肺泡微石病伴播散性假单胞菌感染的一种新变异。

IF 6.2 2区医学 Q1 PEDIATRICS

Pediatrics Pub Date : 2025-04-16 DOI:10.1542/peds.2024-068882

Jacob McCoy,Anna-Theresa Lobos,Joseph de Nanassy,Lucy Perrem

引用次数: 0

摘要

随着越来越多的儿童严重表现的报道，增加我们对肺泡微石症（PAM）的遗传学理解是至关重要的。我们描述了一个6个月大的婴儿，表现为毛细支气管炎，由于播散性假单胞菌感染而恶化，SLC34A2变异的新纯合性，并在死后分析中出现肺钙球粒，与PAM一致。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

A Novel Variant in Pulmonary Alveolar Microlithiasis With Disseminated Pseudomonas Infection.

With growing reports of severe presentations in children, increasing our genetic understanding of pulmonary alveolar microlithiasis (PAM) is crucial. We describe a 6-month-old infant presenting with bronchiolitis, with deterioration due to disseminated Pseudomonas infection, with novel homozygosity of a variant in SLC34A2, and with pulmonary calcospherites on postmortem analysis, in keeping with PAM.

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来源期刊

Pediatrics 医学-小儿科

CiteScore

12.80

自引率

5.00%

发文量

791

审稿时长

2-3 weeks

期刊介绍： The Pediatrics® journal is the official flagship journal of the American Academy of Pediatrics (AAP). It is widely cited in the field of pediatric medicine and is recognized as the leading journal in the field. The journal publishes original research and evidence-based articles, which provide authoritative information to help readers stay up-to-date with the latest developments in pediatric medicine. The content is peer-reviewed and undergoes rigorous evaluation to ensure its quality and reliability. Pediatrics also serves as a valuable resource for conducting new research studies and supporting education and training activities in the field of pediatrics. It aims to enhance the quality of pediatric outpatient and inpatient care by disseminating valuable knowledge and insights. As of 2023, Pediatrics has an impressive Journal Impact Factor (IF) Score of 8.0. The IF is a measure of a journal's influence and importance in the scientific community, with higher scores indicating a greater impact. This score reflects the significance and reach of the research published in Pediatrics, further establishing its prominence in the field of pediatric medicine.