亲爱的研友该休息了!由于当前在线用户较少,发布求助请尽量完整地填写文献信息,科研通机器人24小时在线,伴您度过漫漫科研夜!身体可是革命的本钱,早点休息,好梦!

Inherited pulmonary surfactant metabolism disorders in Argentina: Differences between patients with SFTPC and ABCA3 variants

表面活性蛋白C 医学 队列 病理 内科学
作者
Juan E. Balinotti,Camila Mallie,Alberto Maffey,Alejandro Colom,Ralph Epaud,Alix de Becdelièvre,Pascale Fanen,Céline Delestrain,Martín Medín,Alejandro Teper
出处
期刊:Pediatric Pulmonology [Wiley]
卷期号:58 (2): 540-549 被引量:2
标识
DOI:10.1002/ppul.26225
摘要

Patients with inherited pulmonary surfactant metabolism disorders have a wide range of clinical outcomes and imaging findings. Response to current anti-inflammatory therapies has been variable and efficacy is unclear.To describe and compare genetic, clinical, histological, and computed tomography (CT) outcomes in a cohort of patients with variants in the genes encoding surfactant protein C (SP-C) or adenosine triphosphate-binding cassette transporter A3 (ABCA3) in Argentina.Observational cohort retrospective study. Patients carrying variants in genes encoding SP-C and ABCA3 proteins were included.Fourteen patients met the inclusion criteria: SFTPC n = 6, ABCA3 n = 8 (seven were heterozygous and one compound heterozygous). Neonatal respiratory distress was more frequent and severe in neonates with variants in the ABCA3 gene. The onset of the disease occurred in infancy before the age of 20 months in all cases. Patients with ABCA3 pathogenic variants had a severe clinical course, while long-term outcomes were more favorable in individuals with SFTPC variants. Initial CT findings were ground glass opacities and intraparenchymal cysts in both groups. Over time, signs of lung fibrosis were present in 57% of patients with ABCA3 variants and in 33% of the SFTPC group. The efficacy of anti-inflammatory interventions appears to be poor, especially for patients with ABCA3 pathogenic variants.Clinical, histological, and radiological features are similar in patients with SFTPC and ABCA3 variants; however, the latter have more severe clinical course. Current anti-inflammatory regimens do not appear to stop the progression of the disease.
最长约 10秒,即可获得该文献文件

科研通智能强力驱动
Strongly Powered by AbleSci AI
更新
PDF的下载单位、IP信息已删除 (2025-6-4)

科研通是完全免费的文献互助平台,具备全网最快的应助速度,最高的求助完成率。 对每一个文献求助,科研通都将尽心尽力,给求助人一个满意的交代。
实时播报
蚂蚁踢大象完成签到 ,获得积分10
30秒前
hgsgeospan完成签到,获得积分10
51秒前
直率的笑翠完成签到 ,获得积分10
58秒前
hgs完成签到,获得积分10
1分钟前
1分钟前
MchemG应助科研通管家采纳,获得10
1分钟前
JamesPei应助科研通管家采纳,获得10
1分钟前
隐形曼青应助科研通管家采纳,获得10
1分钟前
Kevin完成签到,获得积分10
1分钟前
1分钟前
辉哥发布了新的文献求助10
2分钟前
2分钟前
2分钟前
董可以发布了新的文献求助10
2分钟前
英俊的铭应助董可以采纳,获得10
2分钟前
curtain完成签到,获得积分10
3分钟前
大个应助科研通管家采纳,获得10
3分钟前
MchemG应助科研通管家采纳,获得10
3分钟前
所所应助科研通管家采纳,获得10
3分钟前
科研通AI2S应助科研通管家采纳,获得10
3分钟前
3分钟前
落寞书易完成签到 ,获得积分10
3分钟前
3分钟前
现实的小霸王完成签到,获得积分10
3分钟前
4分钟前
Xw完成签到,获得积分10
4分钟前
科研通AI5应助迷人问兰采纳,获得10
4分钟前
Hello应助LSH970829采纳,获得10
4分钟前
Xw发布了新的文献求助10
4分钟前
寒冷的应助核桃采纳,获得30
4分钟前
wen发布了新的文献求助10
5分钟前
隐形曼青应助科研通管家采纳,获得10
5分钟前
科研通AI2S应助科研通管家采纳,获得10
5分钟前
MchemG应助科研通管家采纳,获得10
5分钟前
wen完成签到,获得积分10
5分钟前
5分钟前
5分钟前
5分钟前
yar应助wen采纳,获得10
5分钟前
核桃发布了新的文献求助30
5分钟前
高分求助中
The Mother of All Tableaux: Order, Equivalence, and Geometry in the Large-scale Structure of Optimality Theory 3000
A new approach to the extrapolation of accelerated life test data 1000
ACSM’s Guidelines for Exercise Testing and Prescription, 12th edition 500
Indomethacinのヒトにおける経皮吸収 400
Phylogenetic study of the order Polydesmida (Myriapoda: Diplopoda) 370
基于可调谐半导体激光吸收光谱技术泄漏气体检测系统的研究 350
Robot-supported joining of reinforcement textiles with one-sided sewing heads 320
热门求助领域 (近24小时)
化学 材料科学 医学 生物 工程类 有机化学 生物化学 物理 内科学 纳米技术 计算机科学 化学工程 复合材料 遗传学 基因 物理化学 催化作用 冶金 细胞生物学 免疫学
热门帖子
关注 科研通微信公众号,转发送积分 3990084
求助须知:如何正确求助?哪些是违规求助? 3532108
关于积分的说明 11256447
捐赠科研通 3271016
什么是DOI,文献DOI怎么找? 1805171
邀请新用户注册赠送积分活动 882270
科研通“疑难数据库(出版商)”最低求助积分说明 809228