伴下丘脑功能障碍的非先天性中枢性低通气

定义

非先天性中枢性低通气伴下丘脑功能障碍是一种中枢性通气控制障碍。患者在幼儿期（通常为 2-3 岁）前通常健康，此时出现多食和严重肥胖，继而出现中枢性通气不足，通常表现为呼吸衰竭。下丘脑内分泌功能障碍可表现为激素水平升高或降低，可能包括以下一种或多种情况：尿崩症、抗利尿激素不当分泌综合征、性早熟、性腺功能减退、高泌乳素血症、甲状腺功能减退、生长激素分泌减少或神经源性肿瘤。经常出现情绪和行为异常，有时甚至严重。可能存在发育迟缓或自闭症特征，但许多患者的认知正常。 注：确诊需要基于二氧化碳（CO2）监测的多导睡眠呼吸监测（通过动脉、呼气末或经皮测量）的客观证据。

Non-congenital central hypoventilation with hypothalamic dysfunction is a disorder of central control of ventilation. Patients are usually healthy until early childhood (often 2-3 years of age) when they develop hyperphagia and severe obesity, followed by central hypoventilation, which often presents as respiratory failure. Hypothalamic endocrine dysfunction may be characterised by increased or decreased hormone levels and may include one or more of the following: diabetes insipidus, inappropriate antidiuretic hormone hypersecretion, precocious puberty, hypogonadism, hyperprolactinemia, hypothyroidism, and decreased growth hormone secretion, or tumours of neural origin. Mood and behaviour abnormalities, sometimes severe, are often present. Developmental delay or autistic features may be present, but many patients are cognitively normal. Note: A definitive diagnosis requires objective evidence based on polysomnography with carbon dioxide (CO2) monitoring (by arterial, end-tidal or transcutaneous measures).

索引词 可用于检索该条目的同义词与别名

• 伴下丘脑功能障碍的非先天性中枢性低通气
• 迟发性中枢性低通气伴下丘脑畸形
• 迟发性中枢性低通气伴有下丘脑畸形