Differential diagnosis of the causes of respiratory failure in children with achondroplasia. Clinical analysis
https://doi.org/10.25557/2073-7998.2023.01.29-35
Abstract
Three clinical cases of children with achondroplasia before the age of 1 year were analysed to determine the causes of respiratory failure (DN). It was found that despite a single molecularly genetically confirmed pathology, achondroplasia, the triggers of severe DN, leading to death in two cases and to ventilatory dependence in one, were different in three children of the first year of life. The presence of a single background mechanism of respiratory distress (caudal CMN group compression syndrome) suggests the development of a special algorithm for the management of children with AHP from the first days of life, given the high risk of respiratory distress, provoked by various triggers, of severe severity, leading to irreversible consequences.
Supporting agencies: The study was carried out without sponsorship
About the Authors
E. A. Balakireva
Belgorod National Research University
Russian Federation
Russian Federation
308015
85, Pobedy str.
Belgorod
A. A. Ulez’ko
Belgorod National Research University
Russian Federation
Russian Federation
308015
85, Pobedy str.
Belgorod
I. V. Nikolaenko
Belgorod National Research University
Russian Federation
Russian Federation
308015
85, Pobedy str.
Belgorod
S. R. Pletenskaya
Belgorod National Research University
Russian Federation
Russian Federation
308015
85, Pobedy str.
Belgorod
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Review
For citations:
Balakireva E.A., Ulez’ko A.A., Nikolaenko I.V., Pletenskaya S.R. Differential diagnosis of the causes of respiratory failure in children with achondroplasia. Clinical analysis. Medical Genetics. 2023;22(1):29-35. (In Russ.) https://doi.org/10.25557/2073-7998.2023.01.29-35
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