PHOX2B Mutation-Confirmed Congenital Central Hypoventilation Syndrome in A Chinese Family: Presentations From Newborn to Adulthood
Summary
Detect the PHOX2B Mutation-confirmed congenital central hypoventilation syndrome
Description
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.
Study Design
Observational Model: Family-Based, Time Perspective: Cross-Sectional
Conditions
Central Alveolar Hypoventilation Syndrome
Intervention
CPAP
Location
Naitonal Taiwan University Hospital
Taipei
Taiwan
Taipei
Status
Recruiting
Source
National Taiwan University Hospital
Results (where available)
Links
- Source: http://clinicaltrials.gov/show/NCT00652964
- Information obtained from ClinicalTrials.gov on July 15, 2010
Medical and Biotech [MESH] Definitions
Obesity Hypoventilation Syndrome
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.
Pulmonary Alveoli
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.
Periodontal Ligament
The fibrous CONNECTIVE TISSUE surrounding the TOOTH ROOT, separating it from and attaching it to the alveolar bone (ALVEOLAR PROCESS).
Hypoventilation
A reduction in the amount of air entering the pulmonary alveoli.
Alveolar Bone Loss
Resorption or wasting of the tooth-supporting bone (ALVEOLAR PROCESS) in the MAXILLA or MANDIBLE.
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PubMed Articles
Introduction: Patients with the congenital central hypoventilation syndrome (CCHS) suffer from life-threatening hypoventilation when asleep, making them dependent on mechanical ventilation (MV) at nig...
Congenital Central Hypoventilation Syndrome with PHOX2B Gene Mutation.
A term baby developed hypoventilation on day 1 of life requiring mechanical ventilation and had subsequent difficulty in weaning. Diagnostic workup for pulmonary, cardiac, metabolic, sepsis and struct...
Late onset congenital central hypoventilation syndrome after exposure to general anesthesia.
PURPOSE: Prolonged postoperative hypoventilation presents a challenge to anesthesiologists with regard to assessing etiology and related treatment. We present a case of recurrent...
BACKGROUND: This study aimed to assess the prevalence of complex sleep apnoea (CompSA), defined as central sleep apnoea (CSA) emerging after the initiation of continuous positive airway pressure (CPAP...
Autonomic failures in Perry syndrome with DCTN1 mutation.
Perry syndrome is a familial parkinsonism associated with central hypoventilation, mental depression, and weight loss. Previously, this very rare syndrome has been reported in only 7 families worldwid...
