Pathophysiology of congenital central hypoventilation syndrome

2016 Fiscal Year Final Research Report

• Project/Area Number: 25461640
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Embryonic/Neonatal medicine
• Research Institution: Yamagata University
• Principal Investigator: Sasaki Ayako 山形大学, 医学部, 准教授 (60333960)
• Research Collaborator: KISHIKAWA Yumiko
• Project Period (FY): 2013-04-01 – 2017-03-31
• Keywords: 先天性中枢性低換気症候群 / PHOX2B

Outline of Final Research Achievements

We examined the genotype-phenotype relationship in 92 Japanese patients with congenital central hypoventilation syndrome (CCHS) carrying PHOX2B mutations; 86 cases with PARMs and 6 with NPARMs. The estimated incidence of CCHS was greater than one case per 148 000 births. In 25 PARM, the male-to-female ratio was ~ 3 and mental retardation was frequently accompanied. In 26 or more PARMs or NPARMs, the male-to-female ratio was equal and the patients were frequently complicated with Hirschsprung disease and had hypoventilation in the neonatal period. The patients carrying 25 PARM frequently had mental retardation likely because they were not able to receive appropriate ventilation support following a definitive diagnosis owing to subtle and or irregular hypoventilation. Molecular diagnosis provides a definitive diagnosis and enables to receive appropriate ventilator support.

Free Research Field

新生児呼吸学