Alport Syndrome Family Screening and Management: Experience of a Tertiary Center.
Most at-risk relatives of Alport syndrome patients carried the familial genetic variant.
Alport Syndrome Family Screening and Management: Experience of a Tertiary Center.
Alport syndrome (alport syndrome) is one of the most common causes of inherited chronic kidney disease.
The aim of this study was to describe the implementation and results of cascade screening among at-risk relatives of a cohort of patients with alport syndrome followed at our unit.
This is a prospective, single-center study conducted at Nephrology Department, Health Local Unit Gaia/Espinho.
A total of 93 at-risk relatives underwent evaluation through biochemical testing (kidney function and urinalysis abnormalities) and were offered molecular screening for the familial COL4 variant following genetic counseling.
OBSERVATIONS: Seventy-six (81.7%) at-risk relatives underwent molecular evaluation.
9 (9.6%) individuals declined to proceed with screening and 8 (8.6%) experienced delay in obtaining their results.
Cascade screening of relatives of patients with alport syndrome is an effective strategy for identifying individuals with ongoing kidney disease or those at risk of future renal impairment.
This approach enables the early initiation of nephroprotective measures and ensures timely access to appropriate genetic counseling.