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先天性甲状腺功能减退症

Congenital Hypothyroidism.

作者信息

Brady Jacqueline, Cannupp Ashton, Myers Jordan, Jnah Amy J

出版信息

Neonatal Netw. 2021 Nov 1;40(6):377-385. doi: 10.1891/11-T-699.

Abstract

Congenital hypothyroidism (CH) is a disorder of thyroid hormone deficiency which develops secondary to incomplete thyroid development or inadequate thyroid hormone production. State-mandated newborn screening throughout the United States has increased the detection rate of CH, allowing for early intervention. Although the overall mortality rate of CH is low, delayed or omitted treatment can lead to devastating neurocognitive outcomes. As such, CH is regarded as the leading cause of preventable intellectual disability in children. Early identification, facilitated by astute neonatal nursing and medical care, is contingent upon an active working knowledge of the disease process and awareness of the limitations of the newborn screen.

摘要

先天性甲状腺功能减退症(CH)是一种甲状腺激素缺乏症,其继发于甲状腺发育不完全或甲状腺激素产生不足。美国各州规定的新生儿筛查提高了CH的检出率,从而实现了早期干预。尽管CH的总体死亡率较低,但治疗延迟或遗漏会导致严重的神经认知后果。因此,CH被认为是儿童可预防智力残疾的主要原因。敏锐的新生儿护理和医疗有助于早期识别,这取决于对疾病过程的积极实用知识以及对新生儿筛查局限性的认识。

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