先天性中枢性低通气综合征的研究进展

先天性中枢性低通气综合征（congenital central hypoventilation syndrome,CCHS）,也称Ondine＇s curse,是一类自出生即存在的呼吸自主控制障碍。由于机体对高碳酸血症和低氧血症的敏感性降低或缺失,从而导致通气反馈控制障碍,临床表现为新生儿期发生的觉醒状态下通气充足,而睡眠时出现严重的、甚至致命性的肺泡低通气,需要机械通气支持;严重病例睡眠和觉醒状态都需要通气支持。[第一段]     

先天性中枢性低通气综合征5例临床研究

目的 研究先天性中枢性低通气综合征(CCHS)的临床特征,提高对CCHS的认识,以便早期诊断和治疗.方法 分析2002年8月至2006年6月收治的反复撤离呼吸机失败的5例患儿临床资料,经过仔细观察及相关检查,除外可导致低通气的心、肺、神经肌肉功能障碍原发病,结合相关文献,对照cCHS诊断标准.结果 5例患儿均有CCHS的典型临床特征:清醒时有足够的通气,睡眠时呼吸频率减慢,通气不足伴高碳酸血症,常需机械通气,对低通气所致的高碳酸血症与低氧血症无呼吸增快及觉醒反应.第1例在早期未能引起足够的重视,明确诊断较晚,提示CCHS的临床特征不易认识可致漏诊.结论 对于持续存在的睡眠状态通气不足及高碳酸血症,无心、肺、神经肌肉功能障碍的原发病可解释时,应考虑CCHS,采取措施尽早明确诊断,进行有效的干预.     

先天性中枢性低通气综合征研究现状

先天性中枢性低通气综合征（congenital central hypoventilation syndrome，CCHS）又称Ondine＇s curse（翁氏困扰）是指呼吸中枢化学感受器的原发性缺陷，对二氧化碳敏感性降低，自主呼吸控制衰竭，造成肺通气减少，导致高碳酸血症、低氧血症及一系列临床症状的综合征。CCHS患儿可伴发先天性巨结肠症（hirschspmng disease）、原发性神经嵴肿瘤（神经母细胞瘤、神经节瘤及成神经节细胞瘤），     

先天性中枢性低通气综合征1例

患儿,男性,1 d,因颜面部、肢端发绀10 min由产科转入.患儿为第8胎,第2产,胎龄38周,顺产出生,羊水清,脐带绕颈l周,Apgar评分1,5,10 min均为10分.生后约6 h出现颜面部及肢端青紫,予刺激及吸氧处理后好转,为进一步诊治以"发绀查因"转入新生儿重症监护室(NICU).     

先天性中枢性低通气综合征一例

患儿女，43d，生后间断喉鸣，因咳嗽4d伴抽搐1次入院，曾于当地医院按肺炎治疗3d无好转。     

先天性中枢性低通气综合征四例临床研究

目的 研究先天性中枢性低通气综合征（congenital central hypoventilation syndrome,CCHS）的临床特征,提高对CCHS的认识,以便早期诊断和治疗,提高临床诊疗水平.方法 分析2012年4月至2013年6月收治的反复青紫、高碳酸血症、撤机失败的4例患儿临床资料,经过相关检查,除外可导致低通气的心、肺、神经肌肉功能障碍原发病,并行CCHS主要致病遗传基因Phox2b检测,结合文献,对照CCHS诊断标准.结果 4例患儿均有CCHS典型临床特征：清醒时有足够的通气,睡眠时呼吸频率减慢,通气不足,出现青紫、高碳酸血症,对低通气所致的高碳酸血症和低氧血症无觉醒反应.基因检测均证实存在Phox2b基因突变,2例经予以无创通气治疗,l例3个月大时顺利出院,继续家庭无创通气,1例1个月时出院,家庭监护治疗,随访至今,均生长发育良好.结论 对于持续存在的睡眠状态下通气不足、反复高碳酸血症、撤机失败,而无心、肺、神经肌肉功能障碍原发病,需考虑CCHS,Phox2b基因检测可作为CCHS的重要诊断手段,无创通气治疗可为CCHS患儿提供有效的呼吸支持.     

先天性中枢性低通气综合征一例

患儿男,2个月,主因间断呛奶、精神弱1个月入院。1个月前患儿无明显诱因出现呛奶,吃奶渐少,逐日消瘦,偶有喉鸣。约27d前患儿精神萎靡,哭声低弱。10d前出现咳嗽,经头孢曲松钠治疗7d,咳嗽稍好转,但仍频繁呛奶,间断喉鸣,以“肺炎”收入院。     

先天性中枢性低通气综合征1例并文献复习

目的 提高对先天性中枢性低通气综合征(CCHS)的临床和基因特征的认识。方法 总结分析1例CCHS患儿的临床表现、诊断和基因检测结果,并进行文献复习。结果 男,7月龄。以肺部感染、撤机困难入院。入院肺部感染基本控制撤机后,患儿睡眠状态下出现呼吸浅慢,再次予机械通气,模式为双水平正压通气。患儿觉醒时呼吸活跃,入睡后依赖呼吸机,自主呼吸减慢,潮气量减小,出现CO2储留。同时相关辅助检查排除了原发心、肺、脑、神经肌肉及代谢性疾病,临床诊断为CCHS。取患儿及其父母静脉血行PHOX2B基因序列检测,显示患儿PHOX2B第3外显子存在突变（基因型为20/25）,其父母未检出突变,确诊为CCHS。患儿随访至11月龄,呼吸和循环情况尚平稳。结论 CCHS以觉醒时有充足通气,睡眠状态下通气不足为主要表现,行PHOX2B基因突变分析可确诊CCHS。     

先天性中枢性低通气综合征6例病例系列报告

1 病例资料 回顾性收集2017年3月至2021年2月在浙江大学医学院附属儿童医院(我院)住院确诊的6例先天性中枢性低通气综合征( CCHS )病例.CCHS 诊断符合以下标准[1,2]:①存在肺泡低通气(低氧血症及高碳酸血症),并排除心肺及神经肌肉原发疾病;②基因检测证实存在PHOX2B基因突变. 从病历中采集患儿出...     

Congenital central hypoventilation syndrome and hypoglycaemia

Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder typically presenting in infants with an impaired automatic control of breathing, particularly during sleep, and often associated with variable patterns of autonomic nervous system dysregulations. We studied three children who had CCHS associated with episodes of severe hypoglycaemia and hyperinsulinaemia; we discuss the possible relationship with impaired dopamine-beta-hydroxylase function. CONCLUSION: Hypoglycaemia and hyperinsulinaemia might be suspected in children with CCHS presenting with seizures and hyperhydrosis; though, further studies are needed to confirm this association.     

先天性中枢性低通气综合征的研究进展

先天性低通气综合征,也称 Ondine′s 诅咒,是以睡眠低通气及对高碳酸血症及低氧的低反应性为特征的疾病。这种紊乱通常合并非自主神经功能的神经障碍以及胚胎细胞形成脊髓的发育异常。本文将对该疾病发病机制、临床症状、诊断、治疗以及预后的最新进展作一综述。     

Congenital central hypoventilation syndrome

Congenital Central Hypoventilation Syndrome is a rare disorder of autonomic dysfunction where the body “forgets to breathe”. The primitive responses to hypoxia and hypercapnia are sluggish to absent. Since, it was first described in 1970, not much has been discovered about its etiology and pathophysiology except its relationship with PHOX2B gene mutations and associations with disorders of neural crest origin like Hirschprung’s Disease. Here, we describe such a case where the diagnosis of anything other than CCHS seems unlikely.     

Congenital central hypoventilation syndrome (Ondine's curse syndrome) in two siblings: Delayed diagnosis and successful noninvasive treatment

Congenital central hypoventilation syndrome (CCHS, Ondine's curse syndrome) is a rare respiratory disorder; less than 100 cases have been reported. Familiality of the disease has been discussed, but only few familial cases have been reported so far. In this report we describe the occurrence of CCHS in two male siblings. Diagnosis was established only at the age of 4 years in the first case, although the patient had disease related symptoms since early infancy. The second patient was one of dizygotic twins, he was diagnosed with CCHS at the age of 8 months. Up to that age only moderate desaturations had been observed. The other twin was unaffected by the disease. Both patients were successfully treated by nocturnal positive-pressure ventilation via a specially adapted face mask. They show satisfactory physical and neurologic development.     

Epidemiologic survey of patients with congenital central hypoventilation syndrome in Japan

Background: Congenital central hypoventilation syndrome (CCHS) is a rare disease characterized by hypoventilation during sleep. This study discusses the first epidemiologic survey of patients with CCHS in Japan. Methods: The first survey was conducted between September and December 2006 and involved 507 registered institutes for pediatric training in Japan. The second survey was conducted between January and April 2007 and involved only those institutes that confirmed diagnosis of CCHS in the first survey or reported on CCHS at a conference during the preceding decade. Results: Thirty‐seven patients with CCHS were reported from 23 hospitals. Patient characteristics were as follows: 18 were male, 19 were female; and age range 4 months to 34 years. Diagnosis was based on clinical symptoms in 37/37 patients; blood gas analysis in 25/37; ventilatory response to inhaled CO₂ in 14/37; and genetic analysis (paired‐like homeobox gene 2B) in 11/37. Complications included Hirschsprung's disease in 13/37 and central nervous system disorders in 15/37. Prognoses were as follows: 3/37 died in hospital, 1/37 remained in hospital, 33/37 were on home mechanical ventilation (died 4/33, survived 29/33), and 0/37 were cured. Ventilation methods included tracheostomy (21/37), use of a nasal mask (9/37), use of a facemask (5/37), and diaphragmatic pacing (1/37). Conclusions: There is currently no consensus on the most appropriate methods for diagnosing and treating patients with CCHS in Japan. More CCHS‐related data need to be collected in the near future in order to enable appropriate diagnosis and management of patients with CCHS.     

Later-onset congenital central hypoventilation syndrome due to a heterozygous 24-polyalanine repeat expansion mutation in the PHOX2B gene

Aim: to describe a family with later onset congenital central hypoventilation syndrome (LO-CCHS) and heterozygosity for a 24-polyalanine repeat expansion mutation in the PHOX2B gene, rendered phenotypically apparent with exposure to anesthetics.
Case summary: An otherwise healthy 2.75-year-old boy presented with alveolar hypoventilation after adenoidectomy and tonsillectomy for obstructive sleep apnea, requiring invasive ventilatory support during sleep. He had a heterozygous 24-polyalanine repeat expansion in the PHOX2B gene (20/24 genotype), a genotype that has not been previously described in association with CCHS or LO-CCHS symptoms. Clinical findings in members of the family with the same 20/24 genotype ranged from asymptomatic to prolonged sedation after benzodiazepines.
Conclusion: CCHS should be suspected in individuals presenting with unexplained hypoventilation and/or seizures after anesthetics or sedatives. This is the first report of LO-CCHS in a kindred with the PHOX2B 20/24 genotype. The incomplete penetrance observed in this family suggests a gene–environment interaction.     

Congenital central alveolar hypoventilation (Ondine's curse): a case report and review of the literature

Congenital central alveolar hypoventilation (C-CAH), so called Ondine's curse, is known to be quite a rare neuropathology that has been reported in only 23 cases to date. C-CAH was diagnosed in a 2-year-5-month-old infant. In the treatment of C-CAH, we implanted a right unilateral diaphragm pacemaker in the infant and his respiratory status was remarkably improved after diaphragm pacing. Twenty-three reported cases of this disorder are reviewed in the literature.Abbreviations C-CAH congenital central alveolar hypoventilation - IPPV intermittent positive pressure ventilation - DP diaphragm pacing