Wang Neng-Li, Chen Lian, Lu Yi, Xie Xin-Bao, Lin Jing, Abuduxikuer Kuerbanjiang, Wang Jian-She
Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, Shanghai, China.
Department of Pathology, Children's Hospital of Fudan University, Shanghai, China.
Front Genet. 2022 Mar 18;13:867413. doi: 10.3389/fgene.2022.867413. eCollection 2022.
Early diagnosis of Niemann-Pick disease type C (NP-C) in neonatal cholestasis is still challenging because splenomegaly is non-specific and oxysterol profiling studies also have a relatively low specificity. This study explores a method for identifying infants with a high clinical suspicion of NP-C in neonatal cholestasis. We reviewed the clinical findings of 9 neonatal cholestatic infants with NP-C genetically diagnosed between January 2015 and December 2020. Seven underwent liver biopsy at ages ranging from 35 to 112 d. Foam cells were only detected in 2 (28.6%, 2/7) liver tissues obtained beyond 3 months of age. However, vacuolated Kupffer cells were detected in all 7 liver tissues. Their significance was explored by using 168 neonatal cholestatic infants, who underwent genetic tests and liver biopsy between January 2018 and December 2020. Of them, 26 detected vacuolated Kupffer cells. Six (23.1%, 6/26) were diagnosed as NP-C, comparing to none of the 142 neonatal cholestatic infants without vacuolated Kupffer cells ( = 33.983, < 0.001). The ratio of positive diagnosis of NP-C was 31.6% (6/19) in neonatal cholestatic infants with both vacuolated Kupffer cells and splenomegaly. Therefore, we conclude that the presence of vacuolated Kupffer cells can raise a high clinical suspicion of NP-C in neonatal cholestatic infants, especially in those with splenomegaly.
在新生儿胆汁淤积症中，尼曼-匹克病C型（NP-C）的早期诊断仍然具有挑战性，因为脾肿大缺乏特异性，而氧化甾醇谱分析研究的特异性也相对较低。本研究探索了一种用于识别高度怀疑患有新生儿胆汁淤积症NP-C的婴儿的方法。我们回顾了2015年1月至2020年12月期间9例经基因诊断为NP-C的新生儿胆汁淤积症婴儿的临床资料。其中7例在35至112日龄时接受了肝活检。仅在2例（28.6%，2/7）3个月龄以上获取的肝组织中检测到泡沫细胞。然而，在所有7例肝组织中均检测到空泡化的库普弗细胞。我们通过对168例在2018年1月至2020年12月期间接受基因检测和肝活检的新生儿胆汁淤积症婴儿进行研究，探讨了其意义。其中，26例检测到空泡化的库普弗细胞。6例（23.1%，6/26）被诊断为NP-C，而142例未检测到空泡化库普弗细胞的新生儿胆汁淤积症婴儿均未诊断为NP-C（χ² = 33.983，P < 0.001）。在同时有空泡化库普弗细胞和脾肿大的新生儿胆汁淤积症婴儿中，NP-C的阳性诊断率为31.6%（6/19）。因此，我们得出结论，空泡化库普弗细胞的存在可高度提示新生儿胆汁淤积症婴儿患有NP-C，尤其是那些伴有脾肿大的婴儿。
