The familial hematuric diseases are a genetically heterogeneous group of monogenic
conditions, caused by mutations in one of several genes. The major genes involved are the …

Microscopic haematuria is the presenting symptom of several conditions, either heritable or
acquired. A well-recognized familial condition is Alport syndrome, either of X-linked or …

Genome-wide association studies (GWAS) have identified hundreds of loci associated with
kidney-related traits such as glomerular filtration rate, albuminuria, hypertension, electrolyte …

Chronic kidney disease is common with up to 5% of the adult population reported to have an
estimated glomerular filtration rate of< 60 ml/min/1.73 m2. A large number of pathogenic …

The intrinsic similarity shared between the members of the complement factor H family,
which comprises complement factor H and five complement factor H–related (CFHR) genes …

Familial microscopic hematuria (MH) of glomerular origin represents a heterogeneous group
of monogenic conditions involving several genes, some of which remain unknown. Recent …

A Mendelian inheritance underlies a nonnegligible proportion of hereditary kidney diseases,
suggesting that the encoded proteins are essential for maintenance of the renal function …

Introduction: Abnormal control of the complement alternative pathway (CAP)(factor H, factor I
and membrane cofactor protein (MCP) deficiencies) is a well established risk factor for the …

C3 glomerulopathy is a recent disease classification comprising several rare types of
glomerulonephritis, including dense deposit disease (DDD) and C3 glomerulonephritis …

We report the first case of familial C3 glomerulonephritis (C3GN) associated with mutations
in the gene for complement factor B (CFB). A 12-year-old girl was diagnosed with biopsy …