患儿男，1日龄，因生后6 h出现低血糖伴呼吸暂停入院。患儿生后早期有一过性低血糖，生后第8天突发急性心功能不全，实验室检查示促肾上腺皮质激素和皮质醇水平显著降低，垂体磁共振成像正常。基因检测结果示患儿存在TBX19基因可疑致病性复合杂合突变（c.917-2A>G+c.608C>T），分别来自父母。该患儿明确诊断为TBX19基因变异导致的先天性孤立性促肾上腺皮质激素缺乏症。给予氢化可的松替代治疗后，心功能迅速恢复正常。出院后继续予氢化可的松替代治疗，随访至18月龄，生长发育良好。新生儿期不明原因的急性心功能不全需警惕内分泌遗传代谢性疾病，应及时行皮质醇及基因检测。
Abstract
The male patient, one day old, was admitted to the hospital due to hypoglycemia accompanied by apnea appearing six hours after birth. The patient had transient hypoglycemia early after birth, and acute heart failure suddenly occurred on the eighth day after birth. Laboratory tests showed significantly reduced levels of adrenocorticotropic hormone and cortisol, and pituitary magnetic resonance imaging was normal. Genetic testing results showed that the patient had probably pathogenic compound heterozygous mutations of the TBX19 gene (c.917-2A>G+c.608C>T), inherited respectively from the parents. The patient was conclusively diagnosed with congenital isolated adrenocorticotropic hormone deficiency caused by mutation of the TBX19 gene. Upon initiating hydrocortisone replacement therapy, cardiac function rapidly returned to normal. After being discharged, the patient continued with the hydrocortisone replacement therapy. By the 18-month follow-up, the patient was growing and developing well. In neonates, unexplained acute heart failure requires caution for possible endocrine hereditary metabolic diseases, and timely cortisol testing and genetic testing should be conducted.
关键词
心功能不全 /
TBX19基因 /
先天性孤立性促肾上腺皮质激素缺乏症 /
新生儿
Key words
Heart failure /
TBX19 gene /
Congenital isolated adrenocorticotropic hormone deficiency /
Neonate
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