PROGERIA (the Greek progeros which prematurely grew old; synonym senilism) — pathological senilism of an organism. Distinguish a progeria at children and a progeria at adults. In article the progeria at children is described. A progeria at adults — see. Verner syndrome .
The item (a synonym Getchinson's syndrome — Gilforda) occurs at children quite seldom, in literature is published apprx. 70 observations. The phenomenon of a senilism of children was described for the first time by J. Getchinson in 1886. In 1897 Gilford (N. of Gilford) described characteristic patomorfol. symptoms of this disease were also offered by the term «progeria».
Children have no fair idea of P.'s genesis. According to one researchers, it is inherited on autosomal recessively type, according to others — is a consequence of diencephalic and pituitary insufficiency or secondary defeat of several closed glands. Isolated cases of inborn P. U of patients chromosomal complement without aberration are described; oppression of ability of cells to recovery of single-stranded ruptures of DNA induced by 7 radiation is noted. Fibroblasts in culture of fabric are usually viable only during 9 — 11 generation whereas at healthy people they worry apprx. 50 passages.
At patomorfol. a research the greatest changes find in cardiovascular system in the form of generalized atherosclerosis of vessels, an atheromatosis of an aorta, thrombosis of coronary (coronal) arteries with a myocardial infarction, fibrous changes of a myocardium; besides, adjournment of zhiropodobny substance in a brain, bark of adrenal glands, kidneys, a liver, gonads, and also a sclerosis of various bodies, including a hypophysis, adrenal glands, a thyroid gland and gonads is noted. In skin disorganization of bunches of collagen, their thinning, a hyalinosis, reduction of quantity of veins, in bones — thinning of a bast layer, a large amount of fibrous fabric is noted. Epithelial bodies are rudimentary or are absent.
At some children of P. it is shown in 5 — 8 months, at others — at the age of 3 — 4 years. At most of them it begins with sharp delay of physical development and changes from skin and its appendages. Skin becomes thinned, dry and wrinkled (pergament), is subject to sunblisters. On sites of skin, free from clothes, there can be nevus pigmentosus. Head hair rare, have a vellus appearance, quite often gray-haired, eyebrows and eyelashes can be absent; nails are thin, fragile.
Hypodermic cellulose is absent. Characteristic appearance of sick (fig.) forms. The head rather big with a little outstanding frontal hillocks and the face bones reduced in sizes at the expense of an underdeveloped mandible. A mask-like face, a nose hooked, the exophthalmos, ears which are sticking out is expressed. Teeth are cut through late or are absent. The thorax is narrow, muscles are developed badly, muscles of an atrofichna, but dense. The kyphosis of chest department of a backbone is noted. Extremities are thin, with the acting joints, the progressing anchylosis and restriction of mobility in joints is quite often noted. Generative organs are underdeveloped, secondary sexual characteristics are absent (see. Hypogonadism ). Are sometimes noted nevrol. disturbances in the form of asymmetry of a craniocereberal innervation, a nystagmus, an anizorefleksiya or spasms. The intelligence decreases at later stage of a disease owing to the progressing atherosclerosis.
Diagnosis put on the basis of characteristic a wedge, pictures. In blood the lipidemia decides on the increased level beta and pre - beta lipoproteids. On an ECG diffusion changes of a myocardium come to light. At an angiography of coronary arteries their narrowing comes to light, at Ophthalmolum. a research — opacification of crystalline lenses. Radiological, in addition to the disproportions of a skull stated above, symptoms of intracranial hypertensia are found.
Differential diagnosis it is necessary to carry out with early malignant forms of atherosclerosis, miotonichesky dystrophy of Kurshmann — Shteynerta — Batten (see. Miotoniya ), Kokkeyn's syndrome (see. Ichthyosis ), Kamurati's disease — Engelmanna (see. Kamurati-Engelmanna disease ), Elers's syndrome — Danlosa — Chernogubova (see. Desmogenez imperfect ) and other diseases at which P. is one of symptoms.
Treatment includes purpose of a diet, protein-rich and vitamins, lipotropic drugs, amino acids.
Forecast adverse. Life expectancy, according to L. S. Soskin and Yu. S. Burov, from 7 to 27 years, on average 13 years. Patients perish from exhaustion, a myocardial infarction, and also from intercurrent diseases.
Bibliography: Bichkovsky V. I. and Gekker L. Ya. Kl_n_ka a proger і ї at Ditinum 3,5 rok_v, Ped_at., akush. and g_nek., No. 4, page 27, 1972; And h e in Yu. P. and Mednikovan. P. O syndrome of a senilism, Klin, medical, t. 55, No. 7, page 119, 1977; F and N to about N and G. and l r e N And. The guide to children's diseases, the lane with it., page 43, M., 1960; Fedorova E. Century, etc. About an inborn progeria, Pediatrics, No. 4, page 66, 1980; D e Busk F. L. Progeria, Clin. Pediat., v. 10, p. 62, 1971; H u-tchinson J. Congenital absence of hair and mammary glands with atrophic condition of the skin and its appendages in a boy whose mother had been almost wholly bald from alopecia areata from the age of six, Med. - chir. Trans., v. 69, p. 473, 1886; R u v a 1 with a b a R. H. a. o. Children who age rapidly-progeroid syndromes, Clin. Pediat., v. 16, p. 248, 1977; S n i g ula Fr. Rautenstrouch Th. A new neonatal progeroid syndrome, Europ. J. Pediat., v. 136, p. 325, 1981.
V. A. Tabolin.