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18三体综合征长期存活者的临床管理考量

Clinical management considerations in long-term survivors with trisomy 18.

作者信息

Van Dyke D C, Allen M

机构信息

Department of Pediatrics, University of Iowa Hospital and Clinic, Iowa City 52242.

出版信息

Pediatrics. 1990 May;85(5):753-9.

PMID:2330236
Abstract

As many as 90% or more of children with trisomy 18 die within the first year of life. A review of six patients with trisomy 18 documented by karyotype surviving past 1 year of age and of the trisomy 18 files of the Support Organization for Trisomy 18 and 13 indicated that a small number of children with trisomy 18 survive beyond their first year of life; a few live into their teens and twenties. In addition to medical problems that are unique to this chromosomal syndrome, these patients present complex medical problems common to all persons with chromosomal anomalies. The primary and tertiary care consultants who are able to provide knowledge and sensitive supportive care to children with trisomy 18 and to their parents are performing a service of significant benefit, no matter how brief the life span of the child may be.

摘要

多达90%或更多的18三体综合征患儿在出生后第一年内死亡。一项对6例经核型分析确诊为18三体综合征且存活超过1岁的患儿以及18三体综合征和13三体综合征支持组织的18三体综合征病例档案的回顾表明,少数18三体综合征患儿存活超过了出生后第一年;有一些活到了十几岁和二十几岁。除了这种染色体综合征特有的医学问题外,这些患者还存在所有染色体异常患者共有的复杂医学问题。能够为18三体综合征患儿及其父母提供知识和贴心支持性护理的初级和三级护理顾问,无论患儿的寿命多么短暂,都在提供一项具有重大益处的服务。

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