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[哈钦森-吉尔福德早衰症。新生儿发病的罕见病例]

[Hutchinson-Gilford progeria. A rare case of neonatal occurrence].

作者信息

Zucchini A, Bonfiglioli G, Masignà Ricciardi M G

出版信息

Pediatr Med Chir. 1986 Jul-Aug;8(4):583-5.

PMID:3575136
Abstract

A case of Hutchinson-Gilford progeria syndrome is described in which phenotypic and metabolic symptoms were already evident at birth. Both under a clinical and autopsy point of view an early old age of organs and apparatuses was apparent, posing the problem of the reason why an early old aging occurs. The authors mention literature in favour of a genetic control of cellular aging and make the assumption that the genes controlling old age are various and that a greater or lesser presence and incidence of them could justify the earlier or normal appearance of this status.

摘要

描述了一例哈钦森-吉尔福德早衰综合征病例,其表型和代谢症状在出生时就已明显。从临床和尸检角度来看,器官和组织都明显呈现早衰状态,这就引出了早衰发生原因的问题。作者提及了支持细胞衰老受基因控制的文献,并假设控制衰老的基因多种多样,其或多或少的存在和发生率可以解释这种状态是更早出现还是正常出现。

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