A rare presentation of childhood interstitial lung disease attributed to kdm3b gene mutation: a case report

Zaineb Benslimane, Sinan Yavuz, Nader Francis
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引用次数: 0

Abstract

Childhood Interstitial Lung Disease (chILD) encompasses various respiratory conditions affecting children's lung airspaces and tissues, with diverse causes. One rare cause involves structural vascular changes. We describe a case of a 10-years-old boy diagnosed with chILD who exhibited specific dysmorphic features, developmental delay, and intellectual disability. He was diagnosed with severe pulmonary arterial hypertension (PAH) due to venous thromboembolic disease, an unusual underlying condition for chILD. A Whole Exome Sequence showed mutations in KDM3B and SIN3A genes, respectively responsible for Diets-Jongmans syndrome (DIJOS) and Witteveen-Kolk syndrome (WITKOS). Both syndromes can explain our patient´s phenotype and KDM3B mutation has been previously described to be associated with PAH. Our case suggests a potential association between KDM3B mutation and PAH leading to chILD. It also enriches the knowledge of genotypic diversity in KDM3B and SIN3A genes as well as the spectrum of clinical associations with DIJOS and WITKOS syndromes.
kdm3b基因突变引起的罕见儿童间质性肺病1例报告
儿童间质性肺病(chILD)包括影响儿童肺空间和组织的各种呼吸系统疾病,其病因多种多样。一种罕见的病因与血管结构改变有关。我们描述了一个10岁的男孩诊断为儿童谁表现出特殊的畸形特征,发育迟缓和智力残疾。他被诊断为严重肺动脉高压(PAH)由于静脉血栓栓塞性疾病,一个不寻常的儿童基础条件。整个外显子组序列显示KDM3B和SIN3A基因突变,分别负责Diets-Jongmans综合征(DIJOS)和Witteveen-Kolk综合征(WITKOS)。这两种综合征都可以解释我们患者的表型,KDM3B突变先前已被描述为与PAH相关。本病例提示KDM3B突变与PAH导致chILD之间存在潜在关联。它还丰富了KDM3B和SIN3A基因的基因型多样性,以及与DIJOS和WITKOS综合征的临床关联谱。
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