Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland.
Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.
Acta Biochim Pol. 2020 May 21;67(2):225-228. doi: 10.18388/abp.2020_5202.
Citrin deficiency can manifest in newborns or infants as neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). The paper presents a case of Polish NICCD patient presenting with low birth weight, failure to thrive, prolonged cholestatic jaundice with coagulopathy and hypoalbuminemia with normal results of MS/MS newborn screening but with high blood citrulline level observed at 3 months of age. Unreported findings included N-hypoglycosylation and increased serum very-long-chain fatty acids (VLCFA), probably secondary to liver impairment. Final diagnosis was established based on whole-exome sequencing (WES) analysis.
Citrin 缺乏症可在新生儿或婴儿中表现为 citrin 缺乏引起的新生儿肝内胆汁淤积症（NICCD）。本文报告了一例波兰 NICCD 患者，其表现为低出生体重、生长发育迟缓、迁延性胆汁淤积性黄疸伴凝血功能障碍和低白蛋白血症，新生儿串联质谱筛查结果正常，但在 3 个月龄时观察到血瓜氨酸水平升高。未报告的发现包括 N-糖基化缺乏和血清超长链脂肪酸（VLCFA）增加，可能继发于肝损伤。最终诊断基于全外显子组测序（WES）分析。
