Congenital central hypoventilation syndrome (Ondine’s curse)
https://doi.org/10.18093/0869-0189-2023-33-4-575-579
Abstract
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.
About the Author
Y. L. Mizernitskiy
Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the Pirogov Russian National Research Medical University (Pirogov Medical University), Healthcare Ministry of Russia
Russian Federation
Competing Interests:
Russian Federation
Yury L. Mizernitskiy - Doctor of Medicine, Professor, Head of the Department of Chronic Inflammatory and Allergic Lung Diseases, Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the Pirogov Russian National Research Medical University (Pirogov Medical University), Healthcare Ministry of Russia; Honored Worker of Healthcare of the Russian Federation.
Taldomskaya ul. 2, Moscow, 125412
tel.: (499) 487-90-20
Competing Interests:
None
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Mizernitskiy Y.L. Congenital central hypoventilation syndrome (Ondine’s curse). PULMONOLOGIYA. 2023;33(4):575-579. (In Russ.) https://doi.org/10.18093/0869-0189-2023-33-4-575-579
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