Alport Patient Shows Improvement After Receiving Kidney from Father Later Found to have ADAS, Study Says

A patient with Alport syndrome (AS) showed clinical improvement years after receiving a transplant of a kidney from his father, even though subsequent genetic analysis found that the patient has autosomal recessive AS (ARAS) while his father has the autosomal dominant (ADAS) form of the condition. The…

Certain Patients with Alport Syndrome at Risk for Hypertensive Disease, Study Finds

Patients with X-linked or autosomal recessive Alport syndrome are at risk for developing hypertensive disease, which may also worsen their disease symptoms, a study shows. The study, “Increased microvascular disease in X-linked and autosomal recessive Alport syndrome: a case control cross sectional observational study,” was…

Report Identifies New COL4A4 Variant, Highlights Next Generation Sequencing

A new variant (mutation) of the COL4A4 gene was identified as the cause of autosomal recessive Alport syndrome (ARAS) in a young Chinese woman, according to a case report. The women also inherited a mutation in…

Thickness of Eye’s Retina May Aid in Diagnosing Men with More Advanced X-linked Alport Syndrome, Study Says

Retinal thickness may be used to distinguish men with X-linked Alport syndrome from those with a similar but much more benign kidney disease known as thin basement membrane nephropathy, a recent study reports, although differences were not significant enough in women to work as…

Researchers Identify Two Gene Mutations That May Be Linked to Mild Form of Alport Syndrome

Researchers have identified two mutations of the COL4A3 gene that appear to be linked to the development of a mild form of autosomal recessive Alport syndrome, or ARAS. The study, “A case of mild phenotype Alport syndrome caused by COL4A3 mutations,” was published in the journal CEN Case Reports.