Ematuria e non solo... A volte è una questione di famiglia: la sindrome di Alport
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
- Andrea Pasini (ORCID: https://orcid.org/0000-0001-8479-8379)
- Roberto Pillon (ORCID: https://orcid.org/0000-0003-1574-3301)
- Irene Alberici (ORCID: https://orcid.org/0000-0002-3428-5257)
- Emilia Sarno
- Claudio La Scola (ORCID: https://orcid.org/0000-0002-2644-7447)
Institutions
- Azienda USL di Bologna (IT)
- Istituti di Ricovero e Cura a Carattere Scientifico (IT)
- University of Bologna (IT)
Publication Details
- Journal
- Medico e Bambino pagine elettroniche
- Published
- 2025-02-28
- DOI
- https://doi.org/10.53126/mebxxviiim72
- Primary Topic
- Genetic Syndromes and Imprinting
- Type
- article
- Field-Weighted Citation Impact
- 0.00