唾液酸贮积症伴胎儿水肿1例
毛玮莹1 , 何玥1 , 张澜1 , 贺其志2 , 孙路明3 , 张蓉1
1.国家儿童医学中心/复旦大学附属儿科医院新生儿科，上海 201102
Free sialic acid storage disorders with fetal hydrops in a neonate
MAO Wei-Ying, HE Yue, ZHANG Lan, HE Qi-Zhi, SUN Lu-Ming, ZHANG Rong
Department of Neonatology, Children's Hospital of Fudan University/National Children's Medical Center, Shanghai 201102, China
摘要 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。
关键词 ：
唾液酸贮积症 ,
胎儿水肿 ,
SLC17A5 基因新生儿
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.
Key words ：
Free sialic acid storage disorder
Fetal hydrops
SLC17A5 geneNeonate
收稿日期: 2023-03-08
通讯作者:
张蓉，女，主任医师。Email：zhang_rong@fudan.edu.cn。
E-mail: zhang_rong@fudan.edu.cn
作者简介 : 毛玮莹，女，硕士，医师；
Aula P, Autio S, Raivio KO, et al. "Salla disease": a new lysosomal storage disorder[J]. Arch Neurol, 1979, 36(2): 88-94. PMID: 420628. DOI: 10.1001/archneur.1979.00500380058006.
Tondeur M, Libert J, Vamos E, et al. Infantile form of sialic acid storage disorder: clinical, ultrastructural, and biochemical studies in two siblings[J]. Eur J Pediatr, 1982, 139(2): 142-147. PMID: 7151835. DOI: 10.1007/BF00441499.
Froissart R, Cheillan D, Bouvier R, et al. Clinical, morphological, and molecular aspects of sialic acid storage disease manifesting in utero[J]. J Med Genet, 2005, 42(11): 829-836. PMID: 15805149. PMCID: PMC1735939. DOI: 10.1136/jmg.2004.029744.
Hasnain A, Burnett S, Agatep R, et al. Prenatal hydrops fetalis associated with infantile free sialic acid storage disease due to a novel homozygous deletion in the SLC17A5 gene[J]. Cold Spring Harb Mol Case Stud, 2021, 7(5): a006106. PMID: 34667062. PMCID: PMC8559617. DOI: 10.1101/mcs.a006106.
Miyaji T, Echigo N, Hiasa M, et al. Identification of a vesicular aspartate transporter[J]. Proc Natl Acad Sci U S A, 2008, 105(33): 11720-11724. PMID: 18695252. PMCID: PMC2575331. DOI: 10.1073/pnas.0804015105.
Aula N, Salom?ki P, Timonen R, et al. The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation[J]. Am J Hum Genet, 2000, 67(4): 832-840. PMID: 10947946. PMCID: PMC1287888. DOI: 10.1086/303077.
7 Adams D, Wasserstein M. Free Sialic Acid Storage Disorders[M]//AdamMP, MirzaaGM, PagonRA, alet. GeneReviews?[Internet]. Seattle (WA): University of Washington, Seattle, 1993-2023.
Mochel F, Yang B, Barritault J, et al. Free sialic acid storage disease without sialuria[J]. Ann Neurol, 2009, 65(6): 753-757. PMID: 19557856. PMCID: PMC3508714. DOI: 10.1002/ana.21624.
Chock VY, Milan KE, Folkins AK, et al. Prenatal hydrops foetalis associated with infantile free sialic acid storage disease[J]. J Obstet Gynaecol, 2015, 35(8): 850-852. PMID: 26076308. DOI: 10.3109/01443615.2015.1017558.
Renlund M, Tietze F, Gahl WA. Defective sialic acid egress from isolated fibroblast lysosomes of patients with Salla disease[J]. Science, 1986, 232(4751): 759-762. PMID: 3961501. DOI: 10.1126/science.3961501.
Aula N, Aula P. Prenatal diagnosis of free sialic acid storage disorders (SASD)[J]. Prenat Diagn, 2006, 26(8): 655-658. PMID: 16715535. DOI: 10.1002/pd.1431.
Zielonka M, Garbade SF, K?lker S, et al. A cross-sectional quantitative analysis of the natural history of free sialic acid storage disease—an ultra-orphan multisystemic lysosomal storage disorder[J]. Genet Med, 2019, 21(2): 347-352. PMID: 29875421. DOI: 10.1038/s41436-018-0051-3.
Al-Kouatly HB, Felder L, Makhamreh MM, et al. Lysosomal storage disease spectrum in nonimmune hydrops fetalis: a retrospective case control study[J]. Prenat Diagn, 2020, 40(6): 738-745. PMID: 32134517. PMCID: PMC7260084. DOI: 10.1002/pd.5678.
Lemyre E, Russo P, Melan?on SB, et al. Clinical spectrum of infantile free sialic acid storage disease[J]. Am J Med Genet, 1999, 82(5): 385-391. PMID: 10069709.
[1]
王彦梅, 朱艳萍, 江立英, 杨月霞. 新生儿新型冠状病毒Omicron变异株感染23例临床分析
[2]
中华医学会儿科学分会新生儿学组青年委员会. 新生儿高氨血症诊断与治疗的专家共识
[3]
郭孟杨, 高薇, 袁林, 姚开虎. 新生儿B族链球菌感染流行病学和预防策略近十年来的研究进展
[4]
王学娟, 邵志英, 朱敏蓉, 游铭钰, 张宇涵, 陈筱青. 基于高通量测序分析早期新生儿肠道和咽部微生物菌群
[5]
相虹, 吴泽明, 陈海, 朱海金, 常明. 中性粒细胞胞外诱捕网在新生儿急性呼吸窘迫综合征中的表达及意义
[6]
史明睿, 徐海冬, 王红, 黑明燕. 新型冠状病毒感染期间足月的晚期新生儿咽拭子肠道病毒核酸检测横断面研究
[7]
林雨焮, 冯骁, 张艺丹, 洪婉蓉, 赵红缨. 新生儿缺氧缺血性脑病不同复温时间亚低温治疗临床效果的前瞻性随机对照研究
[8]
高瑞伟, 巴音, 张蓉, 曹云, 杨琳, 吴冰冰, 周文浩, 周建国. 新生儿鸟氨酸氨甲酰基转移酶缺乏症
[9]
林雨焮, 冯骁, 张艺丹, 洪婉蓉, 赵红缨. 新生儿缺氧缺血性脑病不同复温时间亚低温治疗临床效果的前瞻性随机对照研究（英文翻译）
[10]
黄海波, 朱小瑜, 张宝贤. 羊水胎粪污染新生儿复苏的前世今生：过去60年中美两国的演变史
[11]
黄海波, 朱小瑜, 张宝贤. 羊水胎粪污染新生儿复苏的前世今生：过去60年中美两国的演变史（英文翻译）
[12]
方秀英, 田艺丽, 陈淑媛, 石权, 郑铎, 王英杰, 毛健. 应用于新生儿缺氧缺血性脑病的脑电背景分析新方法
[13]
肖非凡, 卢宇蓝, 吴冰冰, 董欣然, 程国强, 胡黎园, 周文浩, 彭小敏, 杨琳, 王慧君. 采用全基因组测序技术快速诊断危重症新生儿的临床实践
[14]
卢园园, 张作慧, 李雪, 管娜. BCOR 基因突变致新生儿眼-面-心-牙综合征1例
[15]
国家儿童健康与疾病临床医学研究中心/儿童发育疾病研究教育部重点实验室/儿科学重庆市重点实验室/重庆医科大学附属儿童医院. 中国新生儿疼痛管理循证指南（2023年）
