Chen Maida Lynn, Turkel Susan Beckwitt, Jacobson Julienne R, Keens Thomas G
Division of Pediatric Pulmonology, Children's Hospital Los Angeles, University of Southern California Keck School of Medicine, Los Angeles, California, USA.
Pediatr Pulmonol. 2006 Mar;41(3):283-5. doi: 10.1002/ppul.20366.
Congenital central hypoventilation syndrome (CCHS) is a rare disorder where there is failure of automatic control of breathing. With improved recognition of CCHS, more children are appropriately diagnosed and treated in infancy, allowing survival into adult years. Because most of these children are able to participate in regular school, they are exposed to common adolescent behaviors, such as abusing alcohol and drugs. Alcohol and many illicit substances are known respiratory depressants. We report on 3 cases of adolescents/young adults with CCHS who had severe adverse events related to alcohol, including coma and death. This series illustrates the dangers of alcohol abuse in CCHS. We speculate that adolescents with CCHS may be less able to perceive the risks of substance abuse and impulsive behavior, leading to increased morbidity and mortality. Patients with CCHS appear to lack anxiety and the awareness that their inability to perceive physiologically dangerous levels of hypercarbia and hypoxia deprives them of important protective mechanisms.
先天性中枢性低通气综合征（CCHS）是一种罕见的疾病，其呼吸自动控制功能出现障碍。随着对CCHS认识的提高，越来越多的儿童在婴儿期得到了恰当的诊断和治疗，从而得以存活至成年。由于这些儿童中的大多数能够正常上学，他们会接触到常见的青少年行为，如酗酒和吸毒。酒精和许多非法物质都是已知的呼吸抑制剂。我们报告了3例患有CCHS的青少年/青年成人，他们因酒精发生了严重不良事件，包括昏迷和死亡。该系列病例说明了CCHS患者酗酒的危险性。我们推测，患有CCHS的青少年可能较难察觉药物滥用和冲动行为的风险，从而导致发病率和死亡率上升。CCHS患者似乎缺乏焦虑感，也没有意识到自己无法察觉到生理上危险水平的高碳酸血症和低氧血症，从而使他们失去了重要的保护机制。
