Samina Masud Santa, Tahmina Akter Diba, Abdullah Al Mamun, Afroza Begum, Syed Saimul Haque
{"title":"Pierson综合征表现为Alport综合征:1例报告","authors":"Samina Masud Santa, Tahmina Akter Diba, Abdullah Al Mamun, Afroza Begum, Syed Saimul Haque","doi":"10.3329/bsmmuj.v16i3.68478","DOIUrl":null,"url":null,"abstract":"We report a 3 year 10 month old girl with Pierson syndrome. Kidney biopsy showed features suggestive of Alport syndrome. Genetic study report showed LAMB2 mutation which are considered to (Nephrotic syndrome, type 5 with or without ocular abnormalities and Pierson syndrome), TRIM8 mutation which are considered to (FSGS and neurodevelopmental syndrome). The patient is getting supportive therapy. Bangabandhu Sheikh Mujib Medical University Journal 2023;16(3): 178-181","PeriodicalId":8681,"journal":{"name":"Bangabandhu Sheikh Mujib Medical University Journal","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2023-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Pierson syndrome presenting as Alport syndrome: A case report\",\"authors\":\"Samina Masud Santa, Tahmina Akter Diba, Abdullah Al Mamun, Afroza Begum, Syed Saimul Haque\",\"doi\":\"10.3329/bsmmuj.v16i3.68478\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"We report a 3 year 10 month old girl with Pierson syndrome. Kidney biopsy showed features suggestive of Alport syndrome. Genetic study report showed LAMB2 mutation which are considered to (Nephrotic syndrome, type 5 with or without ocular abnormalities and Pierson syndrome), TRIM8 mutation which are considered to (FSGS and neurodevelopmental syndrome). The patient is getting supportive therapy. Bangabandhu Sheikh Mujib Medical University Journal 2023;16(3): 178-181\",\"PeriodicalId\":8681,\"journal\":{\"name\":\"Bangabandhu Sheikh Mujib Medical University Journal\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-09-27\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Bangabandhu Sheikh Mujib Medical University Journal\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.3329/bsmmuj.v16i3.68478\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Bangabandhu Sheikh Mujib Medical University Journal","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.3329/bsmmuj.v16i3.68478","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Pierson syndrome presenting as Alport syndrome: A case report
We report a 3 year 10 month old girl with Pierson syndrome. Kidney biopsy showed features suggestive of Alport syndrome. Genetic study report showed LAMB2 mutation which are considered to (Nephrotic syndrome, type 5 with or without ocular abnormalities and Pierson syndrome), TRIM8 mutation which are considered to (FSGS and neurodevelopmental syndrome). The patient is getting supportive therapy. Bangabandhu Sheikh Mujib Medical University Journal 2023;16(3): 178-181
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