Patwari Pallavi P, Wolfe Lisa F
Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.
Curr Opin Pediatr. 2014 Aug;26(4):487-92. doi: 10.1097/MOP.0000000000000118.
The focus of this review is to compare and contrast two orphan disorders of late-onset hypoventilation. Specifically, rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) and congenital central hypoventilation syndrome (CCHS) are distinct in presentation, pathophysiology, and etiology.
While limited new information is available, appreciation and understanding of rare disorders can be attained through case reports. Recent literature in ROHHAD has included case reports with new findings that may provide insight into pathophysiology involving possible aberrant immune process and dysregulation at the level of the orexinergic system.
The etiology of ROHHAD continues to be elusive. The hope is that, with growing recognition, discussion, and investigation into the overlap of ROHHAD with disorders outside congenital central hypoventilation syndrome, further advancement will be made.
本综述的重点是比较和对比两种迟发性通气不足的罕见疾病。具体而言，快速进展性肥胖伴下丘脑功能障碍、通气不足和自主神经失调（ROHHAD）与先天性中枢性通气不足综合征（CCHS）在临床表现、病理生理学和病因方面存在差异。
虽然可用的新信息有限，但通过病例报告可以增进对罕见疾病的认识和理解。ROHHAD的近期文献包括有新发现的病例报告，这些发现可能有助于深入了解涉及可能异常免疫过程和食欲素能系统水平失调的病理生理学。
ROHHAD的病因仍然难以捉摸。希望随着对ROHHAD与先天性中枢性通气不足综合征以外疾病重叠的认识、讨论和研究不断增加，能取得进一步进展。
