A Case Report of Hutchinson-Gilford Progeria Syndrome
نویسندگان
چکیده مقاله:
Hutchinson-Gilford Progeria Syndrome (HGPS), a rare genetic condition occurs one in every 8 million live births. HGPS is characterized by premature aging in various organs. The average survival rate of the affected patients is 13 years, and their most common causes of death are myocardial infarction and stroke. This disease occurs due to a gene mutation in the chromosomes of the patient. There is no definitive treatment for progeria, and most patients die at the age of 8 to 10 years. Scientists are interested in identifying this syndrome, as it may reveal the signs of a natural aging process at an early age. The studied patient was older than the global average with no cardiovascular disease and suffered from appendicitis.
منابع مشابه
Hutchinson-Gilford Progeria Syndrome
The Hutchinson-Gilford syndrome or progeria is a laminopathy generated by mutations that affect LMNA gene. This produces an abnormal protein named progerine which alters the formation of the cellular membrane inducing premature aging of all cells. In the present review aspects related to the pathophysiology and clinical characteristics of this syndrome are shown.
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Hutchinson-Gilford Progeria Syndrome (HGPS) is a lethal congenital disorder, characterised by premature appearance of accelerated ageing in children. Although HGPS was first descri‐ bed by Jonathan Hutchinson [1] and then by Hastings Gilford [2] more than a century ago, it was not until 2003 that the genetic basis of HGPS was uncovered [3, 4]. Approximately 90% of HGPS patients have an identica...
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عنوان ژورنال
دوره 23 شماره 1
صفحات 84- 91
تاریخ انتشار 2019-03
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