کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
4171096 1275646 2011 11 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Congenital Central Hypoventilation Syndrome in Children
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی پریناتولوژی (پزشکی مادر و جنین)، طب اطفال و بهداشت کودک
پیش نمایش صفحه اول مقاله
Congenital Central Hypoventilation Syndrome in Children
چکیده انگلیسی

SummaryCongenital central hypoventilation syndrome (CCHS) is a rare, lifelong condition wherein control of breathing is abnormal and patients present with symptoms of alveolar hypoventilation. The severity of hypoventilation varies and although most patients present in the neonatal period, late onset cases have been reported. In 2003, it was discovered that mutations in the PHOX2B gene were responsible for CCHS. This gene also plays a role in neural crest cell migration, and many patients present with symptoms of autonomic dysfunction in addition to hypoventilation. The pathophysiology responsible for hypoventilation remains unclear although a unifying hypothesis is that the abnormality is located in areas of the brain involved in integration of chemoreceptor afferent pathways for ventilation. The goal of treatment for CCHS is to ensure adequate ventilation during wakefulness and sleep. A variety of ventilation modalities are available including positive pressure ventilation via tracheostomy, non-invasive ventilation via nasal mask, and diaphragmatic pacing. With close monitoring and support, children with CCHS can be expected to function well in society and have a good quality of life.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Paediatric Respiratory Reviews - Volume 12, Issue 4, December 2011, Pages 253–263
نویسندگان
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