can be inherited there is a family in India that all the children have the syndrome.
Symptoms
- Alopecia
- Delayed tooth formation
- Scleroderma
- Macrocephaly
- Prominent scalp veins
- Bulging eyes
- High pitched voice
- Growth failure
- Loss of muscles and body fat
- Progressive cardiovascular diseases
- Progressive atherosclerosis
- Death [4]
Treament
Drugs - pravastatin and zoledronate
Pravastatin helps to prevent cardiovascular-related diseases while zoledronate helps to prevent skeletal fractures in patients[5].
Reference list
- ↑ Pollex,R.L.,Hegele,R,A."Hutchinson–Gilford progeria syndrome"Clinical Genetics Volume 66, Issue 5, pages 375–381, November 2004
- ↑ Progeria Research Foundation (2011). “About Progeria” (http://www.progeriaresearch.org/about_progeria.html), [last viewed: 11th November, 2011]
- ↑ Brown, W.T.,Kliegman, R.M., Behrman, R.E., Jenson, H.B., Stanton, B.F., eds. (2007) “Progeria”. Nelson Textbook of Pediatrics 18th Ed. Philadelphia, Pa: Saunders Elsevier; chap 90
- ↑ Gordon, L.B., Brown T.W., Collins, F.S. (2003). “Hutchinson-Gilford Progeria Syndrome”. Gene Reviews (http://www.ncbi.nlm.nih.gov/books/NBK1121/), [last viewed: 05th April, 2011]
- ↑ Clinical Trials. (2010) http://clinicaltrials.gov/ct2/show/NCT00731016