X-linked hypohidrotic ectodermal dysplasia associated with gastroesophageal reflux disease

IF 1.8 4区医学 Q3 GENETICS & HEREDITY

Molecular Genetics and Metabolism Reports Pub Date : 2025-05-09 DOI:10.1016/j.ymgmr.2025.101228

Yamato Hanawa , Wataru Murasaki , Tatsuya Ando , Yuji Baba , Hiroyuki Namba

引用次数: 0

Abstract

X-linked hypohidrotic ectodermal dysplasia (XLHED) is a rare genetic congenital disorder characterized by allelic heterogeneity, affecting the ectodermal structures. We present the case of a 4-month-old boy diagnosed with XLHED, suffering from recurrent aspiration pneumonia due to gastroesophageal reflux disease (GERD) since he was 1-month-old. This case highlights that GERD, when severe enough to cause aspiration pneumonia, may be associated with underlying ectodermal dysplasia, such as XLHED. In such cases, tube feeding may reduce the risk of pneumonia in infants with XLHED.

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x连锁少汗性外胚层发育不良与胃食管反流病相关

x连锁少汗性外胚层发育不良（XLHED）是一种罕见的遗传先天性疾病，其特征是等位基因异质性，影响外胚层结构。我们提出一个4个月大的男孩诊断为XLHED，从他1个月大的胃食管反流病（GERD）复发吸入性肺炎。本病例强调，当胃食管反流严重到足以引起吸入性肺炎时，可能与潜在的外胚层发育不良有关，如XLHED。在这种情况下，管饲可以降低XLHED婴儿肺炎的风险。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Molecular Genetics and Metabolism Reports Biochemistry, Genetics and Molecular Biology-Endocrinology

CiteScore

4.00

自引率

5.30%

发文量

105

审稿时长

33 days

期刊介绍： Molecular Genetics and Metabolism Reports is an open access journal that publishes molecular and metabolic reports describing investigations that use the tools of biochemistry and molecular biology for studies of normal and diseased states. In addition to original research articles, sequence reports, brief communication reports and letters to the editor are considered.