Buonocore Federica, McGlacken-Byrne Sinead M, Del Valle Ignacio, Achermann John C
Genetics & Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.
Front Pediatr. 2020 Dec 14;8:619041. doi: 10.3389/fped.2020.619041. eCollection 2020.
Adrenal insufficiency (AI) is a potentially life-threatening condition that can be difficult to diagnose, especially if it is not considered as a potential cause of a child's clinical presentation or unexpected deterioration. Children who present with AI in early life can have signs of glucocorticoid deficiency (hyperpigmentation, hypoglycemia, prolonged jaundice, poor weight gain), mineralocorticoid deficiency (hypotension, salt loss, collapse), adrenal androgen excess (atypical genitalia), or associated features linked to a specific underlying condition. Here, we provide an overview of causes of childhood AI, with a focus on genetic conditions that present in the first few months of life. Reaching a specific diagnosis can have lifelong implications for focusing management in an individual, and for counseling the family about inheritance and the risk of recurrence.
肾上腺功能不全（AI）是一种可能危及生命的疾病，可能难以诊断，尤其是当它未被视为儿童临床表现或意外病情恶化的潜在原因时。幼年出现AI的儿童可能有糖皮质激素缺乏的体征（色素沉着、低血糖、黄疸持续时间延长、体重增加不佳）、盐皮质激素缺乏的体征（低血压、失盐、虚脱）、肾上腺雄激素过多的体征（生殖器发育异常）或与特定潜在疾病相关的特征。在此，我们概述儿童AI的病因，重点关注出生后头几个月出现的遗传疾病。做出明确诊断对于确定个体的治疗重点以及为家庭提供关于遗传和复发风险的咨询具有终身意义。
