ROHHAD综合征——快速肥胖伴低通气、下丘脑功能障碍及自主神经功能失调综合征

ROHHAD syndrome: rapid-onset obesity with hypoventilation, hypothalamic dysfunction, autonomic dysregulation syndrome

ROHHAD综合征是一种以快速发生肥胖,伴低通气、下丘脑功能障碍以及自主神经功能失调为特征的罕见疾病,病因尚未阐明且存在一定争议,新近俄罗斯学者报道了1例与新型冠状病毒相关的类ROHHAD综合征。一半以上此综合征患者存在神经内分泌肿瘤,合并疾病多且病死率高,预后不良。本文系统地介绍了该综合征的病因、临床表现、诊断以及当前治疗。

Rapid-onset obesity with hypoventilation,hypothalamic dysfunction,autonomic dysregulation(ROHHAD)syndrome is a rare disease with unknown and debated etiology,characterized by rapid-onset obesity with hypoventilation,hypothalamic dysfunction,autonomic dysregulation.Recently,Russian scholars reported a case of COVID-19-associated ROHHAD-like syndrome.Neuroendocrine tumors can be associated in more than half of the cases.This rare condition has a severe outcome because of high morbidity and mortality.In this article provides a comprehensive description of the etiopathogenetic theories of the disease,clinical presentation,diagnostic workup and treatment possibilities.