Marfan syndrome
Marfan syndrome
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DOI：
10.1111/j.1745-7599.2009.00461.x
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发表时间：
2009-12-01
影响因子：
--
通讯作者：
Gonzales, Elizabeth A.
中科院分区：
文献类型：
--
作者：
Gonzales, Elizabeth A.
PurposeTo提供一个概述马凡氏综合征（MFS），包括诊断标准，涉及的遗传因素，治疗的新兴理论，一个案例研究，并概述遗传咨询的个人和家庭的那些与MFS.Data SourcesSelected研究，审查，和临床articles.ConclusionsMFS是一种结缔组织疾病，具有独特的物理特性。遗传学领域的最新进展已经将这种疾病的过程追溯到某些基因突变。MFS影响光学、骨骼和心血管系统，如果不治疗，可导致显著的发病率和死亡率。密切监测和早期治疗是必要的，以确保一个正常的寿命。PracticeIt的影响是重要的高级实践护士（APN）要知道的并发症在那些与MFS。密切监测可降低与该综合征相关的死亡率和发病率。一个多学科的方法，利用APN的专业知识，是必要的综合护理。
PurposeTo provide an overview of Marfan syndrome (MFS), including diagnostic criteria, genetic factors involved, emerging theories for treatment, a case study, and an overview of genetic counseling for individuals and families of those with MFS.Data SourcesSelected research, review, and clinical articles.ConclusionsMFS is a connective tissue disorder with distinct physical characteristics. Recent advances in the field of genetics have traced this disease process to certain gene mutations. Affecting the optical, skeletal and cardiovascular systems, MFS can cause significant morbidity and mortality if left untreated. Close surveillance and early treatment are necessary to ensure a normal life span.Implications for PracticeIt is important for the advanced practice nurse (APN) to be aware of the complications in those with MFS. Attentive surveillance can decrease mortality and morbidity associated with this syndrome. A multidisciplinary approach, utilizing the expertize of the APN, is necessary for comprehensive care.