成年期出现的伴有PHOX2B扩增突变的中枢性低通气。
Central hypoventilation with PHOX2B expansion mutation presenting in adulthood.
作者信息
Barratt Shaney, Kendrick Adrian, Buchanan Fiona, Whittle Adam
机构信息
Bristol Royal Infirmary, Respiratory Medicine, Upper Maudlin Street, Bristol, BS2 8HW, UK.
出版信息
BMJ Case Rep. 2009;2009. doi: 10.1136/bcr.09.2008.0946. Epub 2009 Feb 2.
Abstract
The case history is described of a 41 year old male who presented with acute-on-chronic respiratory failure due to PHOX2B mutation-associated central hypoventilation with a quantified impaired response to hypercapnia. He was successfully treated with non-invasive ventilation, which has been continued nocturnally at home.
摘要
本文描述了一名41岁男性的病例，该患者因PHOX2B基因突变相关的中枢性低通气导致慢性呼吸衰竭急性发作，对高碳酸血症的反应定量受损。他通过无创通气成功治疗，目前在家中夜间持续使用。
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