对非免疫性胎儿水肿患者的婴儿唾液酸贮积病的生化和分子分析。

Biochemical and molecular analyses of infantile sialic acid storage disease in a patient with nonimmune hydrops fetalis.

机构信息

Department of Pediatrics, Hanyang University Guri Hospital, Hanyang University College of Medicine, Guri, South Korea.

Department of Pediatrics, Jeju National University Hospital, Jeju National University School of Medicine, Jeju, South Korea.

出版信息

Clin Chim Acta. 2018 Jul;482:199-202. doi: 10.1016/j.cca.2018.04.016. Epub 2018 Apr 11.

DOI:10.1016/j.cca.2018.04.016

PMID:29654786

Abstract

Nonimmune hydrops fetalis is the most severe clinical manifestation of lysosomal storage diseases (LSDs). Around 14 different LSDs have been accounted for as 1-15% of the cause of nonimmune hydrops fetalis. We report a Korean infant affected by an extremely rare but severe form of sialic acid storage disease. The patient presented with nonimmune hydrops fetalis, dysmorphic facial features, hepatosplenomegaly, and dysostosis multiplex and died at 39 days of age due to persistent pulmonary hypertension. LSD was suspected based on the presence of diffuse vacuolation of syncytiotrophoblast, villous stromal cells, and intermediate trophoblast in placental biopsy. Increased excretion of urinary free sialic acid was detected by liquid chromatography-tandem mass spectrometry. The patient was compound heterozygous of the c.908G>A (p.Trp303Ter) and the splicing mutation c.1259+5G>T (IVS9+5 G>T) in the SLC17A5 gene.

摘要

非免疫性胎儿水肿是溶酶体贮积病（LSD）最严重的临床表现。约有 14 种不同的 LSD 被认为是导致非免疫性胎儿水肿的 1-15%的原因。我们报告了一例韩国婴儿患有极为罕见但严重的唾液酸贮积症。该患者表现为非免疫性胎儿水肿、面部畸形、肝脾肿大和多发性骨发育不良，并因持续性肺动脉高压于 39 天死亡。根据胎盘活检中合体滋养层细胞、绒毛间质细胞和中间滋养层弥漫空泡化，怀疑存在 LSD。通过液相色谱-串联质谱法检测到尿游离唾液酸排泄增加。该患者在 SLC17A5 基因中存在 c.908G>A（p.Trp303Ter）和剪接突变 c.1259+5G>T（IVS9+5 G>T）的复合杂合性。