Few prospective, randomized controlled clinical trials address the diagnosis and
management of patients with Alport syndrome or thin basement membrane nephropathy …

Abstract In 1927, Arthur C. Alport first published his description of a triad of symptoms in a
family with hereditary congenital haemorrhagic nephritis, deafness and ocular changes. A …

Alport syndrome is an inherited disease characterized by hematuria, progressive renal
failure, hearing loss, and ocular abnormalities. Autosomal recessive Alport syndrome is …

Alport syndrome (ATS) results from X-linked, COL4A5 mutations (85%) or from autosomal
recessive homozygous or compound heterozygous COL4A3/A4 mutations (15%) …

Hematuria is a common presenting feature of glomerular disease and is sometimes
associated with kidney failure later in life. Where isolated microscopic hematuria occurs in …

Persistent isolated microscopic hematuria confers a risk for future chronic kidney disease,
which is dependent on disease context, underlying genetics, environment interactions, and …

A girl aged 6 presented with haematuria and her sister (aged 5) presented with haematuria
and proteinuria. Family history showed multiple individuals suffering from end stage renal …

Alport syndrome, an important inherited cause of end-stage renal disease, has long been
considered an untreatable disorder. That view is changing as a result of treatment studies in …

X-linked Alport syndrome (XLAS) arises from mutations in the COL4A5 gene encoding the
α5-chain of type IV collagen and is associated with hematuria, ocular abnormalities and high …

To the Editor: Familial microscopic hematuria has been of interest to us for over 25 years. In
2007, we published a study (which was the largest at that time) on 82 patients with …