Year: 2025
Type: article
Study design: Case Report
Abstract: The paper reports the case of a 4-year-old girl with recurrent episodes of macrohematuria. Her family history revealed renal and ocular anomalies. Clinical and genetic analyses confirmed X-linked compound heterozygosity for Alport syndrome, with two COL4A5 gene mutations inherited from both parents. Additionally, a CNGB3 gene polymorphism was detected, linked to the mother’s visual impairments. This case is notable for its dual genetic inheritance and the differing phenotypic expression compared to the mother.
Authors: Ezio Sarno, Irene Alberici, Claudio La Scola, Roberto Pillon, Andrea Pasini
Language: English
Subfield: Nephrology
Field: Medicine
Domain: Health Sciences
Open Access status: bronze
OpenAlex ID: W4408872064