{"title":"儿童多囊肾发育不良的临床形态表型和基因型","authors":"E. Andreeva, N. Savenkova","doi":"10.21508/1027-4065-2024-69-2-19-25","DOIUrl":null,"url":null,"abstract":"At this review of literature presents data on the clinico-morphological phenotype and genotype of multicystic kidney dysplasia: unilateral (ORPHA:97363) and bilateral (ORPHA:97364). The published results of molecular genetic studies, which identified mutations of the genes PAX2, HNF1b, LHX1, CDC5L, USF2, UPK3A, NPHP3, TP63, SALL1, SOX9, CHD7, TFAP2A, responsible for the development of non-functioning unilateral or bilateral, isolate or syndromal multicystic kidney dysplasia, have been discussed. According to the literature, the features of the evolution of multicystic kidney, compensatory hypertrophy and the function of the contralateral kidney are presented.","PeriodicalId":21550,"journal":{"name":"Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)","volume":" 4","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2024-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Clinico-morphological phenotype and genotype of multicystic kidney dysplasia in children\",\"authors\":\"E. Andreeva, N. Savenkova\",\"doi\":\"10.21508/1027-4065-2024-69-2-19-25\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"At this review of literature presents data on the clinico-morphological phenotype and genotype of multicystic kidney dysplasia: unilateral (ORPHA:97363) and bilateral (ORPHA:97364). The published results of molecular genetic studies, which identified mutations of the genes PAX2, HNF1b, LHX1, CDC5L, USF2, UPK3A, NPHP3, TP63, SALL1, SOX9, CHD7, TFAP2A, responsible for the development of non-functioning unilateral or bilateral, isolate or syndromal multicystic kidney dysplasia, have been discussed. According to the literature, the features of the evolution of multicystic kidney, compensatory hypertrophy and the function of the contralateral kidney are presented.\",\"PeriodicalId\":21550,\"journal\":{\"name\":\"Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)\",\"volume\":\" 4\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-05-08\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.21508/1027-4065-2024-69-2-19-25\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.21508/1027-4065-2024-69-2-19-25","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Clinico-morphological phenotype and genotype of multicystic kidney dysplasia in children
At this review of literature presents data on the clinico-morphological phenotype and genotype of multicystic kidney dysplasia: unilateral (ORPHA:97363) and bilateral (ORPHA:97364). The published results of molecular genetic studies, which identified mutations of the genes PAX2, HNF1b, LHX1, CDC5L, USF2, UPK3A, NPHP3, TP63, SALL1, SOX9, CHD7, TFAP2A, responsible for the development of non-functioning unilateral or bilateral, isolate or syndromal multicystic kidney dysplasia, have been discussed. According to the literature, the features of the evolution of multicystic kidney, compensatory hypertrophy and the function of the contralateral kidney are presented.
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