Clinical phenotype of familial hypertensive nephropathy

Abstract Familial kidney disease is common in Cyprus. Patients with a glomerular phenotype are most likely to have an autosomal dominant variant in collagen type IV alpha 3 chain (COL4A3) or collagen type IV alpha 4 chain (COL4A4) genes but pathogenic variants are not found in the majority of families. We compare the clinical phenotype between two groups of 10 Turkish Cypriot families who lack a pathogenic variant of COL4A3 or COL4A4 but have either the COL4A4 variant p.G545A or p.G999E. Both groups had identical clinical phenotypes with microscopic haematuria detected at least once in 76% of affected family members; urine protein was less than 1 g/day until glomerular filtration rate (GFR)