Introduction: Progeria is a rare autosomal dominant genetic disease characterized by premature aging in children. Also known as Hutchinson-Gilford syndrome, people suffering from it start showing several features such as very low weight, scleroderma, osteoporosis, and loss of hair within one year of age. Methods: A 5-month-old boy presented with hard skin since born and later showed nodules of different sizes with a lack of subcutaneous fat, associated with joint rigidity.
Results: Skin biopsy reveals scleroderma form appearance. Exome
study confirmed the diagnosis of progeria, with a positive PCNA gene.
Discussion: In recent years, Lonafarmib has given hope to progeria
patients, increasing the rate of weight gain and decreasing vascular stiffness,
bone structure, and audiological status in some children. Under a clinical
trial, a new drug called progerinin has the main objective of reducing the
vascular rigidity in association with lonafarmib. This association is the big
hope for patients suffering from progeria.
Author
(s) Details
Jorge Sales Marques
Hospital Cuf Porto, Portugal.
Please see the book here:- https://doi.org/10.9734/bpi/msraa/v1/5014
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