皮罗氏序列征的研究进展

doi:10.3877/cma.j.issn.1674-1366.2015.02.017

皮罗氏序列征（PRS）是以小颌畸形、舌后坠和气道梗阻为主要特征的疾病，约58% ~ 90%的患儿伴有特征性的U形不完全性腭裂，目前病因不明。PRS并不构成一个独立的综合征，而是单独发生或者是其他综合征的不同程度的表现和反映。小颌畸形、舌后坠导致的气道梗阻使患儿呼吸和进食困难，进而出现低氧血症、胃食道反流、重度营养不良，严重的会导致患儿体重逐渐下降、消瘦甚至死亡。PRS的评估和治疗需要多学科合作。在采取治疗措施前首先要评估患儿气道梗阻的类型和部位、喂养困难产生的原因等。治疗方案的制定主要围绕着解决患儿气道梗阻和喂养困难两个方面来进行。约70%的患者通过采取俯卧位即可解决气道梗阻的问题。同样，采取正确的喂养姿势也可以解决大部分的喂养问题。如果采用改变体位的方法不能够解决气道梗阻和喂养的问题，则需要分别放置鼻咽通气管和鼻胃管来改善呼吸和进食。经过非手术的气道管理不能缓解气道堵塞，则需要手术治疗。目前，手术治疗的方法主要有唇舌黏连、下颌骨牵引成骨、气管切开等。在手术治疗前多导睡眠检测和支气管纤维镜的检查必不可少，前者为患儿的睡眠呼吸状况提供客观的指标，后者可以明确患儿气道梗阻的位置，排除舌根水平以下的气道梗阻。

关键词: 皮罗氏序列征, 小颌畸形, 气道梗阻

Pierre Robin sequence (PRS) is classically described as a triad of micrognathia, glossoptosis, and airway obstruction. About 58% ~ 90% infants of Pierre Robin sequence are associated with a wide U-shaped cleft palate. The pathogenesis of PRS is not clear. PRS is not a syndrome in itself, but rather a sequence of disorders which are related to several other craniofacial anomalies and may appear in conjunction with a syndromic diagnosis. The micrognathia leads to glossoptosis, which in turn results in airway obstruction and inability to feed, and then results in hyoxemia, gastroesophageal reflux and severe malnutrition. In the most severe case it may lead to weight loss and death. Infants with PRS should be evaluated by a multidisciplinary team to assess the anatomic findings, delineate the source of airway obstruction, and address airway and feeding issues. Treatment decisions should focus on the airway obstruction and feeding issues. Positioning will resolve the airway obstruction in 70% of cases. In the correct position, most children will also be able to feed normally. If the infant continues to show evidence of desaturation, then placement of a nasopharyngeal tube is indicated. A proportion of PRS infants do not respond to conservative measures and will require operative treatment. Tongue-lip adhesion and distraction osteogenesis of the mandible and tracheostomy are usually be used. Prior to considering any surgical procedure, the clinician should first rule out any sources of obstruction below the base of the tongue. A polysomnography also be necessary to monitor the sleep apnea.

Key words: Pierre Robin sequence, Micrognathia, Airway obstruction

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[1]	周嘉玮, 崔颖秋, 毛喆, 王洪涛. 采用双侧下颌牵引成骨术治疗皮罗序列征的研究进展[J/OL]. 中华口腔医学研究杂志(电子版), 2021, 15(04): 255-260.

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