Alport syndrome (ATS) and benign familial hematuria (BFH) are type IV collagen inherited disorders. Mutations in COL4A5 are generally believed to cause X-linked ATS, whereas mutations in COL4A3 and COL4A4 genes can be associated with the autosomal-recessive and -dominant type of ATS or BFH. In view of the wide spectrum of phenotypes, an exact diagnosis is sometimes difficult to achieve. This study involved screening each exon with boundary intronic sequences of COL4A3, COL4A4, and COL4A5 genes by optimized polymerase chain reaction-single-stranded conformational polymorphism analysis in 17 families with ATS and in 40 families diagnosed as having BFH. Twelve different mutations were found in the COL4A5 gene in ATS patients, comprising nine missense mutations, a splice site mutation, a mutation causing frameshift, and a nonsense mutation. One of the missense mutations (p.G624D) was present not only in one family with ATS but also in five families with suspected BFH. Three heterozygous mutations in the COL4A3 gene (two missense and one frameshift) and four heterozygous mutations in COL4A4 (two splice site, one in-frame deletion, and one missense) were identified in patients with BFH. Sixteen mutations are to the best of our knowledge new and private.

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The actuarial renal survival rate in elderly patients with ANCA-associated GN was 92% at 1 year and 76% at 3 years. Older age, arterial hypertension, proteinuria and serum creatinine > or =400 micro mol/l related to ESRD.

Mildly elevated serum creatinine concentration was proposed to be a marker for increased risk of cardiovascular disease mortality. The aim of our prospective study was to evaluate a possible association between serum creatinine concentration and extent of coronary atherosclerosis together with conventional risk factors for atherosclerosis. Serum creatinine concentration was measured in 40 male patients without overt renal or ischemic renal disease (mean age 53 +/- 7 years) with stable or unstable angina undergoing routine coronary arteriography. The extent of coronary atherosclerosis was assessed by Gensini score. In univariate linear regression analysis Gensini score significantly correlated with serum concentrations of apolipoprotein AII (r=-0.3242, P<0.05) and creatinine (r=+0.3194, P<0.05), but not with serum concentrations of lipids (total, low- and high-density lipoprotein cholesterol, triglycerides), other apolipoproteins (apo B, apo AI), lipoprotein(a), autoantibodies to oxidatively modified low-density lipoprotein or age, weight and status of smoking, diabetes or hypertension. Multivariate linear regression analysis revealed that elevated serum creatinine was associated with the extent of coronary atherosclerosis independently of conventional risk factors for atherosclerosis. Mildly elevated serum creatinine was probably the marker of generalised vascular disease denoting early nephrovasculopathy in correlation with established atherosclerotic risk factors.