Pathophysiology of congenital central hypoventilation syndrome
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)
|
Co-Investigator(Kenkyū-buntansha) |
早坂 清 山形大学, 医学部, 名誉教授 (20142961)
|
Research Collaborator |
KISHIKAWA Yumiko
|
Project Period (FY) |
2013-04-01 – 2017-03-31
|
Project Status |
Completed (Fiscal Year 2016)
|
Budget Amount *help |
¥5,070,000 (Direct Cost: ¥3,900,000、Indirect Cost: ¥1,170,000)
Fiscal Year 2015: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2014: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2013: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
|
Keywords | 先天性中枢性低換気症候群 / PHOX2B / PHOX2B遺伝子 / アラニン伸長変異 |
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.
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Report
(5 results)
Research Products
(9 results)