患儿，男，生后3 h，因产前诊断胎儿水肿、出生窒息复苏后3 h入院。患儿母亲孕5个月产检提示胎儿有大量腹水，患儿生后表现为全身皮肤水肿、大量腹水、面容粗糙、肝大。基因检测提示SLC17A5基因杂合变异，尿游离唾液酸显著升高，胎盘病理回报绒毛间质细胞、霍夫鲍尔细胞、细胞滋养层细胞和合体滋养层细胞广泛空泡化，该患儿最终诊断为唾液酸贮积症。该例患儿为国内首次报道以胎儿水肿为首发症状的唾液酸贮积症新生儿。对非免疫性胎儿水肿病例需考虑唾液酸贮积症可能，胎盘病理、尿游离唾液酸等检查有助于早期诊断和指导临床决策。
Abstract
A boy, aged 3 hours, was admitted due to a prenatal diagnosis of fetal hydrops at 3 hours after resuscitation for birth asphyxia. Prenatal examination at 5 months of gestation showed massive ascites in the fetus, and after birth, the boy had the manifestations of systemic hydroderma, massive ascites, coarse face, and hepatomegaly. Genetic testing revealed heterozygous mutations in the SLC17A5 gene, and there was a significant increase in urinary free sialic acid. Placental pathology showed extensive vacuolization in villous stromal cells, Hofbauer cells, cytotrophoblast cells, and syncytiotrophoblast cells in human placental chorionic villi. The boy was finally diagnosed with free sialic acid storage disorders (FSASDs). This is the first case of FSASDs with the initial symptom of fetal hydrops reported in China. The possibility of FSASDs should be considered for cases with non-immune hydrops fetalis, and examinations such as placental pathology and urinary free sialic acid may help with early diagnosis and clinical decision making.
关键词
唾液酸贮积症 /
胎儿水肿 /
SLC17A5基因 /
新生儿
Key words
Free sialic acid storage disorder /
Fetal hydrops /
SLC17A5 gene /
Neonate
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参考文献
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