Benign familial hematuria (BFH: MIM141200) is an autosomal-dominant disease accounting
for one-fifth of all hematuria of unknown cause in children. Previous observations suggest …

Objective To describe the clinicopathological features, complement abnormalities, triggers,
treatment, and outcomes of C3 glomerulopathy. Patients and Methods A total of 114 patients …

Sequence and copy number variations in the human CFHR–Factor H gene cluster
comprising the complement genes CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, and Factor H …

Background Hereditary microscopic haematuria often segregates with mutations of COL4A3,
COL4A4 or COL4A5 but in half of families a gene is not identified. We investigated a Cypriot …

The diagnosis of thin basement membrane nephropathy (TBMN) usually is made on the
basis of the clinical features or the glomerular membrane ultrastructural appearance. Only …

Results All patients presented with hematuria, associated with chronic renal failure and
proteinuria in five patients, three of whom had nephrotic syndrome. Five patients had …

Background Familial hematuria (FH) is associated with at least two pathological entities: thin
basement membrane nephropathy (TBMN), caused by heterozygous COL4A3/COL4A4 …

The spectrum of immune-mediated glomerular diseases is wide, ranging from rare diseases
with well-recognized genetic origins to more common and multifactorial diseases. Immune …

A tight interplay of genetic predisposition and environmental factors define the onset and the
rate of progression of chronic renal disease. We are seeing a rapid expansion of information …

C3 glomerulopathy refers to a disease process in which abnormal control of complement
activation, degradation or deposition results in predominant C3 fragment deposition within …