Abstract：
To provide an overview of the discovery, presentation, and management of Rapid-onset Obesity with Hypothalamic dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD). To discuss a search for causative etiology spanning multiple disciplines and continents.
The literature (1965-2022) on the diagnosis, management, pathophysiology, and potential etiology of ROHHAD was methodically reviewed. The experience of several academic centers with expertise in ROHHAD is presented, along with a detailed discussion of scientific discovery in the search for a cause.
ROHHAD is an ultra-rare syndrome with fewer than 200 known cases. Although variations occur, the acronym ROHHAD is intended to alert physicians to the usual sequence or unfolding of the phenotypic presentation, including the full phenotype. Nearly 60 years after its first description, more is known about the pathophysiology of ROHHAD, but the etiology remains enigmatic. The search for a genetic mutation common to patients with ROHHAD has not, to date, demonstrated a disease-defining gene. Similarly, a search for the autoimmune basis of ROHHAD has not resulted in a definitive answer. This review summarizes current knowledge and potential future directions.
ROHHAD is a poorly understood, complex, and potentially devastating disorder. The search for its cause intertwines with the search for causes of obesity and autonomic dysregulation. The care for the patient with ROHHAD necessitates collaborative international efforts to advance our knowledge and, thereby, treatment, to decrease the disease burden and eventually to stop, and/or reverse the unfolding of the phenotype.
The literature (1965-2022) on the diagnosis, management, pathophysiology, and potential etiology of ROHHAD was methodically reviewed. The experience of several academic centers with expertise in ROHHAD is presented, along with a detailed discussion of scientific discovery in the search for a cause.
ROHHAD is an ultra-rare syndrome with fewer than 200 known cases. Although variations occur, the acronym ROHHAD is intended to alert physicians to the usual sequence or unfolding of the phenotypic presentation, including the full phenotype. Nearly 60 years after its first description, more is known about the pathophysiology of ROHHAD, but the etiology remains enigmatic. The search for a genetic mutation common to patients with ROHHAD has not, to date, demonstrated a disease-defining gene. Similarly, a search for the autoimmune basis of ROHHAD has not resulted in a definitive answer. This review summarizes current knowledge and potential future directions.
ROHHAD is a poorly understood, complex, and potentially devastating disorder. The search for its cause intertwines with the search for causes of obesity and autonomic dysregulation. The care for the patient with ROHHAD necessitates collaborative international efforts to advance our knowledge and, thereby, treatment, to decrease the disease burden and eventually to stop, and/or reverse the unfolding of the phenotype.
摘要：
目的：为了概述这一发现，介绍,和下丘脑功能障碍的快速发作肥胖的管理，通气不足,和自主失调（ROHHAD）。讨论寻找跨越多个学科和大洲的病因。
方法：关于诊断的文献（1965-2022），管理,病理生理学,并对ROHHAD的潜在病因进行了系统综述。介绍了在ROHHAD拥有专业知识的几个学术中心的经验，并详细讨论了寻找原因的科学发现。
结果：ROHHAD是一种超罕见综合征，已知病例少于200例。虽然有变化,缩写ROHHAD旨在提醒医生注意表型表现的通常顺序或展开，包括完整的表型。在它第一次描述后将近60年，更多关于罗哈德的病理生理学，但病因仍然是个谜.寻找ROHHAD患者常见的基因突变并没有，到目前为止,证明了疾病定义基因。同样，对ROHHAD自身免疫基础的研究尚未得出明确的答案.这篇综述总结了当前的知识和潜在的未来方向。
结论：ROHHAD了解甚少，复杂，和潜在的毁灭性疾病。寻找其原因与寻找肥胖和自主神经失调的原因交织在一起。对ROHHAD患者的护理需要国际合作努力来提高我们的知识，因此，治疗,为了减轻疾病负担并最终停止，和/或逆转表型的解折叠。
方法：关于诊断的文献（1965-2022），管理,病理生理学,并对ROHHAD的潜在病因进行了系统综述。介绍了在ROHHAD拥有专业知识的几个学术中心的经验，并详细讨论了寻找原因的科学发现。
结果：ROHHAD是一种超罕见综合征，已知病例少于200例。虽然有变化,缩写ROHHAD旨在提醒医生注意表型表现的通常顺序或展开，包括完整的表型。在它第一次描述后将近60年，更多关于罗哈德的病理生理学，但病因仍然是个谜.寻找ROHHAD患者常见的基因突变并没有，到目前为止,证明了疾病定义基因。同样，对ROHHAD自身免疫基础的研究尚未得出明确的答案.这篇综述总结了当前的知识和潜在的未来方向。
结论：ROHHAD了解甚少，复杂，和潜在的毁灭性疾病。寻找其原因与寻找肥胖和自主神经失调的原因交织在一起。对ROHHAD患者的护理需要国际合作努力来提高我们的知识，因此，治疗,为了减轻疾病负担并最终停止，和/或逆转表型的解折叠。
