Background Patients heterozygous for COL4A3 or COL4A4 mutations show a wide
spectrum of disease, extending from familial isolated microscopic haematuria, as a result of …

By informing timely targeted treatments, rapid whole-genome sequencing can improve the
outcomes of seriously ill children with genetic diseases, particularly infants in neonatal and …

Abstract Collagen IV nephropathies (COL4Ns) comprise benign familial microscopic
hematuria, thin basement membrane nephropathy (TBMN), X-linked Alport syndrome (AS) …

Results The median renal survival time was 70 years, and the median age at first detection
of proteinuria was 17 years old. There was one patient with hearing loss and one patient …

Background. Heterozygous mutations in the COL4A3/COL4A4 genes are currently thought
to be responsible for familial benign microscopic haematuria and maintenance of normal …

Tunisia is one of the North African countries, geographically situated in a central position at
the crossroad between Africa and Europe. The demographic features of the Tunisian …

Renal diseases characterized by glomerular, tubular, and parenchymal disturbances lead to
metabolic abnormalities known as uremia. Uremia is linked to accumulation of toxins …

Our GWAS of hematuria in the UK Biobank identified 6 loci, some of which overlap with loci
for albuminuria suggesting pleiotropy. Since clinical syndromes are often defined by …

Background Alport syndrome is an inherited renal disorder characterized by glomerular
basement membrane lesions with hematuria, proteinuria and frequent hearing defects and …

Autosomal dominant Alport syndrome (ADAS) accounts for 5% of all cases of Alport
syndrome (AS), a primary basement membrane disorder arising from mutations in genes …