Alport syndrome (AS) is a progressive hereditary renal disease that is characterized by
sensorineural hearing loss and ocular abnormalities. It is divided into three modes of …

Defects in type IV collagen, a collagenous protein involved in the formation of basement
membranes, have been implicated in hereditary Alport's syndrome and acquired …

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

Alport syndrome inevitably leads to end-stage renal disease and there are no therapies
known to improve outcome. Here we determined whether angiotensin-converting enzyme …

Recent expert guidelines recommend genetic testing for the diagnosis of Alport syndrome.
Here, we describe current best practice and likely future developments. In individuals with …

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 progressive renal failure, hearing
loss, and ocular abnormalities. Mutations in the COL4A5 (X-linked), or COL4A3 and …

Mutations in the COL4A5 gene cause X-linked Alport syndrome (XLAS). Understanding the
correlation between clinical manifestations and the underlying mutations adds prognostic …

Early kidney failure in the hereditary type IV collagen disease, Alport syndrome, can be
delayed by renin-angiotensin inhibitors. However, whether all patients and all different …

Hereditary familial or congenital nephritis is a definite entity.... Deafness is a marked feature
in nearly all these cases... The male members of a family tend to develop nephritis and …