Biochemical and molecular analyses of infantile sialic acid storage disease in a patient with nonimmune hydrops fetalis.
Clin Chim Acta
; 482: 199-202, 2018 Jul.
Article
em En
| MEDLINE
| ID: mdl-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 39â¯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.
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Base de dados:
MEDLINE
Assunto principal:
Hidropisia Fetal
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Doenças por Armazenamento dos Lisossomos
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Doença do Armazenamento de Ácido Siálico
Idioma:
En
Ano de publicação:
2018
Tipo de documento:
Article