先天性中枢性低通气综合征(奥丁诅咒)

Q4 Medicine

Pulmonologiya Pub Date : 2023-05-23 DOI:10.18093/0869-0189-2023-33-4-575-579

Y. L. Mizernitskiy

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引用次数: 0

摘要

儿科医生和新生儿学家经常处理各种各样的呼吸衰竭的原因。大多数用于诊断和治疗这些疾病的算法都很发达。然而，一些罕见的呼吸系统疾病的诊断仍然具有挑战性。本综述的目的是介绍一种非常罕见的常染色体显性遗传病-先天性中枢性低通气综合征(Ondine 's curse)的最新文献资料。该综合征表现为由于先天性遗传缺陷，即染色体4p12上PHOX2B基因的多丙氨酸束扩张而导致自主呼吸缺失。结论。讨论了该病的发病机制、诊断、临床变异、治疗和预后等问题。

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Congenital central hypoventilation syndrome (Ondine’s curse)

Pediatricians and neonatologists often deal with a variety of causes of respiratory failure. Most algorithms for the diagnosis and treatment of such conditions are well developed. However, the diagnosis of some rare causes of respiratory disorders is still challenging. The aim of this review is to present current literature data on a very rare autosomal dominant disorder – congenital central hypoventilation syndrome (Ondine’s curse). This syndrome is manifested by the absence of spontaneous breathing due to a congenital genetic defect, namely the expansion of the polyalanine tract in the PHOX2B gene on chromosome 4p12. Conclusion. Issues of pathogenesis, diagnosis, clinical variants, treatment, and prognosis of this disease are discussed.

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来源期刊

Pulmonologiya Medicine-Pulmonary and Respiratory Medicine

CiteScore

1.40

自引率

0.00%

发文量

期刊介绍： The aim of this journal is to state a scientific position of the Russian Respiratory Society (RRS) on diagnosis and treatment of respiratory diseases based on recent evidence-based clinical trial publications and international consensuses. The most important tasks of the journal are: -improvement proficiency qualifications of respiratory specialists; -education in pulmonology; -prompt publication of original studies on diagnosis and treatment of respiratory diseases; -sharing clinical experience and information about pulmonology service organization in different regions of Russia; -information on current protocols, standards and recommendations of international respiratory societies; -discussion and consequent publication Russian consensus documents and announcement of RRS activities; -publication and comments of regulatory documents of Russian Ministry of Health; -historical review of Russian pulmonology development. The scientific concept of the journal includes publication of current evidence-based studies on respiratory medicine and their discussion with the participation of Russian and foreign experts and development of national consensus documents on respiratory medicine. Russian and foreign respiratory specialists including pneumologists, TB specialists, thoracic surgeons, allergists, clinical immunologists, pediatricians, oncologists, physiologists, and therapeutists are invited to publish article in the journal.