Publications by authors named "Lara Besada-Cerecedo"
Article Synopsis
- Alport syndrome (AS) is a genetic disorder with varying severity, categorized into X-linked, autosomal recessive, and autosomal dominant forms, each showing different clinical traits and progression.
- This study analyzed 317 patients with autosomal dominant AS (ADAS) carrying mutations in COL4A3/4, revealing that most patients showed early symptoms like urinalysis changes before age 40, with adverse kidney events common between ages 30-70.
- Findings indicate significant sex differences in the onset of end-stage kidney disease (ESKD), with males experiencing deterioration earlier than females, underscoring the need for consistent monitoring of patients with these mutations.
Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common genetic disorders worldwide. In recent decades, the field has undergone a revolution, starting with the identification of causal ADPKD genes, including , and the recently identified . In addition, advances defining the genetic mechanisms, protein localization and function, and the identification of numerous pathways involved in the disease process, have contributed to a better understanding of this illness.
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