Chen Yanru, Lv Jingwen, Qian Jihong
Department of Neonatology, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai, China.
Front Pediatr. 2024 Feb 13;12:1334757. doi: 10.3389/fped.2024.1334757. eCollection 2024.
We will discuss a recent case of unexplained neonatal cyanosis, evaluate its origin, clinical presentation, diagnosis, and treatment, and share with you some of our clinical insights. We report a transient cyanosis in a newborn due to a mutation in the globulin gene (HBG2), as well as diagnosis and treatment. Clinically, the infant was in good overall health, and despite low oxygen saturation, the arterial oxygen partial pressure was always normal. Early respiratory support includes mechanical ventilation, nasal tube oxygen, and eventually stopping oxygen therapy. With the above treatment measures, the blood oxygen saturation of the child always fluctuated at 85%, but the arterial blood oxygen partial pressure was up to 306 mmHg. Further improvement of laboratory tests revealed elevated methemoglobin levels, reticulocytosis, mild anemia, and basically normal on chest x-ray and echocardiography. To clarify the etiology, WES testing was performed. The results showed heterozygous variation in HBG2 gene (c.190C>T. p.H64Y). There is heterozygous variation at this site in the proband father, and no variation at this site in the proband mother. Given the age of the affected infants, we hypothesized that the mutation originated in the gamma peptide chain of the head protein. The baby was discharged from the hospital 10 days after birth, with blood oxygen saturation fluctuating around 90%. The cyanosis disappeared 2 months after discharge, and the blood oxygen saturation level returned to normal.
我们将讨论一个近期出现的不明原因新生儿青紫病例，评估其病因、临床表现、诊断及治疗情况，并与您分享我们的一些临床见解。我们报告一例因球蛋白基因（HBG2）突变导致的新生儿短暂性青紫病例，以及相关诊断和治疗过程。临床上，该婴儿总体健康状况良好，尽管氧饱和度较低，但动脉血氧分压始终正常。早期呼吸支持包括机械通气、鼻导管给氧，最终停止氧疗。采取上述治疗措施后，患儿血氧饱和度始终波动在85%，但动脉血氧分压高达306 mmHg。进一步的实验室检查显示高铁血红蛋白水平升高、网织红细胞增多、轻度贫血，胸部X线和超声心动图基本正常。为明确病因，进行了全外显子组测序（WES）检测。结果显示HBG2基因存在杂合变异（c.190C>T，p.H64Y）。先证者父亲该位点存在杂合变异，先证者母亲该位点无变异。鉴于患病婴儿的年龄，我们推测该突变起源于头部蛋白的γ肽链。婴儿出生后10天出院，血氧饱和度波动在90%左右。出院2个月后青紫消失，血氧饱和度水平恢复正常。
