PHOX2B Mutation-Confirmed Congenital Central Hypoventilation Syndrome in A Chinese Family: Presentations From Newborn to Adulthood
Detect the PHOX2B Mutation-confirmed congenital central hypoventilation syndrome
Background: Congenital central hypoventilation syndrome (CCHS) is characterized by compromised chemo-reflexes that results in hypoventilation during sleep. Recently, a heterozygous PHOX2B gene mutation was identified in CCHS. This report was made to increase physicians' awareness of this rare disease.
Methods: A Chinese family of CCHS with presentations from newborn to adulthood and genetic analysis confirming the PHOX2B mutation was analyzed. After identifying central hypoventilation in an adult male (index case), clinical evaluation was performed on the complete family, which consisted of the parents, five siblings, and five offsprings. In addition, pulmonary function test, overnight polysomnography, arterial blood gas, and hypercapnia ventilatory response, and genetic screening for PHOX2B gene mutations were performed on living family members.
Results: The index patient and four offsprings demonstrated features of central hypoventilation. The index patients had hypoxia and hypercapnia while awake and breathing room air, nocturnal hypoventilation with nadir SpO2 of 50%, and polycythemia with hematocrit 70%. The first and fourth children had frequent cyanotic spells after birth and died of respiratory failure. The second and third children remained asymptomatic till adulthood but had decreased hypercapnic ventilatory response. The third child had nocturnal hypoventilation with nadir SpO2 of 59%. PHOX2B gene five alanine expansions were detected in all affected living subjects, including the index patient and two (second and third) children.
Conclusions: Our study confirms that the transmission of late-onset CCHS is autosomal-dominant and genetic screening of family members for CCHS probands allows for early diagnosis and treatment.
Observational Model: Family-Based, Time Perspective: Cross-Sectional
Central Alveolar Hypoventilation Syndrome
Naitonal Taiwan University Hospital
National Taiwan University Hospital
Results (where available)
- Source: http://clinicaltrials.gov/show/NCT00652964
- Information obtained from ClinicalTrials.gov on July 15, 2010
The purpose of this study is to investigate the evolution of daytime partial pressure of carbon dioxide in the blood (PaCO2) after 6 weeks of noninvasive ventilation-pressure support venti...
Background: Myotonic dystrophy lead to highly heterogeneous, multisystemic symptoms including myotonia, progressive muscle weakness, cardiac conduction defects, cataract, metabolic dysfunc...
The purpose of this randomised controlled study is to determine the impact of continuous positive airway pressure (CPAP) versus sub-therapeutic CPAP (placebo) on the control of gait upon s...
The main purpose of this study is to investigate if treatment of obstructive sleep apnea syndrome (OSAS) by continuous positive airway pressure (CPAP) given by a traditional CPAP device ad...
Comparison of automatic CPAP with fixed CPAP in patients with OSAS
To study whether mortality and cardiovascular morbidity differ in non-invasive ventilation (NIV)-treated patients with severe obesity-hypoventilation syndrome (OHS) as compared with CPAP-treated patie...
Abstract Congenital central hypoventilation syndrome (CCHS) is a rare neurocristopathy with severe central hypoventilation. CCHS results from a mutation in the paired-like homeobox 2B gene (PHOX2B). I...
The central alveolar hypoventilation of Ondine´s curse is a disorder characterized by absent or diminished ventilatory response to hypercapnia, hypoxia or both, with parallel decrease in saturation t...
The focus of this review is to compare and contrast two orphan disorders of late-onset hypoventilation. Specifically, rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic ...
Advanced medical technology has resulted in an increased survival rate of children suffering from congenital central hypoventilation syndrome. After hospitalization, these technology-dependent patient...
Medical and Biotech [MESH] Definitions
HYPOVENTILATION syndrome in very obese persons with excessive ADIPOSE TISSUE around the ABDOMEN and DIAPHRAGM. It is characterized by diminished to absent ventilatory chemoresponsiveness; chronic HYPOXIA; HYPERCAPNIA; POLYCYTHEMIA; and long periods of sleep during day and night (HYPERSOMNOLENCE). It is a condition often related to OBSTRUCTIVE SLEEP APNEA but can occur separately.
Small polyhedral outpouchings along the walls of the alveolar sacs, alveolar ducts and terminal bronchioles through the walls of which gas exchange between alveolar air and pulmonary capillary blood takes place.
The fibrous CONNECTIVE TISSUE surrounding the TOOTH ROOT, separating it from and attaching it to the alveolar bone (ALVEOLAR PROCESS).
A reduction in the amount of air entering the pulmonary alveoli.
Resorption or wasting of the tooth-supporting bone (ALVEOLAR PROCESS) in the MAXILLA or MANDIBLE.