Syndrome Hutchinson-Gilford (progeria)
https://doi.org/10.14341/probl11459
Abstract
Gatchinson-Guildford syndrome or progeria (senile dwarfism) is an extremely rare genetic disease in children with clinical features of premature aging. The frequency of the disease is 1 in 8 million newborns (De Busk. 1972). To date, about 70 patients with this syndrome have been described in world literature. The etiology of progeria is unclear. The genetic model of inheritance is unknown due to the extreme rarity of the syndrome and the absence of offspring in patients. However, studies by foreign scientists allow us to talk about sporadic dominant mutation as the genetic basis of this syndrome. The clinical picture of progeria is represented by symptoms of progressive premature aging. Characteristic face: exophthalmos, a thin coracoid nose, a large brain and small facial skull, a thin voice, skeletal anomalies. Puberty usually does not occur; external genitalia hypoplasia. Intelligence average or above average. This syndrome is characterized by widespread atherosclerosis with lesions of coronary and mesenteric vessels, aorta, cerebral vessels, with hyperlipidemia. Progeria as a model of premature aging is studied in various aspects: metabolic, hormonal, histological, immunological, molecular.
References
1. Козлова С. И., Семанова Е., Демикова Н. С., Блинникова О. Е. Наследственные синдромы и медико—генетическое консультирование. — Л., 1987.
2. Brown W. Т, Darlington G. J., Arnold A. et al. // Clin. Genet. — 1980. — Vol. 17, N 3. — P. 213—219.
3. Brown W. T., Darlington G. J. // Amer. J. hum. Genet. — 1980. — Vol. 32, N 4. — P. 614—619.
4. Brown W. T. //Amer. J. clin. Nutr. — 1992. — Vol. 55, N 6. — Suppl. — P. 1222S—1224S.
5. Dyck J. D., David T. E., Burke B. et al. // J. Pediat. — 1987. — Vol. 111, N 3. — P. 407—410.
6. Goldstein S., Moerman E. J. // Amer. J. hum. Genet. — 1978. — Vol. 30, N 2. — P. 167—173.
7. Mc Kusick A. V. Mendelian Inheritance in Man. — 9—th Ed. — London, 1990. — P. 797—798.
8. Rautenstrauch T, Snigula E, Krieg T. et al. // Europ. J. Pediat. — 1977. — Vol. 124, N 2. — P. 101—112.
9. Rosenbloom A. L., Карру M. S., DeBusk F. L. et al. // J. Pediat. — 1983. — Vol. 102, N 3. — P. 400—402.
10. Salk D. // Hum. Genet. — 1982. — Vol. 62, N 1. — P. 1—15.
11. Viegas J., Soura P. L. R., Saizano F. M. // J. med. Genet. — 1974. — Vol. 62, N 1. — P. 1—15.
Review
For citations:
Fofanova O.V. Syndrome Hutchinson-Gilford (progeria). Problems of Endocrinology. 1995;41(4):24-26. (In Russ.) https://doi.org/10.14341/probl11459
Views:
74693
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License (CC BY-NC-ND 4.0).
Email this article 
.jpg){kind=logo}
