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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2015.1
- 수록면
- 162 - 167 (6page)
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Congenital central hypoventilation syndrome (CCHS) is a life-threatening disease that primarily manifests as sleep-associated respiratory insufficiency and a markedly impaired ventilatory response to hypercarbia and hypoxemia. Paired-like homeobox 2b (PHOX2B) gene mutations are known to cause CCHS. Almost all patients with CCHS are heterozygous for a poly-alanine expansion in PHOX2B. However, some patients have other germ-line abnormalities, including missense, nonsense and frame shift mutations. CCHS combined with Hirschsprung disease (Haddad syndrome) is extremely rare. Here, we report the case of a 1-day-old male neonate with recurrent apnea and bowel distension. Genetic analysis showed that he was heterozygous for a germ-line mutation in the PHOX2B gene. Only three cases of CCHS including two with Haddad syndrome confirmed by PHOX2B gene mutations have been reported in Korea. All of these cases have been heterozygous for a poly-alanine expansion mutation. This is the first report describing Haddad syndrome with a germ-line mutation in the PHOX2B gene in a Korean neonate.
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참고문헌 (20)
참고문헌 신청
Ahn YM / 1993 / A case of congenital central hypoventilation syndrome (ondine;s curse) with Hirschsprung’s disease / Pediatr Allery Respir Dis 3 : 113 ~ 120
Amiel J / 2003 / Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome / Nat Genet 33 : 459 ~
Croaker GD / 1998 / Congenital central hypoventilation syndrome and Hirschsprung’s disease / Arch Dis Child 78 : 316 ~ 322
Diep B / 2015 / Diaphragm pacing without tracheostomy in congenital central hypoventilation syndrome patients / Respiration 89 : 534 ~ 538
Haddad GG / 1978 / Congenital failure of automatic control of ventilation, gastrointestinal motility and heart rate / Medicine (Baltimore) 57 : 517 ~ 526
Amiel J / 2003 / Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome / Nat Genet 33 : 459 ~
Croaker GD / 1998 / Congenital central hypoventilation syndrome and Hirschsprung’s disease / Arch Dis Child 78 : 316 ~ 322
Diep B / 2015 / Diaphragm pacing without tracheostomy in congenital central hypoventilation syndrome patients / Respiration 89 : 534 ~ 538
Haddad GG / 1978 / Congenital failure of automatic control of ventilation, gastrointestinal motility and heart rate / Medicine (Baltimore) 57 : 517 ~ 526
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