Wang Mei-Juan, Zhong Xue-Mei, Ma Xin, Ning Hui-Juan, Zhu Dan, Gong You-Zhe, Jin Meng
Department of Gastroenterology, Children's Hospital, Capital Institute of Pediatrics, Beijing 100020, China.
Zhongguo Dang Dai Er Ke Za Zhi. 2021 Jan;23(1):91-97. doi: 10.7499/j.issn.1008-8830.2009079.
To explore the clinical characteristics and genetic findings of patients with infantile intrahepatic cholestasis.
The clinical data were collected in children who were admitted to the Department of Gastroenterology in Children's Hospital, Capital Institute of Pediatrics from June 2017 to June 2019 and were suspected of inherited metabolic diseases. Next generation sequencing based on target gene panel was used for gene analysis in these children. Sanger sequencing technology was used to verify the genes of the members in this family.
Forty patients were enrolled. Pathogenic gene variants were identified in 13 patients (32%), including gene variation in 3 patients who were diagnosed with citrin deficiency, gene variation in 3 patients who were diagnosed with Alagille syndrome, gene variation in 3 patients who were diagnosed with progressive familial intrahepatic cholestasis type 2, gene variation in 1 patient who was diagnosed with congenital bile acid synthesis defect type 1, gene variation in 1 patient who was diagnosed with congenital bile acid synthesis defect type 1, gene variation in 1 patient who was diagnosed with Niemann-Pick disease, and gene variation in 1 patient who was diagnosed with cystic fibrosis.
The etiology of infantile intrahepatic cholestasis is complex. Next generation sequencing is helpful in the diagnosis of infantile intrahepatic cholestasis.
探讨婴儿肝内胆汁淤积症患者的临床特征及基因检测结果。
收集2017年6月至2019年6月首都儿科研究所附属儿童医院消化内科收治的疑似遗传性代谢疾病患儿的临床资料。对这些患儿采用基于目标基因panel的二代测序进行基因分析。采用桑格测序技术对该家系成员的基因进行验证。
共纳入40例患者。13例（32%）患者检测到致病基因变异，其中3例诊断为瓜氨酸血症Ⅱ型，3例诊断为阿拉吉尔综合征，3例诊断为进行性家族性肝内胆汁淤积症2型，1例诊断为先天性胆汁酸合成缺陷1型，1例诊断为尼曼-匹克病，1例诊断为囊性纤维化。
婴儿肝内胆汁淤积症病因复杂。二代测序有助于婴儿肝内胆汁淤积症的诊断。
