User:Mr. Ibrahem/Progeria
Progeria | |
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Other names | Hutchinson–Gilford progeria syndrome (HGPS),[1] progeria syndrome[2] |
A young girl with progeria (left). A healthy cell nucleus (right, top) and a progeric cell nucleus (right, bottom). | |
Pronunciation | |
Specialty | Medical genetics |
Symptoms | Growth delay, short height, small face, hair loss[1] |
Complications | Heart disease, stroke, hip dislocations[1] |
Usual onset | 9–24 months[1] |
Causes | Genetic (autosomal dominate)[1] |
Diagnostic method | Based on symptoms, genetic tests[1] |
Differential diagnosis | Hallermann–Streiff syndrome, Gottron's syndrome, Wiedemann–Rautenstrauch syndrome[1] |
Treatment | Mostly symptomatic[1] |
Medication | Lonafarnib[5] |
Prognosis | Average age at death is 13 years[1] |
Frequency | 1 in 6 million births[1] |
Progeria is a genetic disorder in which symptoms resembling early aging occur in childhood.[1] Symptoms generally become apparent between 9 to 24 months of age with decreased growth, small face, and hair loss.[1] Those affected generally die between the age of 8 and 21 years old from heart disease.[1]
The cause is usually a new mutation to a gene that produces the lamin A protein.[1] After having one affected child, the chance of the next child being affected is as high as 3%.[1] It is a type of progeroid syndromes.[1][6] Diagnosis is based on symptoms and confirmed by genetic testing.[1]
Treatment is mostly symptomatic.[1] The medication lonafarnib was approved to treat progeria in 2020.[5] About 1 in 6 million people born are affected.[1] Males and females are affected equally frequently.[1] Progeria was first described in 1886 by Jonathan Hutchinson and 1897 by Hastings Gilford.[1]
References[edit]
- ^ a b c d e f g h i j k l m n o p q r s t u "Hutchinson-Gilford Progeria". NORD (National Organization for Rare Disorders). Retrieved 28 November 2020.
- ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
- ^ "Definition of progeria | Dictionary.com". www.dictionary.com. Retrieved 28 November 2020.
- ^ "Progeria". The Free Dictionary. Retrieved 28 November 2020.
- ^ a b Commissioner, Office of the (23 November 2020). "FDA Approves First Treatment for Hutchinson-Gilford Progeria Syndrome and Some Progeroid Laminopathies". FDA. Retrieved 28 November 2020.
- ^ Ramírez, CL; Cadiñanos, J; Varela, I; Freije, JM; López-Otín, C (January 2007). "Human progeroid syndromes, aging and cancer: new genetic and epigenetic insights into old questions". Cellular and molecular life sciences : CMLS. 64 (2): 155–70. doi:10.1007/s00018-006-6349-3. PMID 17131053.