{"title":"先天性中枢性低通气综合征(Ondine 's Curse)临床一例","authors":"Teimur S. Adylov, Evgenii V. Shestak","doi":"10.15690/vsp.v22i4.2592","DOIUrl":null,"url":null,"abstract":"Background . Congenital central hypoventilation syndrome (CCHS), or Ondine’s Curse, is rare, incurable and life-threatening disease characterized by autonomic nervous system disorders, it manifests with disability to maintain ventilation function during sleep. Sensitivity to hypoxia and hypercapnia is reduced in case of CCHS, thus, it leads to recurrent episodes of deep apnea. The world literature describes just over 1000 cases of this disease. Clinical case description . An infant born at 37th week of gestation, weight of 3330 g, had episodes of apnea and hypercapnia from the first day of life. CCHS was suspected by the 28th day of life after excluding other causes of respiratory disorders, and it was genetically confirmed by the 43rd day of life — pathogenic variant of PHOX2B gene was revealed. Mechanical ventilation has been initiated by the age of 1 month after disease worsening. Analysis of CCHS cases published in Russian-language medical literature was performed. Typical symptoms and timing of their manifestation, as well as the time before correct diagnosis were mentioned. Conclusion . Symptoms that can be suggestive of CCHS presence early after birth and can urge to perform all the necessary genetic testing that are crucial for timely treatment onset and for minimizing the negative effect of hypoxemia and hypercapnia on the child are described.","PeriodicalId":37561,"journal":{"name":"Voprosy Sovremennoi Pediatrii - Current Pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2023-08-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Congenital Central Hypoventilation Syndrome (Ondine’s Curse): Clinical Case\",\"authors\":\"Teimur S. Adylov, Evgenii V. Shestak\",\"doi\":\"10.15690/vsp.v22i4.2592\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Background . Congenital central hypoventilation syndrome (CCHS), or Ondine’s Curse, is rare, incurable and life-threatening disease characterized by autonomic nervous system disorders, it manifests with disability to maintain ventilation function during sleep. Sensitivity to hypoxia and hypercapnia is reduced in case of CCHS, thus, it leads to recurrent episodes of deep apnea. The world literature describes just over 1000 cases of this disease. Clinical case description . An infant born at 37th week of gestation, weight of 3330 g, had episodes of apnea and hypercapnia from the first day of life. CCHS was suspected by the 28th day of life after excluding other causes of respiratory disorders, and it was genetically confirmed by the 43rd day of life — pathogenic variant of PHOX2B gene was revealed. Mechanical ventilation has been initiated by the age of 1 month after disease worsening. Analysis of CCHS cases published in Russian-language medical literature was performed. Typical symptoms and timing of their manifestation, as well as the time before correct diagnosis were mentioned. Conclusion . Symptoms that can be suggestive of CCHS presence early after birth and can urge to perform all the necessary genetic testing that are crucial for timely treatment onset and for minimizing the negative effect of hypoxemia and hypercapnia on the child are described.\",\"PeriodicalId\":37561,\"journal\":{\"name\":\"Voprosy Sovremennoi Pediatrii - Current Pediatrics\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-08-25\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Voprosy Sovremennoi Pediatrii - Current Pediatrics\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.15690/vsp.v22i4.2592\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Voprosy Sovremennoi Pediatrii - Current Pediatrics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.15690/vsp.v22i4.2592","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"Medicine","Score":null,"Total":0}
引用次数: 0
摘要
背景。先天性中枢性低通气综合征(Congenital central hypoventilation syndrome, CCHS),又称Ondine 's Curse,是一种罕见的、无法治愈的、危及生命的疾病,以自主神经系统功能紊乱为特征,表现为睡眠时无法维持通气功能。CCHS对缺氧和高碳酸血症的敏感性降低,因此导致深呼吸暂停反复发作。世界文献描述了1000多例这种疾病。临床病例描述。妊娠第37周出生的婴儿,体重3330 g,从出生第一天起就出现呼吸暂停和高碳酸血症发作。在排除其他呼吸系统疾病原因后,于出生第28天怀疑为CCHS,在出生第43天遗传学上确诊为PHOX2B基因致病性变异。病情恶化后1个月开始机械通气。对俄文医学文献中发表的CCHS病例进行分析。并介绍了典型症状、表现时间及正确诊断前的时间。结论。出生后早期可能提示CCHS存在的症状,并可能敦促进行所有必要的基因检测,这对于及时治疗和减少低氧血症和高碳酸血症对儿童的负面影响至关重要。
Congenital Central Hypoventilation Syndrome (Ondine’s Curse): Clinical Case
Background . Congenital central hypoventilation syndrome (CCHS), or Ondine’s Curse, is rare, incurable and life-threatening disease characterized by autonomic nervous system disorders, it manifests with disability to maintain ventilation function during sleep. Sensitivity to hypoxia and hypercapnia is reduced in case of CCHS, thus, it leads to recurrent episodes of deep apnea. The world literature describes just over 1000 cases of this disease. Clinical case description . An infant born at 37th week of gestation, weight of 3330 g, had episodes of apnea and hypercapnia from the first day of life. CCHS was suspected by the 28th day of life after excluding other causes of respiratory disorders, and it was genetically confirmed by the 43rd day of life — pathogenic variant of PHOX2B gene was revealed. Mechanical ventilation has been initiated by the age of 1 month after disease worsening. Analysis of CCHS cases published in Russian-language medical literature was performed. Typical symptoms and timing of their manifestation, as well as the time before correct diagnosis were mentioned. Conclusion . Symptoms that can be suggestive of CCHS presence early after birth and can urge to perform all the necessary genetic testing that are crucial for timely treatment onset and for minimizing the negative effect of hypoxemia and hypercapnia on the child are described.
期刊介绍:
The main purpose of the academic journal "Current Pediatrics" is to cover the issues related to health, emotional state, and social adaptation of children. In the journal we publish the most pressing issues of research and applied problems (such as social paediatrics; clinical findings, anamnesis, and diagnosis of paediatric diseases; prevention and rehabilitation; supply of healthy and sick child), reviews on the current state of medical science and management of health care in Russia. Along with the concern for providing a high level of basic research publications, the journal, being a mass media tool, tends to meet the interests and requirements of practitioners from different regions and bring up vital and urgent questions. To accomplish this purpose the journal includes the materials of practical interest presented in the following sections: "Exchange of experience", "Doctor''s aid", "Continuous professional education", "Expert Opinion". The journal presents actual official information from the Union of Paediatricians of Russia and publishes materials on the history of medical science, congresses, seminars, conferences, both in our country and abroad.