Alport syndrome is inherited as an X-linked (XL), autosomal recessive (AR), or autosomal
dominant (AD) disease, where pathogenic COL4A3–COL4A5 variants affect the basement …

Introduction Women and girls with X-linked Alport syndrome have a risk of disease
progression that is difficult to predict. This systematic review examined whether proteinuria …

Hundreds of different genetic causes of chronic kidney disease are now recognized, and
while individually rare, taken together they are significant contributors to both adult and …

Rationale & Objective Alport syndrome (AS) is the most common genetic glomerular disease
caused by mutations that affect type IV collagen. However, the clinical characteristics and …

Background Microscopic haematuria in children is associated with the risk of progression to
chronic kidney disease. Genetic disease is an important potential aetiology. Genomic …

Introduction The penetrance and phenotypic spectrum of autosomal dominant Alport
Syndrome (ADAS), affecting 1 in 106, remains understudied. Methods Using data from …

Alport syndrome (AS) shows a broad phenotypic spectrum ranging from isolated
microscopic hematuria (MH) to end‐stage kidney disease (ESKD). Monoallelic disease …

Alport syndrome (AS) is a rare genetic disorder categorized by the progressive loss of
kidney function, sensorineural hearing loss and eye abnormalities. It occurs due to …

Alport syndrome (AS) is the most frequent monogenic inherited glomerulopathy and is also
genetically and clinically heterogeneous. It is caused by semi-dominant pathogenic variants …

X-linked Alport syndrome is a genetic kidney disease caused by pathogenic COL4A5
variants, but little is known of the consequences of missense variants affecting the NC1 …