识别遗传疾病：儿科肺部护理的关键方面。
Recognizing genetic disease: A key aspect of pediatric pulmonary care.
机构信息
Pulmonary Division, Massachusetts General Hospital for Children, Boston, Massachusetts.
Department of Pediatrics, Harvard Medical School, Boston, Massachusetts.
出版信息
Pediatr Pulmonol. 2020 Jul;55(7):1794-1809. doi: 10.1002/ppul.24706.
Abstract
Advancement in technology has improved recognition of genetic etiologies of disease, which has impacted diagnosis and management of rare disease patients in the pediatric pulmonary clinic. This review provides an overview of genetic conditions that are likely to present with pulmonary features and require extensive care by the pediatric pulmonologist. Increased familiarity with these conditions allows for improved care of these patients by reducing time to diagnosis, tailoring management, and prompting further investigation into these disorders.
摘要
技术的进步提高了对疾病遗传病因的认识，这对儿科肺诊所罕见病患者的诊断和治疗产生了影响。本文综述了可能表现出肺部特征并需要儿科肺科医生进行广泛治疗的遗传疾病。通过提高对这些疾病的认识，可以缩短诊断时间、制定个性化的治疗方案，并进一步深入研究这些疾病，从而改善对这些患者的治疗。
相似文献
1
Recognizing genetic disease: A key aspect of pediatric pulmonary care.识别遗传疾病：儿科肺部护理的关键方面。
Pediatr Pulmonol. 2020 Jul;55(7):1794-1809. doi: 10.1002/ppul.24706.
2
The future is here: Integrating genetics into the pediatric pulmonary clinic.未来已来：将遗传学融入儿科肺科诊所。
Pediatr Pulmonol. 2020 Jul;55(7):1810-1818. doi: 10.1002/ppul.24723.
3
Pediatric Pulmonology 2022 year in review: Rare and diffuse lung disease.《儿科肺病学 2022 年年鉴：罕见弥漫性肺病》。
Pediatr Pulmonol. 2023 Oct;58(10):2719-2724. doi: 10.1002/ppul.26603. Epub 2023 Jul 26.
4
A review of the etiology and clinical presentation of non-cystic fibrosis bronchiectasis: A tertiary care experience.非囊性纤维化支气管扩张症的病因和临床表现综述：一项三级保健经验。
Respir Med. 2018 Apr;137:35-39. doi: 10.1016/j.rmed.2018.02.013. Epub 2018 Feb 24.
5
Airway Mucosal Host Defense Is Key to Genomic Regulation of Cystic Fibrosis Lung Disease Severity.气道黏膜宿主防御是囊性纤维化肺病严重程度的基因组调控的关键。
Am J Respir Crit Care Med. 2018 Jan 1;197(1):79-93. doi: 10.1164/rccm.201701-0134OC.
6
Pulmonary Manifestations of Genetic Disorders in Children.儿童遗传性疾病的肺部表现。
Pediatr Clin North Am. 2021 Feb;68(1):1-24. doi: 10.1016/j.pcl.2020.09.010.
7
Cystic fibrosis, primary ciliary dyskinesia and non-cystic fibrosis bronchiectasis: update 2008-11.囊性纤维化、原发性纤毛运动障碍和非囊性纤维化支气管扩张症：2008-11 更新。
Thorax. 2012 Jul;67(7):645-9. doi: 10.1136/thoraxjnl-2011-200467. Epub 2011 Jun 15.
8
Pediatric pulmonology 2021 year in review: Rare and diffuse lung disease.2021年儿科肺病回顾：罕见和弥漫性肺病
Pediatr Pulmonol. 2023 Feb;58(2):374-381. doi: 10.1002/ppul.26227. Epub 2022 Dec 1.
9
Prospective analysis of cystic fibrosis transmembrane regulator mutations in adults with bronchiectasis or pulmonary nontuberculous mycobacterial infection.支气管扩张或肺部非结核分枝杆菌感染成人患者囊性纤维化跨膜传导调节因子突变的前瞻性分析。
Chest. 2006 Oct;130(4):995-1002. doi: 10.1378/chest.130.4.995.
10
Genetic contributions to rare childhood lung diseases.遗传因素对儿童罕见肺部疾病的影响。
Paediatr Respir Rev. 2001 Sep;2(3):268-75. doi: 10.1053/prrv.2001.0150.
本文引用的文献
1
Elexacaftor-Tezacaftor-Ivacaftor for Cystic Fibrosis with a Single Phe508del Allele.依伐卡托与泰比卡托和艾克卡托三联复方药物治疗携带单个 F508del 突变的囊性纤维化
N Engl J Med. 2019 Nov 7;381(19):1809-1819. doi: 10.1056/NEJMoa1908639. Epub 2019 Oct 31.
2
Case 28-2019: A 22-Year-Old Woman with Dyspnea and Chest Pain.病例28 - 2019：一名22岁呼吸困难和胸痛的女性。
N Engl J Med. 2019 Sep 12;381(11):1059-1067. doi: 10.1056/NEJMcpc1904041.
3
Review of Cystic Fibrosis.囊性纤维化综述
Pediatr Ann. 2019 Apr 1;48(4):e154-e161. doi: 10.3928/19382359-20190327-01.
4
Congenital emphysematous lung disease associated with a novel Filamin A mutation. Case report and literature review.先天性气肿性肺病伴新型细丝蛋白 A 突变。病例报告及文献复习。
BMC Pediatr. 2019 Mar 29;19(1):86. doi: 10.1186/s12887-019-1460-4.
5
The Genetics of Pneumothorax.气胸的遗传学。
Am J Respir Crit Care Med. 2019 Jun 1;199(11):1344-1357. doi: 10.1164/rccm.201807-1212CI.
6
A review of filamin A mutations and associated interstitial lung disease.Filamin A 突变与相关间质性肺病的综述。
Eur J Pediatr. 2019 Feb;178(2):121-129. doi: 10.1007/s00431-018-3301-0. Epub 2018 Dec 13.
7
Pulmonary manifestations in tuberous sclerosis complex.结节性硬化症的肺部表现。
Am J Med Genet C Semin Med Genet. 2018 Sep;178(3):326-337. doi: 10.1002/ajmg.c.31638. Epub 2018 Jul 28.
8
Pulmonary Arterial Hypertension.肺动脉高压。
Heart Fail Clin. 2018 Jul;14(3):255-269. doi: 10.1016/j.hfc.2018.02.003.
9
Diagnosis of Primary Ciliary Dyskinesia. An Official American Thoracic Society Clinical Practice Guideline.原发性纤毛运动障碍的诊断。美国胸科学会临床实践指南。
Am J Respir Crit Care Med. 2018 Jun 15;197(12):e24-e39. doi: 10.1164/rccm.201805-0819ST.
10
Advances in the Genetics of Primary Ciliary Dyskinesia: Clinical Implications.原发性纤毛运动障碍的遗传学进展：临床意义。
Chest. 2018 Sep;154(3):645-652. doi: 10.1016/j.chest.2018.05.007. Epub 2018 May 22.
Zotero 插件