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Investigation into Deep Breathing through Measurement of Ventilatory Parameters and Observation of Breathing Patterns
Published on: September 16, 2019
[Congenital central hypoventilation syndrome, report of three cases]
Ying Wang1, Xi-yu He1, Yao Yang1
1Department of Neurodevelopment and Genetics, The Bayi Children's Hospital Affiliated to Beijing Military Command General Hospital, Anhui Medical University, Beijing 100700, China.
Insights
Congenital central hypoventilation syndrome (CCHS) is characterized by normal breathing when awake but shallow, slow breathing with hypercapnia during sleep, requiring mechanical ventilation. PHOX2B gene mutations, specifically GCN repeat insertions in exon 3, were identified as the likely cause in these infants.
Area of Science:
- Pediatric Pulmonology
- Medical Genetics
- Neonatology
Background:
- Congenital central hypoventilation syndrome (CCHS) is a rare disorder affecting autonomic control of breathing.
- Early diagnosis and management are crucial to prevent severe outcomes and misdiagnosis.
Observation:
- Three infants with CCHS presented with recurrent respiratory failure requiring mechanical ventilation.
- Adequate ventilation was observed during wakefulness, contrasting with hypoventilation during sleep.
Findings:
- Sleep-related alveolar hypoventilation, characterized by shallow, slow breathing and hypercapnia (PaCO2 > 60 mm Hg), was consistently observed.
- Genetic analysis revealed PHOX2B gene mutations, specifically insertions of repeated GCN sequences in exon 3, in all three patients.
Implications:
- The study highlights key clinical characteristics for diagnosing CCHS, emphasizing the contrast between awake and sleep respiratory patterns.
- PHOX2B gene mutations, particularly in exon 3, are strongly implicated as the molecular etiology of CCHS, aiding in early diagnosis and genetic counseling.
Objective:
To evaluate clinical characteristics and PHOX2B gene mutations in congenital central hypoventilation syndrome (CCHS) and to facilitate the early diagnosis and management of CCHS and reduce the misdiagnosis.
Method:
Clinical data of 3 infants with CCHS who had recurrent respiratory failure episodes and dependent on mechanical ventilation support in 3 from March 2008 to April 2012 were analyzed, and blood gas analysis was performed respectively in the awaken and sleeping status. Gene sequencing was used for detection of PHOX2B gene mutation.
Result:
All the three patients had adequate ventilation during awaken time, but they presented with abnormal frequency and shallow breathing associated with alveolar hypoventilation after falling asleep. Blood gas analysis showed hypercapnia and CO2 partial pressure was consistently over 60 mm Hg (1 mm Hg = 0.133 kPa) after falling asleep, which is in accordance with the clinical features of CCHS. The PHOX2B gene sequencing showed that 6 GCN repeats were inserted at exon3 of PHOX2B in case 1, at same position, 5 GCN repeats were inserted in case 2 and 3.
Conclusion:
Normal ventilation in awaken status while shallow slow breathing accompanied with hypercapnia in sleep are the main clinical characteristics of CCHS, which requires mechanical ventilation. Acquired mutation in exon 3 of PHOX2B gene encoding repeated GCN sequence seems to be the molecular etiology of these three patients.
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