https://scholars.lib.ntu.edu.tw/handle/123456789/541653
標題: | Congenital central hypoventilation syndrome with PHOX2B gene mutation in a Taiwanese infant | 作者: | Chen L.-R. PO-NIEN TSAO Su Y.-N. PI-CHUAN FAN HUNG-CHIEH CHOU CHIEN-YI CHEN Chang Y.-H. Hsieh W.-S. |
公開日期: | 2007 | 出版社: | Scientific Communications International Ltd | 卷: | 106 | 期: | 1 | 起(迄)頁: | 69-73 | 來源出版物: | Journal of the Formosan Medical Association | 摘要: | Congenital central hypoventilation syndrome (CCHS) is a rare disease that is characterized by failure in the autonomic control of breathing. Recent reports have identified mutation of the paired mesoderm homeobox protein 2b (PHOX2B) gene as playing a major role in CCHS. Increasing polyalanine repeat number is associated with a more severe clinical phenotype. We report a newborn male infant with the clinical manifestations of apnea and cyanosis requiring immediate endotracheal intubation at the age of 1 day. Recurrent hypoventilation with hypercapnia and hypoxemia occurred during sleep after weaning from the ventilator. No primary cardiopulmonary disease was identified. These clinical manifestations are compatible with CCHS. PHOX2B gene mutation analysis performed at the age of 4 months revealed expanded alleles containing polyalanine 26 repeats, further supporting the diagnosis of CCHS. Continuous ventilator support was necessary and tracheostomy was ultimately performed at the age of 5 months due to ventilator dependence. He was discharged with home ventilator support at the age of 6 months. ? 2007 Elsevier & Formosan Medical Association. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-33846873911&doi=10.1016%2fS0929-6646%2809%2960218-7&partnerID=40&md5=17878e4c4239c64a5f3970a2080d6823 https://scholars.lib.ntu.edu.tw/handle/123456789/541653 |
ISSN: | 0929-6646 | DOI: | 10.1016/S0929-6646(09)60218-7 | SDG/關鍵字: | homeobox 2b protein; homeodomain protein; protein phox2b; unclassified drug; allele; apnea; article; artificial ventilation; carbon dioxide tension; case report; clinical feature; congenital central hypoventilation; cyanosis; DNA sequence; endotracheal intubation; gene mutation; genetic analysis; human; hypercapnia; hypoventilation; hypoxemia; infant; male; newborn; phenotype; symptomatology; Taiwan; tracheostomy |
顯示於: | 醫學系 |
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