Genetic interstitial lung disease.
Genetic interstitial lung disease.
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DOI：
10.1016/j.ccm.2011.11.001
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发表时间：
2012-03
影响因子：
5.7
通讯作者：
Garcia CK
中科院分区：
文献类型：
--
作者：
Devine MS;Garcia CK
间质性肺疾病(ILDS)，或弥漫性实质性肺疾病，是100多种不同肺部疾病的异质性集合，影响肺泡周围的组织和间隙。对于许多ILDS，这种脆弱的组织充满了炎症细胞、增殖的成纤维细胞、胶原、纤维连接蛋白、层粘连蛋白和其他大分子，导致不可逆转的结构扭曲和气体交换障碍。受ILD影响的患者通常表现为呼吸急促或咳嗽；对许多患者来说，有证据表明肺限制，弥散能力降低，以及肺泡和/或网状结节浸润物的X线表现。在这里，我们回顾了遗传性ILDS，重点放在照顾成年患者的肺科医生可能看到的疾病上。我们将通过简要讨论基因检测在该人群中的作用来结束综述。遗传性ILDS是指由父母或祖先的基因突变传播而产生的ILDS。我们将遗传性ILDS细分为两大类：影响多个器官的系统性疾病和主要影响肺部的疾病。对于这两个群体，透彻的过去病史和家族史为ILD的确切性质提供了必要的线索。首先，遗传模式提供了重要的信息；例如，与ILD相关的先天性新陈代谢错误表明了一种常染色体隐性遗传模式。其次，一些疾病表现出影响某一性别的倾向；例如，淋巴管肌瘤病(LAM)只发生在女性身上。发病年龄是另一个重要的提示。在后代中看到的更年轻和更严重的个体可能反映了遗传预期，这可以在具有遗传性端粒酶突变和逐渐缩短的端粒长度的常染色体显性亲属中看到。最后，患者和相关家庭成员的疾病谱为ILD的病因学提供了重要线索。如果
The interstitial lung diseases (ILDs), or diffuse parenchymal lung diseases, are a heterogeneous collection of over 100 different pulmonary disorders that affect the tissue and spaces surrounding the alveoli. For many of the ILDs, this delicate tissue is filled with inflammatory cells, proliferating fibroblasts, collagen, fibronectin, laminin and other macromolecules, which cause irreversible architectural distortion and impaired gas exchange. Patients affected by ILD usually present with shortness of breath or cough; for many, there is evidence of pulmonary restriction, decreased diffusion capacity and radiographic appearance of alveolar and/or reticulonodular infiltrates. Here we review the inherited ILDs, with a focus on the diseases that may be seen by pulmonologists caring for adult patients. We will conclude the review by briefly discussing the utility of genetic testing in this population.Inherited ILDs are those that result from the transmission of genetic mutations from a parent or ancestor. We have subdivided the inherited ILDs into two major categories: systemic disorders affecting multiple organs and disorders that primarily affect the lung. For both of these groups, thorough past medical and family histories provide essential clues about the exact nature of the ILD. First, the pattern of inheritance provides important information; for example, the inborn errors of metabolism that are associated with an ILD demonstrate an autosomal recessive pattern of inheritance. Second, some diseases show a predisposition for affecting a certain gender; for example, lymphangioleiomyomatosis (LAM) occurs exclusively in women. The age of onset of disease is yet another important hint. Younger and more severely affected individuals seen in later generations may reflect genetic anticipation, which can be seen in autosomal dominant kindreds with inherited telomerase mutations and progressively shortened telomere lengths. Finally, the spectrum of disease in the patient and related family members provides important clues to the etiology of ILD. If
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影响因子：
1.1
作者：
BURKHALTER, JL;MORANO, JU;MCCAY, MB
通讯作者：
MCCAY, MB
DOI：
10.1164/rccm.200503-504oc
发表时间：
2005-10-15
影响因子：
24.7
作者：
Bullard, JE;Wert, SE;Nogee, LM
通讯作者：
Nogee, LM
DOI：
10.1164/rccm.200804-550oc
发表时间：
2008-10-01
影响因子：
24.7
作者：
Cronkhite, Jennifer T.;Xing, Chao;Garcia, Christine Kim
通讯作者：
Garcia, Christine Kim
影响因子：
16
作者：
Dell'Angelica, EC;Shotelersuk, V;Bonifacino, JS
通讯作者：
Bonifacino, JS
影响因子：
19.7
作者：
Avila, Nilo A.;Dwyer, Andrew J.;Moss, Joel
通讯作者：
Moss, Joel