Progeria
| Subclass of | autosomal dominant disease, progeroid syndrome, malformation syndrome with skin/mucosae involvement, primary osteolysis, syndrome  |
|---|---|
| Health specialty | endocrinology |
| Genetic association | LMNA |
| ICD-9-CM | 259.8 |
Progeria (sanso be Hutchinson–Gilford syndrome anaa Hutchinson–Gilford progeroid syndrome; HGPS) be a type of progeroid syndrome.[1] A single gene mutation be responsible for causing progeria. De affected gene, dem know as lamin A (LMNA), dey make a protein necessary for holding de cell nucleus togeda. Wen dis gene mutate, an abnormal form of lamin A protein dem call progerin be produced. Progeroid syndromes be a group of diseases wey dey cause individuals to age faster dan usual. People born plus progeria typically dey live til dema mid- to late-teens anaa early twenties.[2][3] Severe cardiovascular complications usually dey develop by puberty, later on dey result in death.
Diagnosis
[edit | edit source]Skin changes, abnormal growth, and loss of hair occur. These symptoms normally start appearing by one year of age. A genetic test for LMNA mutations can confirm the diagnosis of progeria.[4][5] Prior to the advent of the genetic test, misdiagnosis was common.[5]
Differential diagnosis
[edit | edit source]Oda syndromes plus similar symptoms (non-laminopathy progeroid syndromes) include:[6]
- Acrogeria
- Berardinelli-Seip congenital lipodystrophy (congenital generalized lipodystrophy)
- Cockayne syndrome
- Ehlers–Danlos syndromes, progeroid form
- Gerodermia osteodysplastica
- Hallermann–Streiff syndrome
- Mandibuloacral dysplasia
- Neonatal progeroid syndrome (Wiedemann–Rautenstrauch syndrome)
- Nestor-Guillermo syndrome
- Penttinen syndrome
- Petty–Laxova–Weidemann progeroid syndrome
- POLR3A-related Wiedemann–Rautenstrauch syndrome
- PYCR1-related Wiedemann–Rautenstrauch-like syndrome
- Werner syndrome
References
[edit | edit source]- ↑ Sinha JK, Ghosh S, Raghunath M (May 2014). "Progeria: a rare genetic premature ageing disorder". The Indian Journal of Medical Research. 139 (5): 667–674. PMC 4140030. PMID 25027075.
- ↑ Roach ES, Miller VS (2004). Neurocutaneous Disorders. Cambridge University Press. p. 150. ISBN 978-0-521-78153-4.
- ↑ Hsiao KJ (1998). Advances in Clinical Chemistry (33rd ed.). Academic Press. p. 10. ISBN 978-0-12-010333-1.
- ↑ "Learning About Progeria". genome.gov. Archived from the original on 16 April 2008. Retrieved 17 March 2008.
- 1 2 "Progeria Research Foundation | The PRF Diagnostic Testing Program". Archived from the original on 28 August 2016. Retrieved 16 November 2011.
- ↑ Gordon, Leslie B.; Brown, W. Ted; Collins, Francis S. (1993), Adam, Margaret P.; Feldman, Jerry; Mirzaa, Ghayda M.; Pagon, Roberta A. (eds.), "Hutchinson-Gilford Progeria Syndrome", GeneReviews®, Seattle (WA): University of Washington, Seattle, PMID 20301300, retrieved 2023-11-12
External links
[edit | edit source]
- Legge J (2009). The Confucian Analects, the Great Learning & the Doctrine of the Mean. Cosimo, Inc. p. 113. ISBN 978-1-60520-643-1.