Article
COL4A3 mutation is an independent risk factor for poor prognosis in children with Alport syndrome.
Pediatric nephrology (Berlin, Germany) - 1 Oct 2020
Ozdemir Gulsah, Gulhan Bora, Atayar Emine, Saygılı Seha, Soylemezoglu Oguz, Ozcakar Zeynep Birsin, Eroglu Fehime Kara, Candan Cengiz, Demir Belde Kasap, Soylu Alper, Yüksel Selçuk, Alpay Harika, Agbas Ayse, Duzova Ali, Hayran Mutlu, Ozaltin Fatih, Topaloglu Rezan
Abstract excerpt
BACKGROUND: Alport syndrome (AS) is an inherited glomerular disease caused by mutations in COL4A3, COL4A4, or COL4A5. Associations between clinical manifestations and genotype are not yet well defined. Our study aimed to define clinical and genetic characteristics, establish genotype-phenotype correlations, and determine prognosis of AS in children. METHODS: A total of 87 children with AS from 10 pediatric...
Topics
- Adolescent
- Autoantigens
- Biopsy
- Child
- Child, Preschool
- Collagen Type IV
- DNA Mutational Analysis
- Disease Progression
- Female
- Follow-Up Studies