表面活性蛋白B缺乏症：RespiRare队列研究

Surfactant protein B deficiency: the RespiRare cohort.

作者信息

Fleury Manon, Delestrain Céline, Roditis Léa, Perisson Caroline, Renoux Marie-Catherine, Thumerelle Caroline, Epaud Ralph, Fletcher Camille, Jedidi Nouha, Coulomb L'Hermine Aurore, Corvol Harriet, Ducou le Pointe Hubert, Fanen Pascale, Sileo Chiara, Louvrier Camille, de Becdelievre Alix, Legendre Marie, Nathan Nadia

机构信息

Assistance Publique - Hôpitaux de Paris, Pediatric Pulmonology Department and Reference Center for Rare Lung Diseases RespiRare, Armand Trousseau Hospital, Sorbonne University, Paris, France.

Pediatrics Department, Centre Hospitalier Intercommunal de Créteil, Creteil, France.

出版信息

Thorax. 2025 Jan 17;80(2):109-112. doi: 10.1136/thorax-2024-221947.

DOI:10.1136/thorax-2024-221947

PMID:39632082

Abstract

Childhood interstitial lung diseases (chILD) are rare and usually severe disorders. Among them, very rare cases of surfactant protein (SP)-B deficiencies have been reported so far and are usually associated with fatal forms of chILD. The RespiRare network allows the collection of precise phenotypic and genotypic information. This study that reports a series of 11 SP-B-deficient patients underscores two key observations: patients with severe loss-of-function variants associated with SP-B complete deficiency presented symptoms at birth and died at a median age of 1 month; and extremely rare cases of hypomorphic variants with partially preserved SP-B function may allow survival.

摘要

儿童间质性肺疾病（chILD）是罕见且通常较为严重的疾病。其中，迄今为止已报告了非常罕见的表面活性蛋白（SP）-B缺乏病例，且通常与chILD的致命形式相关。RespiRare网络允许收集精确的表型和基因型信息。这项报告了11例SP-B缺乏患者系列的研究强调了两个关键观察结果：与SP-B完全缺乏相关的严重功能丧失变异患者在出生时出现症状，中位死亡年龄为1个月；而具有部分保留的SP-B功能的低表达变异的极其罕见病例可能存活。