Moreno Rubén, Lardennois Caroline, Drouin-Garraud Valérie, Verspyck Eric, Marret Stéphane, Laquerrière Annie
Department of Obstetrics and Gynecology, Rouen University Hospital Charles Nicolle, France.
Acta Paediatr. 2008 Aug;97(8):1136-9. doi: 10.1111/j.1651-2227.2008.00829.x. Epub 2008 Jun 28.
To report two cases of prenatal Niemann-Pick disease type C in siblings, with different prenatal semiology and postnatal outcome.
First fetus presented at 22 weeks'gestation with ascites, hepatosplenomegaly, then polyhydramnios. At birth, the infant developed severe cholestasis and died at day 5. His brother presented at 22 weeks'gestation an isolated hepatomegaly with cholestasis at birth showing favourable evolution. In first case, diagnosis of Niemann-Pick disease was confirmed by autopsy findings, biochemical tests on cultured skin fibroblasts and ascites fluid, then by molecular screening of NPC1 gene. Brother's molecular prenatal diagnosis was made at 14 weeks' gestation on cultured trophoblasts.
Prenatal screening of this disease is particularly indicated in case of fetal ascites with hypoferritinaemia. Tests on amniotic or ascites fluid cells allow to characterize the biochemical phenotype, leading to search for molecular abnormalities. Despite the same mutation identified in siblings, disease evolution is variable, which underlines complexity of genetic counselling.
报告两例同胞胎产前尼曼-匹克病C型病例，其产前症状学和产后结局不同。
首例胎儿在孕22周时出现腹水、肝脾肿大，随后出现羊水过多。出生时，该婴儿出现严重胆汁淤积，并于出生后第5天死亡。他的弟弟在孕22周时出现孤立性肝肿大，出生时伴有胆汁淤积，病情呈良性发展。在第一例中，通过尸检结果、培养的皮肤成纤维细胞和腹水的生化检测，然后通过NPC1基因的分子筛查，确诊为尼曼-匹克病。弟弟的分子产前诊断在孕14周时通过培养的滋养层细胞完成。
对于伴有低铁蛋白血症的胎儿腹水病例，特别建议进行该疾病的产前筛查。对羊水或腹水细胞进行检测可确定生化表型，从而寻找分子异常。尽管在同胞胎中发现了相同的突变，但疾病进展存在差异，这突出了遗传咨询的复杂性。
