一例短暂性新生儿发绀的临床表现及基因突变的临床特征：病例报告
Clinical characteristics on manifestation and gene mutation of a transient neonatal cyanosis: A case report.
作者信息
Yuan Jing, Zhu Xue-Ping
机构信息
Department of Neonatology, Children's Hospital of Soochow University, Suzhou 215025, Jiangsu Province, China.
出版信息
World J Clin Cases. 2020 Jan 6;8(1):217-221. doi: 10.12998/wjcc.v8.i1.217.
BACKGROUND
We analyzed the main features of an infant diagnosed with temporary neonatal cyanosis in order to strengthen our understanding of the disease.
CASE SUMMARY
We report a patient diagnosed with temporary neonatal cyanosis. The main clinical characteristics, gene mutation and treatment are discussed and a review of related literature was conducted. The neonate aged 1 d and 5 h was admitted to hospital due to cyanosis after birth. The main clinical manifestation was cyanosis, which was not improved by auxiliary ventilation and the patient showed no obvious shortness of breath or methemoglobinemia. Gene mutation analysis showed a heterozygous c.190C>T mutation in the gene associated with transient neonatal cyanosis, which was derived from his mother. Symptomatic supportive treatment was given for 2 mo. The neonate was discharged and gradually improved with oral administration of vitamin C and vitamin B2 for 2 wk.
CONCLUSION
There is no special treatment for temporary neonatal cyanosis caused by heterozygous mutation of the gene.
背景
我们分析了一名被诊断为暂时性新生儿紫绀的婴儿的主要特征，以加强我们对该疾病的认识。
病例摘要
我们报告了一名被诊断为暂时性新生儿紫绀的患者。讨论了其主要临床特征、基因突变及治疗情况，并对相关文献进行了综述。该新生儿出生1天5小时，因出生后紫绀入院。主要临床表现为紫绀，辅助通气不能改善，且患者无明显气促或高铁血红蛋白血症。基因突变分析显示与暂时性新生儿紫绀相关基因存在杂合c.190C>T突变，该突变来自其母亲。给予对症支持治疗2个月。新生儿出院，口服维生素C和维生素B2 2周后逐渐好转。
结论
由该基因杂合突变引起的暂时性新生儿紫绀无特殊治疗方法。
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