Mona Hamdy, Iman Shaheen, Hadi Ramadan, Fatma Abdel Wahab Abdel Maksoud, Yasmin Mohamed Ramadan
{"title":"转化生长因子-β1:其单核苷酸遗传变异与镰状细胞肾病的关系","authors":"Mona Hamdy, Iman Shaheen, Hadi Ramadan, Fatma Abdel Wahab Abdel Maksoud, Yasmin Mohamed Ramadan","doi":"10.1186/s43054-024-00283-1","DOIUrl":null,"url":null,"abstract":"Sickle cell nephropathy is a complication of sickle cell disease characterized by functional abnormalities of the kidney and glomeruli. Our study aimed to investigate the single-nucleotide genetic variants in TGF-β-1-related genes as an early predictor of sickle cell nephropathy (SCN) risk. Two hundred participants, 100 patients with SCD, and 100 age and sex-matched control. The study included full history taking, clinical examination, and laboratory evaluation. Renal function tests (serum urea and creatinine, microalbuminuria, albumin/ creatinine ratio, and e-GFR). Genotyping for TGF-β1 genetic variants rs1800469 and rs1800471. Twenty-one percent of patients had glomerular hyperfiltration, while 31% had reduced e-GFR. Microalbuminuria was present in 14%, and none had macroalbuminuria or edema. TGF-β1 genotyping revealed a statistically significant difference in the rs 1800471 C allele, which was more common in the control group (p 0.028). No significant correlation between the result of TGF‐ β genotyping and the albumin-to-creatinine ratio, creatinine, and e-GFR. TGF-β1 rs1800469 and rs1800471 genetic variants were not associated with the risk of sickle nephropathy in children with sickle cell disease.","PeriodicalId":43064,"journal":{"name":"Egyptian Pediatric Association Gazette","volume":null,"pages":null},"PeriodicalIF":0.5000,"publicationDate":"2024-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Transforming growth factor-β1: relation between its single-nucleotide genetic variants and sickle cell nephropathy\",\"authors\":\"Mona Hamdy, Iman Shaheen, Hadi Ramadan, Fatma Abdel Wahab Abdel Maksoud, Yasmin Mohamed Ramadan\",\"doi\":\"10.1186/s43054-024-00283-1\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Sickle cell nephropathy is a complication of sickle cell disease characterized by functional abnormalities of the kidney and glomeruli. Our study aimed to investigate the single-nucleotide genetic variants in TGF-β-1-related genes as an early predictor of sickle cell nephropathy (SCN) risk. Two hundred participants, 100 patients with SCD, and 100 age and sex-matched control. The study included full history taking, clinical examination, and laboratory evaluation. Renal function tests (serum urea and creatinine, microalbuminuria, albumin/ creatinine ratio, and e-GFR). Genotyping for TGF-β1 genetic variants rs1800469 and rs1800471. Twenty-one percent of patients had glomerular hyperfiltration, while 31% had reduced e-GFR. Microalbuminuria was present in 14%, and none had macroalbuminuria or edema. TGF-β1 genotyping revealed a statistically significant difference in the rs 1800471 C allele, which was more common in the control group (p 0.028). No significant correlation between the result of TGF‐ β genotyping and the albumin-to-creatinine ratio, creatinine, and e-GFR. TGF-β1 rs1800469 and rs1800471 genetic variants were not associated with the risk of sickle nephropathy in children with sickle cell disease.\",\"PeriodicalId\":43064,\"journal\":{\"name\":\"Egyptian Pediatric Association Gazette\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.5000,\"publicationDate\":\"2024-06-19\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Egyptian Pediatric Association Gazette\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1186/s43054-024-00283-1\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"PEDIATRICS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Egyptian Pediatric Association Gazette","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1186/s43054-024-00283-1","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"PEDIATRICS","Score":null,"Total":0}
Transforming growth factor-β1: relation between its single-nucleotide genetic variants and sickle cell nephropathy
Sickle cell nephropathy is a complication of sickle cell disease characterized by functional abnormalities of the kidney and glomeruli. Our study aimed to investigate the single-nucleotide genetic variants in TGF-β-1-related genes as an early predictor of sickle cell nephropathy (SCN) risk. Two hundred participants, 100 patients with SCD, and 100 age and sex-matched control. The study included full history taking, clinical examination, and laboratory evaluation. Renal function tests (serum urea and creatinine, microalbuminuria, albumin/ creatinine ratio, and e-GFR). Genotyping for TGF-β1 genetic variants rs1800469 and rs1800471. Twenty-one percent of patients had glomerular hyperfiltration, while 31% had reduced e-GFR. Microalbuminuria was present in 14%, and none had macroalbuminuria or edema. TGF-β1 genotyping revealed a statistically significant difference in the rs 1800471 C allele, which was more common in the control group (p 0.028). No significant correlation between the result of TGF‐ β genotyping and the albumin-to-creatinine ratio, creatinine, and e-GFR. TGF-β1 rs1800469 and rs1800471 genetic variants were not associated with the risk of sickle nephropathy in children with sickle cell disease.
期刊介绍:
The Gazette is the official journal of the Egyptian Pediatric Association. The main purpose of the Gazette is to provide a place for the publication of high-quality papers documenting recent advances and new developments in both pediatrics and pediatric surgery in clinical and experimental settings. An equally important purpose of the Gazette is to publish local and regional issues related to children and child care. The Gazette welcomes original papers, review articles, case reports and short communications as well as short technical reports. Papers submitted to the Gazette are peer-reviewed by a large review board. The Gazette also offers CME quizzes, credits for which can be claimed from either the EPA website or the EPA headquarters. Fields of interest: all aspects of pediatrics, pediatric surgery, child health and child care. The Gazette complies with the Uniform Requirements for Manuscripts submitted to biomedical journals as recommended by the International Committee of Medical Journal Editors (ICMJE).