Article
Clinico-pathological correlations in 127 patients in 11 large pedigrees, segregating one of three heterozygous mutations in the COL4A3/ COL4A4 genes associated with familial haematuria and significant late progression to proteinuria and chronic kidney disease from focal segmental glomerulosclerosis.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 1 Sept 2009
Pierides Alkis, Voskarides Konstantinos, Athanasiou Yiannis, Ioannou Kyriacos, Damianou Loukas, Arsali Maria, Zavros Michalis, Pierides Michael, Vargemezis Vasilios, Patsias Charalambos, Zouvani Ioanna, Elia Avraam, Kyriacou Kyriacos, Deltas Constantinos
Abstract excerpt
BACKGROUND: Heterozygous mutations in the COL4A3/ COL4A4 genes are currently thought to be responsible for familial benign microscopic haematuria and maintenance of normal long-term kidney function. METHODS: We report on 11 large Cypriot pedigrees with three such mutations. A total of 236 at-risk family members were genetically studied, and 127 (53.8%) carried a heterozygous mutation. Clinico-pathological...
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