PHOX2B Mutation-Confirmed Congenital Central Hypoventilation Syndrome in A Chinese Family: Presentations From Newborn to Adulthood

National Taiwan University

Status: Unknown

Conditions: Central Alveolar Hypoventilation Syndrome

Treatments: Device: CPAP

Study type: Observational

Funder types: Other

Identifiers

NCT00652964

200801064R

Details and patient eligibility

About

Detect the PHOX2B Mutation-confirmed congenital central hypoventilation syndrome

Full 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.

Enrollment: 20 estimated patients

Sex: All

Volunteers: No Healthy Volunteers

Inclusion criteria

• Members of familiar congenital central hypoventilation syndrome

Exclusion criteria

• Refuse to participate study

Trial design

20 participants in 1 patient group

Observation

Description:

a family of congenital central hypoventilation syndrome

Treatment:

Device: CPAP