Progeria (Hutchinson-Gilford Syndrome): Literature Review and Clinical Case
| Autor: | Natalia V. Buchinskaya, Aida Zh. Akhenbekova, Aliya A. Bugybay, Mikhail M. Kostik |
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| Jazyk: | English<br />Russian |
| Rok vydání: | 2022 |
| Předmět: | |
| Zdroj: | Вопросы современной педиатрии, Vol 21, Iss 3, Pp 253-264 (2022) |
| Druh dokumentu: | article |
| ISSN: | 1682-5527 1682-5535 |
| DOI: | 10.15690/vsp.v21i3.2431 |
| Popis: | Progeria, or Hutchinson-Gilford Syndrome is a rare disease from the group of laminopathies characterized by premature aging with skin, bones and cardiovascular system lesions. Pathogenesis is based on pathogenic variants in the LMNA gene leading to anomalies in the nuclear membrane morphology, gene expression disruption, chromatin structure changes, mitochondrial dysfunction, DNA repair and alternative splicing defects, and telomere shortening acceleration. Major manifestations of the disease are: skin lesions (scleroderma-like syndrome and pigmented lesions), lipodystrophy, late teeth eruption, teeth crowding, alopecia, nail dystrophy, osteolysis of distal phalanges, hip joints valgus deformation, joints contractures, atherosclerosis, hearing loss, early heart attacks and strokes. Scleroderma-like skin changes, osteoporosis, flexion contractures of hands’ interphalangeal joints, and hip joints osteoarthritis require differential diagnosis with rheumatic diseases. The basic strategy in management of patients with progeria is the prevention and treatment of its cardiovascular manifestations (early strokes and heart attacks, arterial hypertension, and atherosclerosis), as well as the increase of patients’ quality of life and daily activity. The efficacy of therapy in patients with progeria via the use of farnesyltransferase inhibitors (monotherapy; combination with bisphosphonates or statins), retinoids, and 1,25(OH)2 — vitamin D3 is studied. This literature review is updated with clinical case description of a girl with progeria. The diagnosis was confirmed by sequencing of the LMNA gene (Sanger), and previously described pathogenic variant in exon 11 (c.1824C>T, rs58596362) in the heterozygous state (p.Gly608Gly, NM_170707.3) was revealed. |
| Databáze: | Directory of Open Access Journals |
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