Alport syndrome is a genetically and phenotypically heterogeneous disorder of glomerular,
cochlear, and ocular basement membranes resulting from mutations in the collagen IV …

The glomerular basement membrane (GBM) is an important component of the kidney's
glomerular filtration barrier. Like all basement membranes, the GBM contains type IV …

Background Alport syndrome is a clinically heterogeneous, progressive nephropathy
caused by mutations in collagen IV genes, namely COL4A3 and COL4A4 on chromosome 2 …

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

In 1927 Arthur Cecil Alport, a South African physician, described a British family with an
inherited form of kidney disease that affected males more severely than females and was …

Mutations in the NPHS 2 gene encoding podocin are implicated in an autosomal‐recessive
form of nonsyndromic steroid‐resistant nephrotic syndrome in both pediatric and adult …

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

Alport syndrome (AS) is a genetic disease characterized by haematuric glomerulopathy
variably associated with hearing loss and anterior lenticonus. It is caused by mutations in the …

Genetic diagnosis of steroid-resistant nephrotic syndrome (SRNS) using Sanger sequencing
is complicated by the high genetic heterogeneity and phenotypic variability of this disease …

Familial glomerular hematuria (s) comprise a genetically heterogeneous group of conditions
which include Alport Syndrome (AS) and thin basement membrane nephropathy (TBMN) …