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2例关节挛缩-肾功能不全-胆汁淤积综合征患儿的临床特征及遗传学分析
DOI: 10.3969/j.issn.1001-5256.2022.02.029
利益冲突声明：本研究不存在研究者、伦理委员会成员、受试者监护人以及与公开研究成果有关的利益冲突。
作者贡献声明：姜涛负责研究设计，资料分析和撰写论文；谭艳芳、唐莲、张慧参与数据收集及修改论文；罗海燕、欧阳文献、李双杰负责拟定写作思路，指导撰写论文并最后定稿。
Clinical features and genetic analysis of two children with arthrogryposis, renal insufficiency, and cholestasis syndrome
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Key words:
- Cholestasis, Intrahepatic /
- Arthrogryposis /
- Renal Insufficiency /
- Signs and Symptoms /
- Genetic Testing
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图 1 2例ARC综合征患儿基因图谱
注：a，病例1患儿为VPS33B基因c.1567C＞T和c.1726T＞C复合杂合突变；b，病例2患儿为VPS33B基因c.1030+1G＞A和c.1099G＞A复合杂合突变。
表 1 2例ARC综合征患儿入院后初次肝功能指标检查结果
患儿 TBil (μmol/L) DBil (μmol/L) 总蛋白(g/L) 白蛋白(g/L) ALT (U/L) AST (U/L) 总胆汁酸(μmol/L) GGT (U/L) 病例1 163.7 129.4 55.8 32.6 70.3 86.7 97.3 25.0 病例2 225.8 147.7 46.7 32.3 135.2 134.8 68.3 23.5 正常值 3.4~17 0~6 55~80 35~55 0~40 0~40 0~9.67 0~50 
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表 2 2例ARC综合征患儿基因检测结果
患儿 染色体位置 核苷酸改变 氨基酸改变 状态 来源 文献报道 变异类型 病例1 chr15∶91543734 c.1567C＞T p.R523* 杂合 母亲 有 无义突变 病例1 chr15∶91542955 c.1726T＞C p.C576R 杂合 新发 有 错义突变 病例2 chr15∶91548923 c.1030+1G＞A - 杂合 母亲 无 剪切位点 病例2 chr15∶91548616 c.1099G＞A p.E367K 杂合 父亲 无 错义突变
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