The Challenge of Detect and Characterize the Early Risk in Living Kidney Donor Transplant Col4a Nephropathy?

Summary: Kidney transplantation confers the best prognosis for patients with end-stage renal disease (ESRD) and living kidney donation confers superior outcomes to the deceased kidney donation. Safety in living kidney donation has been widely accepted, but new recent evidence has revealed a relative ESRD risk for donors. Why this ESRD occurs in living kidney donors (LKD) is unclear. All studies to date have not shown any evidence about a grow incidence of any classic risk factor (hypertension, diabetes, albuminuria...) for ESRD in the well selected donors, however, we could say that some donors groups present with higher risk, specially related donors.

Methods: Two families of our cohort, two of them with a not expected and dramatically early LKD kidney damage after renal transplantation. DNA sequencing studies have been performed.

Results: A variant of COL4 to date not pathological considered, was detected, but any mutation , is clearly identified; this COL4 nephropathy would have an important pathogenicity burden, in terms of refractory nephrotic syndrome (NS), ESRD or proteinuria.

Conclusion: Clinical phenotype in COL4AN can be diverse and confused and are a challenge for the clinicians as occurs in the LKD candidate study. The determinants of phenotype expression remains unknown. COL4N is a relative common disorder and will remain to clarify if it has a role in the LKD glomerulonephritis related ESRD. More data are needed.

Abbreviations: AS: Alport Syndrome; CKD: Chronic Kidney Disease; COL4A: Collagen 4A; ESRD: End Stage Renal Disease; FSGS: Focal and Segmental Glomerulosclerosis; LKD: Living Kidney Donor; NS: Nephrotic Syndrome; NGS: Next Generation Sequence; SNP: Single Nucleotide Polymorphism; TBMN: Thin Basement Membrane Nephropathy; GWAS: Genome Wide Association Study