{"title":"【常染色体隐性遗传性多囊肾病发病机制的研究进展】。","authors":"H X Li, R C Che, A H Zhang, G X Ding","doi":"10.3760/cma.j.cn112140-20230209-00086","DOIUrl":null,"url":null,"abstract":"常染色体隐性遗传多囊肾病（ARPKD）是累及肾脏和肝脏的罕见纤毛病之一，也是儿童慢性肾脏病（CKD）的常见原因之一。尚缺乏针对ARPKD的特异性治疗方法，故了解其机制至关重要。信号通路异常激活、调节因子和细胞因子的异常分泌、细胞外基质重塑、细胞极性和机械性质的改变等相关机制逐渐被认识。尽管ARPKD的遗传基础是明确的，但对ARPKD的变异基因及其表达蛋白的确切功能和囊肿形成的关键分子机制的认识仍不足，相关信号通路的具体机制也不完全清楚。为了加强对ARPKD的认识，寻找临床上特异的治疗药物，对该病的致病机制进行综述。.","PeriodicalId":23998,"journal":{"name":"Zhonghua er ke za zhi = Chinese journal of pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2023-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"[Research progress on the pathogenesis autosomal recessive polycystic kidney disease].\",\"authors\":\"H X Li, R C Che, A H Zhang, G X Ding\",\"doi\":\"10.3760/cma.j.cn112140-20230209-00086\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"常染色体隐性遗传多囊肾病（ARPKD）是累及肾脏和肝脏的罕见纤毛病之一，也是儿童慢性肾脏病（CKD）的常见原因之一。尚缺乏针对ARPKD的特异性治疗方法，故了解其机制至关重要。信号通路异常激活、调节因子和细胞因子的异常分泌、细胞外基质重塑、细胞极性和机械性质的改变等相关机制逐渐被认识。尽管ARPKD的遗传基础是明确的，但对ARPKD的变异基因及其表达蛋白的确切功能和囊肿形成的关键分子机制的认识仍不足，相关信号通路的具体机制也不完全清楚。为了加强对ARPKD的认识，寻找临床上特异的治疗药物，对该病的致病机制进行综述。.\",\"PeriodicalId\":23998,\"journal\":{\"name\":\"Zhonghua er ke za zhi = Chinese journal of pediatrics\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-09-02\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Zhonghua er ke za zhi = Chinese journal of pediatrics\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.3760/cma.j.cn112140-20230209-00086\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Zhonghua er ke za zhi = Chinese journal of pediatrics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.3760/cma.j.cn112140-20230209-00086","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
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